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FOR MORE INFORMATION, COMMENTS OR QUESTIONS, PLEASE CONTACT:

New England Regional Genetics Group, Inc.Mary-Frances Garber M.S., C.G.CExecutive Assistant P.O. Box 920288Needham, MA 02492-0288Phone: 781-444-0126 Fax: 781-444-0127Email: [email protected] site: www.nergg.org

This resource directory is a supplement to and not a substitute for medical advice.Patients with specific questions about genetic counseling or testing should contacttheir healthcare provider or a genetics clinic.

i.

NERGG, Inc.Continuing the mission of the NEW ENGLAND REGIONAL GENETICS GROUP

Thomas Brewster, MD Mary-Frances Garber M.S., C.G.CProject Director NERGG, Inc, Executive Assistant Regional Genetics Services and NBS Collaborative P.O. Box 920288

Needham, MA 02492-0288Phone: 781-444-0126

NEW ENGLAND REGIONAL GENETICS AND NEWBORN SCREENING COLLABORATIVEHRSA GRANT # 1U22MC03959

09/01/2004-05/31/2007Thomas Brewster, MD

Project Director

Dear Reader:

I am pleased to present the New England Regional Genetics Group, Inc.’s latest endeavor, Genetics Resources:A Regional Directory.

Advances in genetics hold the promise of great benefits to the health of New England residents. Yet there is agrowing need for enhanced genetics knowledge among physicians, other health care providers, and the generalpublic. To help meet this need, the Department of Public Health in Connecticut developed a geneticsresources directory, and the health departments within our region supplemented it with their information. By joining forces, this wealth of information was created for accessing local, regional, and national geneticsresources. This directory was developed to help New England residents and their medical caregivers accessinformation about the significant role that genes play in human health and disease, and locate services such asgenetic testing, treatment, and follow-up.

The Directory begins with an overview of basic genetics and provides listings for national genetics organiza-tions. It also includes support groups for various conditions and lists specialized resources and supports foreach condition whenever possible.

Each state has a listing of its genetic services, including clinical, public health and laboratory.

We hope you find this Directory a useful tool in your search for genetics information. We welcome yourfeedback on its utilization and your suggestions regarding future public education efforts in genetics.

Sincerely,

Thomas Brewster, MD

ii.

ACKNOWLEDGEMENTS

Original Draft Prepared by:Leslie Ciarleglio, M.S., C.G.C.,NERGG, Inc.

Regional Draft Prepared by:Meagan Krasner, M.S., C.G.C.,NERGG, Inc.

Edited by: Lisa Tuttle, M.S., C.G.C.,NERGG, Inc.

Carol E. Bower, Lead PlanningAnalyst, CT D.P.H.

Layout and Design by: Jon Krasner, M.F.A., JonKrasner Design, co.

Funding for this Directorywas provided by the U.S.Department of Health andHuman Services, HealthResources and ServicesAdministration.

Contributors:

Connecticut Department of Public Health

Genetics Planning Team:

Beverly Burke, M.S.W., Lead Planner

Joan Foland, M.H.S.,M.Phil., Epidemiologist

Meg A. Hooper, M.P.A., Project Director

Fay Larson,R.N.,M.S.,Genetic Newborn Screening Program

Lloyd Mueller, Ph.D., Supervising Epidemiologist

Carol Stone, Ph.D., M.S., M.A.S., Epidemiologist

Maine Department of Public Health

Eleanor Mulcahy,R.N.C.,Director of the Genetics Program

Massachusetts Department of Public Health

Connie Carroll, R.N., M.P.H., Interim Director of Care

Coordination Division for Perinatal, Early Childhood

and Special Health Needs

New Hampshire Department of Public

Health

Marcia Lavochkin, R.N., B.S.N., Program Coordinator,

Newborn Screening Program

Rhode Island Department of Public Health

Ellen Amore, M.S., Manager, Newborn Screening

Programs

Barbara McNeilly, R.N., M.S., Community Health Nurse

Kristi Zonno, M.S, C.G.C., Newborn Screening Training

and Quality Improvement Coordinator

Vermont Department of Public Health

Cindy Ingham, R.N., Newborn Screening Program Chief

iii.

Rapid developments in genetics research have ledincreasingly to the integration of genetics into medical practice. The communication of genetic information between medical providers and patients,patients and their medical providers, and geneticservices and the public will require special cautionand counseling because genetics and genetic information affect people in unique ways. Such information can predict events that occur years in the future, or not at all. It may predict the future ofother family members, and has the potential to challenge, and even stigmatize both individuals and families.

Genetics Resources: A Regional Directory, is theproduct of a multi-year genetics planning initiative at the Connecticut Department of Public Health. Itsdevelopment was prompted by concern that a lackof general, current genetics knowledge among thepublic and medical professionals could result inmissed health promotion opportunities. The expansion of the directory to include resources outside Connecticut was undertaken by the NewEngland Public Health Genetics EducationCollaborative of the NERGG, Inc. Updating thisdirectory is an important part of a strategy toincrease genetics literacy for all.

This directory is intended to help the general public,affected families, and the medical community to fur-ther their knowledge of genetics, genetic conditions,services, and supports and to make it easier tolocate and access resources. The information andresources in this Directory extend beyond thoserelated to traditional public health efforts in screen-ing newborns for inherited disorders. Rather theyencompass the impact of genetics across the entirelifespan. Wherever possible, additional sources ofpublished information accompany listings related toa particular diagnosis or genetic condition.

This second draft of Genetics Resources: A RegionalDirectory, will require revision and updating withnew resources as the “genomics revolution”continues to expand, creates new challenges andnecessitates the creation of new resources inresponse to them.

As planning and preparation continue to address theimpact of genetic developments on public health inNew England, the need for sharing timely, accurate and useful information will grow. Publichealth departments will continue to play a criticalrole in addressing these challenges.

PREFACE

*Preface originally prepared by the CT Department of Public Health, 2004

iv.

Preface

Section I: Genetics Throughout the Lifespan 1-4

Section II: Umbrella Organizations and References 5-12

Section III: Support Organizations and Resources 13-66(alphabetically by condition)

Section IV: Common Genetics Terms 67-78

Section V: Genetics Services: Connecticut 79-84

Section VI: Genetics Services: Maine 85-88

Section VII: Genetics Services: Massachusetts 89-94

Section VIII: Genetics Services: New Hampshire 95-96

Section IX: Genetics Services: Rhode Island 97-100

Section X: Genetics Services: Vermont 101-102

TABLE OF CONTENTS

G E N E T I C S T H R O U G H O U T T H E L I F E S P A N

I.

3

Human genetics. Understanding ourselves and our make-

up from the most basic perspective can be overwhelming.

The study of genetics (single genes and their effects), once

considered obscure has now been confounded by

genomics--the study of all the genes in an individual and

how they interact with each other and with the environ-

ment to create the complexity of life. Even today, with

the completion of the Human Genome Project and the

related media exposure, the risk for birth defects or

genetic disease is often viewed as a “one in-a-million”

possibility. Many people believe that genomics is

unrelated to their daily lives. The reality, however, is that

genomic medicine-- using genetic information to diagnose

and treat disease--is here to stay and most people will

benefit from genetic testing and information at some time

in their lives.

Genetics is the study of heredity. It concerns the transfer

of qualities or traits from one generation to the next. The

basic units of heredity are genes. Genes are made of DNA

(deoxyribonucleic acid) and come in pairs, and are

packaged in structures called chromosomes, which

collectively form an organism's genome.

Most cells in an individual contain every gene in its entire

genome. It was originally believed that humans had

approximately 100,000 genes; however, it is now known

that the human genome contains only about 20,000-

25,000 genes. Humans have a total of 46 chromosomes

representing 23 pairs. We get 23 chromosomes from our

mother, via the egg, and 23 chromosomes from our father,

via the sperm. The joining of egg and sperm at conception

results in a fertilized egg with its full complement of

chromosomes. Of the 23 pairs of chromosomes, 22 pairs

are called the autosomes. The 23rd pair consists of the

sex chromosomes. Females have two “X” chromosomes,

and males have one “X” chromosome and one “Y”

chromosome.

Most things about us, including, in part, our health, are

determined by our genes. Our genetic blueprint not only

determines whether or not our children might have a

serious genetic disorder, but may also determine our

chances of developing a chronic disease or our susceptibil-

ity to an infectious disease.

Traditionally, genetic testing and counseling have

centered on prenatal and pediatric genetic diagnoses.

This is changing: genetics is rapidly expanding into other

medical fields, including adult medicine. However, there

are key times throughout the lifespan that genetic issues

are more likely to be encountered.

Historically, pregnant women 35 years of age or older at

the time of expected delivery were the typical prenatal

genetics referral. Now, with the

growing list of prenatal testing

options, all pregnant women

and women planning a preg-

nancy are potential candidates

for genetic counseling,

regardless of their age. Parental

carrier testing is routinely

available for a variety of genetic

diseases that are more common

in specific racial and ethnic

groups. Sperm and egg donors

are often asked to submit to a

variety of genetic tests. When couples are known to be at

risk for a baby with genetic disease, pre-implantation

genetic diagnosis affords the option of testing fertilized

eggs in-vitro prior to transfer to the uterus.

Each year, millions of newborns receive newborn

screening for various genetic, metabolic, and infectious

disorders. The goal of State newborn screening programs

is to identify affected newborns before the onset of

symptoms. Medical treatment can be promptly initiated to

prevent irreversible medical problems or even death.

Information about each state's newborn screening program

is available on its health department's web site,

(see Genetic Services section of this directory).

4

The identification of susceptibility genes for common

adult-onset genetic diseases is moving the field of

genetics in a new and demanding direction. Diabetes,

certain cancers, and Alzheimer's disease are a few

conditions for which a genetic component has been

identified. Of the top ten leading causes of death in

the U.S., all but one (injuries) has a genetic

component.

Pre-symptomatic and susceptibility genetic testing

have created an entirely new concept-- Healthy

individuals who are expected to develop or have an

increased risk to develop a disorder. The psychosocial

implications of this information represent a continuing

challenge to the genetics profession.

Genetics professionals have valid ethical concerns

about genetic testing and genomic medicine. They

worry about the possible misuse of information about

genetic traits as a basis for denial of health coverage or

employment. Other ethical issues in the field of

genetics include: gene patents, the storage of DNA

samples, and testing minors for adult-onset conditions.

Given these concerns, detailed counseling, informed

consent, and confidentiality are essential components

of the genetic testing process.

Prepared by the CT Department of Public Health

U M B R E L L A O R G A N I Z A T I O N S & R E F E R E N C E S

II.

7

GENETIC ALLIANCE4301 Connecticut Avenue, NWSuite 404Washington, DC 20008Phone: 800-336-4363or 202-966-5557Fax: 202-966-8553Email: [email protected]

The Genetic Alliance is an internationalcoalition comprising millions of individualswith genetic conditions and over 600advocacy, research and health care organi-zations. The staff and board work togetherto empower individuals and families livingwith genetic conditions.

MARCH OF DIMES1275 Mamaroneck AvenueWhite Plains, NY 10605Phone: 888-663-4637or 914-428-7100Fax: 914-997-4763Email: [email protected]

The mission of the foundation is to improvethe health of babies by preventing birthdefects and infant mortality. The March ofDimes funds programs of research, com-munity services, education, and advocacy.

Connecticut Chapters:255 Pitkin StreetEast Hartford, CT 06108Phone: 860-290-5440Fax: 860-290-5433Email: [email protected]/connecticut

South Division:11 Belden AvenueNorwalk, CT 06850Phone: 203-849-9800Fax: 203-847-8060Email: [email protected]/connecticut

A. Umbrella Organizationsand References:

Maine Chapters:60 Gray Road, Unit #8 Falmouth, ME 04105-2024Phone: 207-878-1199Fax: 207-878-1166Email: [email protected]/maine/

Maine Satellite:51 Fern Street Turner, ME 04282Phone: 207-225-6155Fax: 207-225-6156

Northern Division:12 Acme Road Brewer, ME 04412Phone: 207-989-3376Fax: 207-989-5500

Massachusetts Chapter:114 Turnpike Road, Suite 202 Westborough, MA 01581Phone: 508-366-9066Fax: 508-366-6634Email: [email protected]/massachusetts/

Southeastern Division:895 Mary Dunn Rd. Hyannis, MA 02601Phone: 508-790-1093Fax: 508-790-1094

New Hampshire Chapter:22 Bridge Street Concord, NH 03301Phone: 603-228-0317Fax: 603-228-0318Email: [email protected]/newhampshire/

Rhode Island Chapter:260 West Exchange Street, Suite 002 Providence, RI 02903Phone: 401-454-1911Fax: 401-454-1970Email: [email protected]/rhodeisland/

Vermont Chapter:107 N Main Street Barre, VT 05641Phone: 802-479-3265Fax: 802-479-0957Email: [email protected]/vermont/

NEW ENGLAND REGIONALGENETICS GROUP, INC.PO Box 920288Needham, MA 02492Phone: 781-444-0126Fax: 781-444-0127Email: [email protected]

NERGG, Inc., formerly known as the NewEngland Regional Genetics Group, is aconsortium of genetic health servicesproviders, representatives of the NewEngland public health community, andsupport groups and individuals with interestin genetics. NERGG, Inc.'s purpose is topromote the health of both children andadults by increasing the awareness ofgenetic concerns, the understanding ofthe role of genetics in health care, andthe availability of appropriate services.NERGG, Inc. has a particular interest in programs with regional perspectives andactivities. NERGG, Inc. is committed to,and actively involved in: public and pro-fessional education, data collection anddissemination, quality improvement inclinical care, application of new technolo-gies, and the social and ethical issues associated with human genetics.

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NATIONAL HEALTHY MOTHERS,HEALTHY BABIES COALITION121 North Washington StreetSuite 300Alexandria, VA 22314Phone: 703-836-6110Fax: 703-836-3470Email: [email protected]

Focuses attention on raising public aware-ness of the basic components of prenatalcare – early care, good nutrition, avoidanceof drugs (e.g., tobacco and alcohol), andpromotion of breastfeeding.

NATIONAL ORGANIZATION FORRARE DISORDERS (NORD)55 Kenosia AvenueP.O. Box 1968Danbury CT 06813Phone: 800-999-6673 or 203-744-0100Fax: 203-798-2291Email: [email protected]

NORD is a unique federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them.NORD is committed to the identification,treatment, and cure of rare disorders,through programs of education, advocacy,research, and service.

B. On-Line Resources

ON- LINE MENDELIAN INHERITANCEIN MAN (OMIM)www.ncbi.nlm.nih.gov/entrez/query/fcgi?db=OMIM

This database is a catalog of human genesand genetic disorders authored and editedby Dr. Victor A. McKusick and his colleagues.

GENETESTSwww.genetests.org

Information for health professionals about hundreds of genetic tests. Also includeslinks to disease information and geographiclistings of genetic services.

U.S. NATIONAL NEWBORNSCREENING STATUS REPORTwww.genes-rus.uthscsa.edu/ nbsdisorders.pdf

Lists status of newborn screening in theUnited States, state by state, includinglinks to additional conditions states arescreening for using tandem mass spec-trometry. Part of National NewbornScreening and Genetics Resource Center, acooperative agreement between theMaternal and Child Health Bureau GeneticServices Branch and the University ofTexas Health Science Center at San AntonioDepartment of Pediatrics.

NATIONAL INSTITUTES OF HEALTHwww.nih.gov

U.S. Department of Health and HumanServices A-Z index of NIH health resources,clinical trials, health hotlines, MEDLINE plus,and drug information.

NATIONAL LIBRARY OF MEDICINEwww.nlm.nih.gov

Part of the NIH, the world’s largest medicallibrary. Search on health topics, druginformation, medical encyclopedia anddictionary, news, directories, and otherresources. Includes a link to “GeneticsHome Reference”, a web site for supportinformation about genetic conditions, disease summaries, gene and chromosomesummaries, and a glossary of geneticsand medical terminology.

NATIONAL HUMAN GENOMERESEARCH INSTITUTEwww.genome.gov

An on-line listing of information forresearchers, consumers, support and advocacy groups, health professionals, andpolicy makers. Includes links to clinicalgenetics resources, search engines and familyhistory tools, support resources, supportgroups, legal and ethical issues in genetics,and educational and genetic resources forhealth professionals such as primary careproviders and nurses.

INFORMATION FOR GENETICPROFESSIONALSwww.kumc.edu/gec/geneinfo.html

This comprehensive on-line service, basedat University of Kansas Medical Center,provides clinical, research, and educationalresources for genetic counselors, clinicalgeneticists and medical geneticists. Thissite includes Human Genome Projectresources, centers, news and other onlinesites; educational resources including curricula, lesson plans and activities, courses,books and other publications, videotapes,and computer programs; listings of upcom-ing professional meetings in genetics; andinformation on careers in human genetics.

C. Professional GeneticsSocieties

AMERICAN COLLEGE OF MEDICALGENETICS (ACMG)9650 Rockville PikeBethesda, MD 20814Phone: 301-634-7127Fax: 301-634-7275Email: [email protected]

ACMG is an organization composed ofbiochemical, clinical, cytogenetic, medicaland molecular geneticists, genetic coun-selors and other health care professionalscommitted to the practice of medicalgenetics. The ACMG provides education,resources and a voice for the medicalgenetics profession. To make genetic services available to and improve thehealth of the public, the ACMG promotesthe development and implementation ofmethods to diagnose, treat and preventgenetic disease.

AMERICAN SOCIETY FOR HUMANGENETICS9650 Rockville PikeBethesda, MD 20814Phone: 866-HUM-GENE or 301-634-7300Email: [email protected]

The American Society for Human Genetics

is composed of researchers, academicians,clinicians, laboratory professionals, geneticcounselors, and nurses with the objectivesof sharing research, informing health professionals, legislators, health policy makers and the public about humangenetics, and facilitating interactionsamongst these groups.

NATIONAL SOCIETY OF GENETICCOUNSELORS (NSGC)Executive Office401 N. Michigan AVenueChicago, IL 60611Phone: 312-321-6834Fax: 312-673-6972Email: [email protected]

The NSGC is the leading voice, authorityand advocate for the genetic counselingprofession, with the aim of promoting thegenetic counseling profession as a recog-nized and integral part of health caredelivery, education, research and publicpolicy. In addition, the NSGC promotesthe professional interests of genetic counselors and provides a network forprofessional communications.

NATIONAL COALITION FOR HEALTHPROFESSIONAL EDUCATION INGENETICS (NCHPEG)2360 West Joppa Road, Suite 320Lutherville, MD 21093Phone: 410-583-0600Fax: 410-583-0520Email: [email protected]

NCHPEG is a national effort to promotehealth professional education and accessto information about advances in humangenetics. NCHPEG members are an inter-disciplinary group of leaders from healthprofessional organizations, support andvoluntary groups, government agencies,private industry, managed care organiza-tions and genetics professional societiesseeking to capitalize on the collectiveexpertise and experience of members andto reduce duplication of effort.

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D. Reference Texts

Emery and Rimoin’s Principles andPractices of Medical Genetics by Connor, J. M., Pyeritz, R., Korf, B.,and Rimoin, D.Churchhill Livingstone, 4th Edition,2001

Extensive reference on the basic scienceand clinical applications of medicalgenetics. For primary care physicians,specialists, and students.

Management of Genetic Syndromes by Cassidy, S. B. and Allanson, J. E.Wiley-Liss, 2001

Covers 30 common genetic syndromes. Information on incidence, etiology and pathogenesis, natural history, diagnostic criteria, spectrum of variation, recurrence risk in siblings and offspring, and availabilityof prenatal diagnosis and diagnostic testing.

Smith’s Recognizable Patterns ofHuman Malformation by Jones, K. L.W. B. Saunders Company, 5thEdition, 1996

Clinical atlas of malformations. Discusses morphogenesis, genetics, genetic coun-seling and clinical diagnosis.

The Metabolic and Molecular Basesof Inherited Disease by Scriver, C. R., Sly W. S., Childs, B.,Beaudet, A. L., Valle, D., Kinzler, K.W., and Vogelstein, B.McGraw-Hill, 8th Edition, 2000

The undisputed authority on geneticinheritance. Information about everyknown inherited disease.

The Practical Guide to the Genetic Family History by Bennett, R. L.Wiley-Liss, 1999

Thorough and well-organized with acomplete index and references; especiallyuseful for the primary care physician.

Practical Genetic Counseling by Harper, P. S.Arnold Publishers, 6th Edition, 2004

This book provides up to date guidancethrough the profusion of new geneticinformation and the associated psychoso-cial and ethical considerations and concerns.

A Guide to Genetic Counseling by Baker, D. L., Schuette, J. L., and Uhlmann, W. R.John Wiley & Sons, 1998

Defines theory, goals, and core competencies associated with the practice of genetic counseling.

Structural Fetal Abnormalities: The Total Picture by Sanders, R., Blackmon, L. andRosenatien, B.Textbook paperback, 2002

Reference text of ultrasound diagnosed fetal anomalies.

Ultrasound of Fetal Syndromes by Benacerraf, B. R.Churchhill Livingstone, 1998

Thorough quick reference volume ofultrasound anomalies and possible syndromic etiologies, juxtaposed withultrasound findings in specific syndromes.

S U P P O R T O R G A N I Z A T I O N S & R E S O U R C E S

III.

14

ACHONDROPLASIA

Little People of America5289 NE Elam Young ParkwaySuite F-700Hillsboro, OR 97124Phone: 888-LPA-2001 or 503-846-1562Fax: 503-846-1590Email: [email protected]

District 1 (CT, ME, MA, NH, RI, VT)Director, Casey HubelbankPhone: 203-641-9760Email: [email protected]

ADDITIONAL WEB RESOURCES:

International Skeletal DysplasiaRegistry at Cedars-Sinai HealthSystemwww.csmc.edu/medgenetics/3086.asp

A referral center for research into thediagnosis, management, and etiology ofskeletal dysplasias.

ADDITIONAL LITERATURE:

Little People: Learning to See theWorld Through My Daughter’s Eyes by Kennedy, D.Rodale Books, 2003

Written by the father of a child withachondroplasia, this book confronts thedeepest of parental fears: What if mychild is different? His search for ananswer provides a penetrating look athow our culture of diversity clashes withthe reality of disability and the beliefthat we have a right to the so-called perfect child.

Stones from the River by Hegi, U.Simon & Schuster, 1994

Fictional story of a woman with a skeletal dysplasia, coming of age just as Hitler’s pronouncements begin to threaten theJewish residents of her town, and all ofGermany.

This section lists contact informationfor support groups, including NewEngland state chapters where appro-priate. If your state of interest doesnot appear to have a chapter for aparticular group, we suggest contact-ing that group's national office forassistance.

15

Mendel’s Dwarf by Mawer, S.Penguin Books, 1999

This novel tells the story of BenedictLambert, a distant relative of GregorMendel. Like Mendel, Lambert is a brilliant geneticist. Unlike Mendel,Lambert is a dwarf. The story is a mix of humor and philosophy.

ADRENAL DISORDERS

National Adrenal DiseasesFoundation505 Northern BoulevardGreat Neck, NY 11021Phone: 516-487-4992Fax: 516-829-5710Email: [email protected]/www/nadf.htm

Connecticut Contact: Eileen CoreyPhone: 203-283-3546Email: [email protected]

Maine Contact: Rachel BennettPhone: 207-549-5583Email: [email protected]


Your Adrenal Glandswww.endocrineweb.com/adrenal.htm

Information on the anatomy and physiol-ogy of the adrenal glands.

ALAGILLE SYNDROME

Alagille Syndrome Alliance10500 SW Starr DriveTualatin, OR 97062Phone: 503-885-0455Email: [email protected]


Cincinnati Children’s Hospital MedicalCenter page on Alagille syndromewww.cincinnatichildrens.org/svc/pro/liver/diseases/alagille-syndrome.htm

Information on genetics, signs and symptoms,

diagnosis, treatment, and prognosis ofAlagille syndrome.

ALBINISM AND HYPOPIGMENTATION

National Organization for Albinismand Hypopigmentation (NOAH)P.O. Box 959East Hampstead, NH 03826Phone: 800-473-2310 or 603-887-2310Fax: 800-648-2310Email: [email protected] local resources, call national office.

Hermansky-Pudlak SyndromeNetwork, Inc.1 South RoadOyster Bay, NY 11771Contact: Donna AppellPhone: 800-789-9477 or 516-922-4022Fax: 516-624-0640Email: [email protected] www.hpsnetwork.org

Chediak Higashi Syndrome AssociationA division of the Hermansky-PudlakSyndrome Network.www.chediak-higashi.org


International Albinism Center at theUniversity of Minnesotawww.sbs.umn.edu/iac

Web page of a multidisciplinary group ofresearchers with interests in clinicalgenetics, molecular biology, ophthalmol-ogy, dermatology, and biochemistry, allwith the goal of understanding the causesand effects of albinism and other forms ofpigment loss in humans.


Too White to be Black and Too Black to be White by Edwards, L.G.; Authorhouse, 2001

Expresses the true emotion and life experiences of the author, an AfricanAmerican with albinism.

16

ALZHEIMER S DISEASE

Alzheimer’s Association225 North Michigan AvenueSuite 1700Chicago, IL 60601Phone: 800-272-3900 or 312-335-8700Fax: 312-335-1110Email: [email protected]

Connecticut Chapter:279 New Britain RoadP.O. Box 454Kensington, CT 06037Phone numbers: Helpline: 866-363-6679 Business line: 860-282-2828Fax: 860-828-2417www.alzct.org (links to 98 support groups)

Maine Chapter:163 Lancaster St; Suite 160BPortland, ME 04101 Helpline: 800-660-2871Business Line: 207-772-0115Fax: 207-772-0354www.mainealz.org

Massachusetts Chapter:311 Arsenal StreetWatertown, MA 02472 Helpline(s): 800-548-2111Business Line: 617-868-6718Fax: 617-868-6720www.alzmass.org

Rhode Island Chapter:245 Waterman Street, Suite 306Providence, RI 02906Helpline(s): 800-244-1428Business Line: 401-421-0008Fax: 401-421-0115www.alz-ri.org

Vermont and New Hampshire Chapter:10 Ferry Street Suite 42BConcord, NH 03301 Helpline(s): 800-272-3900Business Line: 802-477-7000Fax: 802-477-7003www.alzvtnh.org

Alzheimer’s Foundation of America322 8th Avenue, 6th floorNew York, NY 10001Phone: 866-232-8484Fax: 646-638-1546Email: [email protected](Members section links to local supportgroups by state)


Alzheimer’s Disease Education andReferral Center (ADEAR)www.alzheimers.org

A service of the National Institute on Aging,the ADEAR center is a site that can be usedto find current, comprehensive Alzheimer’sDisease information and resources.


Alzheimer’s Early Stages: First Stepsfor Family, Friends, and Caregivers by Kuhn, D. and Bennett, D.A.Hunter House, 2nd Edition, 2003

Information on risk factors, treatment,prevention, medications, financial aspects,and reflections by family members.

Learning to Speak Alzheimer’s: AGroundbreaking Approach forEveryone Dealing with the Disease by Coste, J.K.Houghton Mifflin, 2003

Provides hundreds of practical tips toease life for everyone coping withAlzheimer’s disease.

AMYOTROPHIC LATERAL SCLEROSIS

ALS Association27001 Agoura RoadSuite 150Calabasas Hills, CA 91301Phone: 800-782-4747 or 818-880-9007Fax: 818-880-9006Email: [email protected]

17

Connecticut Chapter:4 Oxford RoadUnit D1Milford, CT 06460Phone: 877-257-2281 or 203-874-5050Fax: 203-874-7070Email: [email protected] Person - Joan Argentowww.alsact.org

Massachusetts Chapter:75 McNeil Way, Ste. 310Dedham, MA 02026Phone: 781-326-8884 Fax: 781-326-4940 Contact Person - Judy TeplowEmails: [email protected]

Northern New England Chapter: (coversMaine, Vermont and New Hampshire)The Concord Center10 Ferry St., Ste. 438Box 314Concord, NH 03301Phone: 603-226-8855Fax: 603-226-8890Contact Person - Cheryl FlandersEmail: [email protected]

Rhode Island Chapter:Gateway Plaza1637 Warwick Ave.Warwick, RI 02889Phone: 401-732-1609Fax: 401-732-2577Contact Person - Lynn McGovernEmail: [email protected]

ASTHMA

Allergy and Asthma Network —Mothers of Asthmatics, Inc.2751 Prosperity AvenueSuite 150Fairfax, VA 22031Phone: 800-878-4403 or 703-641-9595Fax: 703-573-7794Email: [email protected]

American Lung Association61 Broadway, 6th floorNew York, NY 10006Phone: 800-586-4872 or 212-315-8700Fax: 212-315-8800Email: [email protected]

Connecticut Chapter:American Lung Association ofConnecticut45 Ash StreetEast Hartford, CT 06108Phone: 800-586-4872 or 860-289-5401FAX: 860-289-5405Email: [email protected]

Massachusetts Chapters:American Lung Association ofMassachusetts460 Totten Pond Road, Suite 400Waltham, MA 02451-1991Phone: 781-890-4262Fax: 781-890-4280Email: [email protected]/massachusetts/index.html

American Lung Association ofMassachusetts (Western Area)393 Maple StreetSpringfield, MA 01105-1954Phone: 413-737-3506Fax: 413-737-3511Email: [email protected]/massachusetts/index.html

Goldfish have more...chromosomes than

humans.

18

Maine Chapter:American Lung Association of Maine122 State StreetAugusta, ME 04330Phone: 207-622-6394Fax: 639-426-2919 EMail: [email protected] www.mainelung.org

New Hampshire Chapter:American Lung Association of NewHampshire9 Cedarwood Drive, Unit 12Bedford, NH 03110Phone: 603-669-2411Fax: 603-645-6220Email: [email protected]/

Rhode Island Chapter:American Lung Association of RhodeIsland298 West Exchange StreetProvidence, RI 02903-3700Phone: 401-421-6487Fax: 401-331-5266Email: [email protected]/rhodeisland/index.html

Vermont Chapter:American Lung Association of Vermont30 Farrell StreetSouth Burlington, VT 05403-6196Phone: 802-863-6817Fax: 802-863-6818Email: [email protected]/vermont/

American Academy ofAllergy Asthma and Immunology555 East Wells StreetSuite 110Milwaukee, WI 53202Phone: 800-822-2762 or 414-272-6071Fax: 414-272-6070Email: [email protected]

Asthma and Allergy Foundation of America, Inc.1233 20th Street NWSuite 402Washington, DC 20036Phone: 800-727-8462 or 202-466-7643Fax: 202-466-8940Email: [email protected]

New England Chapter:220 Boylston StreetChestnut Hill, MA 02467Phone: 877-2-ASTHMA or 617-965-7771Fax: 617-965-8886Email: [email protected]


Global Initiative for Asthma (GINA)www.ginasthma.com

Objectives of GINA include: increaseawareness of asthma and its public healthconsequences, reduce morbidity andmortality, improve management, andincrease the availability and accessibilityof effective asthma therapy.


The Harvard Medical School Guide toTaking Control of Asthma: AComprehensive Prevention andTreatment Plan for You and YourFamilyby Fanta, C.H., Cristiano L.M., andHaver, K.Simon & Schuster, 2003

Discusses diagnosis, symptoms, individual management plans, current therapies,and pros and cons of medications.

ATAXIA TELANGIECTASIA

Ataxia Telangiectasia ChildrenÕs Project6685 Military TrailDeerfield Beach, FL 33442Phone: 800-543-5728 or 954-481-6611Fax: 954-725-1153Email: [email protected] local resources, call national office.

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A-T Medical Research Foundation5241 Round Meadow RoadHidden Hills, CA 91302Phone: 818-704-8146Fax: 818-704-8310Email: [email protected]: Pamela Smith


Ataxia Telangiectasia MutationDatabasewww.vmresearch.org/bri_investiga-tors/atm.htm

Scientific site containing listings of ATmutations associated with cancer, AT polymorphisms and variants, andnucleotide sequence of AT gene. Includes clinical information on AT.

AUTISM

Autism Research Institute4182 Adams AvenueSan Diego, CA 92116Phone: 619-281-7165Fax: 619-563-6840www.autismresearchinstitute.com

Autism Society of America7910 Woodmont AvenueSuite 300Bethesda, MD 20814Phone: 800-3AUTISM or 301-657-0881Fax: 301-657-0869www.autism-society.org

Connecticut Chapter:P.O. Box 1404Guilford, CT 06437Phone: 888-453-4975Email: [email protected]

Maine Chapter:72B Main StreetWinthrop, ME 04364Phone: 800-273-5200Email: [email protected]/

Massachusetts Chapter:47 Walnut StreetWellesley Hills, MA 02481Phone: 781-237-0272Email: [email protected]/asamasschapter/

New Hampshire Chapter:PO Box 68Concord, NH 03302Phone: 603-679-2424Email: [email protected]/

Rhode Island Chapter:PO Box 16603Rumford, RI 16603Phone: 401-595-3241

Vermont Chapter:PO Box 978White River Junction, VT 05001Phone: 800-559-7398

National Alliance for AutismResearchResearch Park99 Wall StreetPrinceton, NJ 08540Phone: 888-777-6227 or 609-430-9160Fax: 609-430-9163Email: [email protected]

NAAR — New England Chapter124 Watertown StreetSuite 3B, Box 6Watertown, MA 02472Phone: 617-924-3300Fax: 617-924-3311Email: [email protected]


Exploring Autism: A Look at theGenetics of Autismwww.exploringautism.org

A web site dedicated to helping familieswho are living with the challenges ofautism. A collaborative effort of AutismGenetics Cooperative, a group ofresearchers and clinicians working to findthe genetic causes of autism.

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Children with Autism: A ParentÕsGuideby Powers, M.D. and Grandin, T.Woodbine House, 2nd Edition, 2000

Includes chapters on diagnosis and treat-ment, adjusting to life with an autisticchild, finding good education programs,legal rights of the autistic child, becom-ing an advocate for a child and specialproblems and needs of the adult withautism. Provides a list of resources forautistic individuals in the United States.

Facing Autism: Giving Parents Reasonsfor Hope and Guidance for Help By Hamilton, L.M.Waterbrook Press, 2000

A treasury of detailed, helpful informationfrom a mother who carefullly investigatedall promising treatment approaches.

Family Pictures: A Novel by Miller, S.Perennial, 1999

A fictional story told through the eyes offour family members. The complexity offamily relationships is illustrated throughtheir reactions to a family member withautism.

Nobody Nowhere: The Extraordinary Autobiography of an Autistic by Williams, D.Crown, 1992

The author details what it is like to growup autistic and the price one pays forbeing “high-functioning.”

Somebody Somewhere: Breaking Freefrom the World of Autism by Williams, D.Crowns, 1994

Sequel to “Nobody Nowhere,” theauthor describes her life as a publishedauthor and graduate student.

BATTEN DISEASE

Batten Disease Support and Research Association120 Humphries DriveSuite 2Reynoldsburg, OH 43068Phone: 800-448-4570 or 740-927-4298Fax: 614-445-4191Email: [email protected]

New England Chapter:Diane Burl22 Carver StreetGranby, MA 01033Phone: 413-467-2294


The Natalie Fundwww.nataliefund.org

Striving to find a treatment and cure forBatten Disease. Goals include raisingfunds for research, enhancing communityawareness, and providing informationand support for families with affectedchildren.

BECKWITH- WIEDEMANNSYNDROME

Beckwith-Wiedemann SupportNetworkwww.beckwith-wiedemann.org

If typed, the genetic codeof a human would fill about 134

complete sets of the Encyclopedia Brittanica.

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CANAVAN DISEASE

Canavan Foundation450 West End Avenue #10CNew York, NY 10024Phone: 877-4-CANAVAN or 212-873-4640Fax: 212-873-7892Email: [email protected]

National Tay-Sachs and AlliedDiseases Association2001 Beacon StreetSuite 204Brighton, MA 02135Phone: 800-906-8723Fax: 617-277-0134Email: [email protected]

Connecticut Chapter:(Serving Connecticut, New Jersey andNew York)1202 Lexington Avenue #288New York, NY 10028Phone: 888-354-7788 or 212-431-0431Fax: 888-354-4884Email: [email protected]


Center for Jewish DiseasesMt. Sinai School of Medicinewww.mssm.edu/jewish_genetics/diseases/canavan.shtml

Includes disease description, natural history, genetics and testing information.

Medical College of WisconsinHealthLink: The Facts about CanavanDiseasewww.healthlink.mcw.edu/article/921391101.htm

Provides disease description, including screening and diagnosis, signs and symptoms, and research, and links toother informative sites.

CANCER

American Cancer Society1599 Clifton Road, NEAtlanta, GA 30329Phone: 800-227-2345 or 404-320-3333Email available through web site only.www.cancer.org

CONNECTICUT CHAPTERS372 Danbury RoadWilton, CT 06897Phone: 203-563-0740Fax: 203-563-0738

238 West Town StreetNorwich, CT 06360Phone: 860-887-2547Fax: 860-885-0820

Meriden Executive Park538 Preston AvenueMeriden, CT 06450Phone: 203-379-4700Fax: 203-379-5060

Maine Chapter:One Main Street; Suite 300Topsham, ME 04086Phone: 207-373-3700Fax: 207-725-6680

Massachusetts Chapters:18 Tremont StSuite 700Boston, MA 02108Phone: 617-556-7400Fax: 617-263-6825

1115 W Chestnut StBrockton, MA 02301Phone: 508-584-9600Fax: 508-584-9699

59 Bobala RdHolyoke, MA 01040Phone: 413-734-6000Fax: 413-493-2199

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9 Riverside RdWeston, MA 02493Phone: 781-894-6633Fax: 781-314-2699

350 Plantation StWorcester, MA 01604Phone: 508-270-4600Fax: 508-751-8095

New Hampshire Chapter:360 Route 101, Unit #8The Gail Singer Memorial BuildingBedford, NH 03110Phone: 603-472-8899Fax: 603-472-7093

Rhode Island Chapter:222 Richmond St.Suite 200Providence, RI 02903Phone: 401-722-8480Fax: 401-421-0535

Vermont Chapter:121 Connor Way, Ste 240Williston, VT 05495Phone: 802-872-6300Fax: 802-872-6399

Candlelighters Childhood CancerFoundationP.O. Box 498Kensington, MD 20895Phone: 800-366-2223 or 301-962-3520Fax: 301-962-3521Email: [email protected]

New Hampshire Chapter:Childhood Cancer Lifeline of NewHampshireP.O. Box 395Hillsboro, NH 03244Contact: Sylvia Pelletier, PresidentPhone: [email protected]

Services: Candlelighters national books,support group meetings, in-hospital visits.


National Cancer InstituteÕs CancerNetwww.cancer.gov/cancerinfo/preven-tion-genetics-causes

Authoritative information about cancergenetics.

Harvard Center for Cancer Preventionwww.yourcancerrisk.harvard.edu

Personalized estimation of cancer riskand tips for prevention.

Guide to Internet Resources for Cancerwww.cancerindex.org

Nonprofit guide containing over 100 pagesand over 4000 links to cancer relatedinformation. Site is regularly updated.


A Practical Guide to Human CancerGenetics by Hodgson, S.V. and Maher, E.R.Cambridge University Press, 2ndEdition, 1999

An essential overview of human cancer genetics.

Counseling About Cancer: Strategiesfor Genetic Counselingby Schneider, K.Wiley-Liss, 2nd Edition, 2001

A comprehensive resource includingmedical and psychological issues, cancerrisk counseling, predisposition testing,and essential references.

Healing Lessons by Winawer, S.J. and Taylor, N.Rutledge, 1999

The story of Dr. Sidney Winawer, chief of gastroenterology at Memorial Sloan-Kettering Cancer Center, and his wife,Andrea, dealing with her diagnosis ofmetastatic stomach cancer.

It s Not About the Bike; My JourneyBack to Life by Armstrong, L. and Jenkins, S.Berkley Publishing Group, 2001

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The story of Lance Armstrong, a world-class athlete nearly struck down by cancer,only to recover and win the grueling andintense Tour de France.

Staying Alive — A Family Memoir by Reibstein, J.Bloomsbury Publishing PLC, 2002

Follows a successful, ethnically mixedAmerican family typical only in the diagnosis of breast cancer that hangs likea dark cloud over all its women.

The Truth About Breast Cancer RiskAssessmentby Hollingsworth, A.B.National Writers Press, 2000

Learn how risk factors are assembled intoa personal profile.

CARBOHYDRATE- DEFICIENTGLYCOPROTEIN SYNDROME

CDG Family Network FoundationP.O. Box 860847Plano, TX 75086Phone: 800-250-5273Fax: 972-633-8088Email: [email protected]

CEREBRAL PALSY

United Cerebral Palsy Association1660 L Street NWSuite 700Washington, DC 20036Phone: 800-872-5827 or 202-776-0406Fax: 202-776-0414Email: [email protected]

Connecticut Chapters:UCP of Eastern Connecticut42 Norwich RoadQuaker Hill, CT 06375Phone: 860-443-3800Fax: 860-443-8272Email: [email protected]

UCP of Greater Hartford80 Whitney StreetHartford, CT 06105Phone: 860-236-6201Fax: 860-236-6205Email: [email protected]

UCP of Southern Connecticut94-96 South Turnpike RoadWallingford, CT 06492Phone: 203-269-3511Fax: 203-269-7411Email: [email protected]

Massachusetts Chapters;UCP of Berkshire County208 West StreetPittsfield, MA 01201Phone: 413-442-1562Fax: 413-499-4077E-mail: [email protected]

UCP of MetroBoston71 Arsenal StreetWatertown, MA 02472Phone: 617-926-5480Fax: 617-926-3059E-mail: [email protected]

Maine Chapter:UCP of Northeastern Maine700 Mt. Hope Avenue, Suite 320Bangor, ME 04401Phone: 207-941-2952Fax: 207-941-2955E-mail: [email protected]

Rhode Island Chapter:UCP of Rhode Island200 Main Street, Suite 210P.O. Box 36Pawtucket, RI 02862Phone: 401-728-1800Fax: 401-728-0182E-mail: [email protected]

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National Disability Sports Alliancewww.ndsaonline.org

Servicing all individuals with physical disabilities in the areas of sports, fitness,and recreation. Also known as theUnited States Cerebral Palsy AthleticAssociation.

The Cerebral Palsy Networkwww.geocities.com/Heartland/Plains/8950

A resource for information, sharing, andsupport.


Cerebral Palsy: A Complete Guide forCaregivingby Miller, F. and Bachrach, S.J.Johns Hopkins University Press, 1998

This overview of CP explains medical procedures and medical and psychologicalimplications, discusses advocacy, providesrecommended reading and a list of resources.

CHARCOT- MARIE- TOOTH

Charcot-Marie-Tooth Association2700 Chestnut StreetChester, PA 19013Phone: 800-606-2682Fax: 610-499-9267Email: [email protected]

Connecticut Chapater:Contact Beverly WurzelPhone: 845-783-2815Email: [email protected]


CMTnetwww.users.rcn.com/smith.ma.ultr-ranet/CMTneto.html

Repository of information on researchand treatment of CMT for both the med-ical and non-medical community.

CHROMOSOME ABNORMALITIES

(See also Down syndrome, Klinefeltersyndrome, Turner syndrome, Fragile Xsyndrome)

Chromosome Deletion OutreachP.O. Box 724Boca Raton, FL 33429Phone: 561-395-4252Fax: 561-395-4252 call firstEmail: [email protected]

4p- Support GroupP.O. Box 1676Gresham, OR 97030Phone: 503-661-7546Email: [email protected]

5p- SocietyP.O. Box 268Lakewood, CA 90714Phone: 888-970-0777or 562-804-4506Fax: 562-920-5240Email: [email protected] orwww.criduchat.org

Northeastern Regional Family Support Coordinator:Contact Ruthie LibermanLexington, MAPhone: 781-861-3962

8p Duplication Support GroupThe Genetics Center1 Children’s PlazaDayton, OH 45404Phone: 937-641-3800New patient: 937-641-4000Fax: 937-463-5325Email: [email protected]

Chromosome 9p- NetworkP.O. Box 54Stanley, ID 83278Phone: 435-574-1121Fax: 435-574-2000Email: [email protected]

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11q Research and Resource Group83 Lantern Hill RoadMystic, CT 06355Phone: 860-599-4015Fax: 860-441-6159http://web.ukonline.co.uk/c.jones/11q/contents.htm

Trisomy 12p Parent SupportOrganization175 Lawndale RoadMansfield, MA 02048Phone: 508-339-1680Fax: 508-339-0504Email: [email protected]

IDEAS (Isodicentric 15 Exchange, Advocacy, and Support)18 Kings RoadCanton, MA 02021Phone: 508-253-2872Email: [email protected]

Disorders of Chromosome 16Foundation1321 Marcy StreetIowa City, IA 52240Email: [email protected]

Support Organization for Trisomy 18,13 and Related Disorders (SOFT)2982 South Union StreetRochester, NY 14624Phone: 800-716-7638 or 585-594-4621Fax: 716-594-1957Email: [email protected]

Connecticut contact: Lisa and Robert Handel1473 Forbes StreetEast Hartford, CT 06118Phone: 860-568-0171Email: [email protected]

Massachusetts and Maine contact:Michael and Pamela Healey18 Richard Rd.Lexington, MA 02421Phone: 781-862-8273Email: [email protected]

New Hampshire contact:Marie Primeau19 West Ridge DrivePeterborough, NH 03458Phone: 603-924-3603Email: [email protected]

Trisomy 18 Support Foundation, Inc.4491 Cheshire Station PlazaSuite 157Dale City, VA 22193Phone: 703-878-7013Fax: 703-878-7013Email: [email protected]

Chromosome 18 Registry and Research Society7155 Oakridge DriveSan Antonio, TX 78229Phone: 210-657-4968Fax: 210-657-4968Email: [email protected]

New England Regional Coordinator:Deb AmmannPhone: 631-223-3039Email: [email protected]

Sometimes genes “jump”around on a chromosome.

26

22q and You CenterThe Department of Clinical GeneticsThe Children’s Hospital of Philadelphia34th Street and Civic Center BoulevardPhiladelphia, PA 19104Phone: 215-590-2920Fax: 215-590-3298Email: [email protected]/consumer/jsp/division/generic.jsp?id=74631

Maine Contact:Sharon SmithRR 2 Box 8780Canaan, ME 04924Phone: 207-474-5374Email: [email protected]

New Hampshire Contact:Maureen Anderson2 Lansing DriveSalem, NH 03079Phone: 613- 898-6332Email: [email protected]

Ring Chromosome 22 EmailDiscussion List14 Westwood AcresMorris, MN 56267Phone: 320-589-1050Email: [email protected]/archives/r22.htm


Chromosome Abnormalities andGenetic Counseling by Gardner, RT.J.M. and Sutherland, G.R.Oxford University Press, 3rd Edition, 2003

A textbook/reference for genetic counselorsand cytogenetic laboratory workers. Presentsthe theoretical basis of clinical cytogenetics.

CLEFT LIP/ PALATE ANDCRANIOFACIAL DISORDERS

AboutFace USAP.O. Box 158South Beloit, IL 61080-0158Phone: 888-486-1209Fax: 630-761-2985

Email: [email protected] main office or check web site for local support groups.

American Cleft Palate — CraniofacialAssociation1504 East Franklin StreetSuite 102Chapel Hill, NC 27514Phone: 919-933-9044Fax: 919-933-9604Email: [email protected]

ChildrenÕs Craniofacial Association13140 Coit RoadSuite 307Dallas, TX 75240Phone: 800-535-3643Fax: 214-570-8811Email: [email protected]

Cleft Palate Foundation1504 East Franklin StreetSuite 102Chapel Hill, NC 27514Phone: 800-242-5338Fax: 919-933-9044Email: [email protected]

F.A.C.E. (Families AdvancingCraniofacial Excellence)P.O. Box 185Unionville, CT 06085Phone: 860-673-1829Fax: 860-673-1829Email: [email protected]

FACES: The National CraniofacialAssociationP.O. Box 11082Chattanooga, TN 37401Phone: 800-332-2373Fax: 423-267-3124Email: [email protected]

Let s Face ItP.O. Box 29972Bellingham, WA 98228Phone: 360-676-7325

27

Fax: contact office for faxing informationEmail: [email protected]


Smileswww.cleft.org

A group of dedicated families who havedeveloped a first-hand understanding ofthe needs of children with cleft lip, cleftpalate and craniofacial abnormalities.

Wide Smileswww.widesmiles.org

Offers support, inspiration, informationand networking for families dealing with the challenges associated with cleft-ing.


A ParentÕs Guide to Cleft Lip andPalate by Moller, K.T., Starr, C.D. andJohnson, S.A.University of Minnesota Press, 1990

One parent has said that this bookshould be required reading for everynew parent of a child with a cleft lip orpalate. Available used or at libraries.

Baby face: A Story of Heart and Bones by McDermott, J.Penquin Books, 2002

The story of a child with Apert syndrome.Available used or at libraries.

Cleft Lip and Palate: From Origin toTreatment by Wyszynski, D.F.Oxford University Press, 2002

Addressing issues that are relevant to clinicians, researchers and family members,this book is a comprehensive, well-illustrated and up-to-date account of themany facets of this common disorder.

COFFIN- LOWRY SYNDROME

Coffin-Lowry Syndrome Foundation3045 255th Avenue SESammamish, WA 98075Phone: 425-427-0939Email: [email protected]

Maine Contact:Mark & Lynn Richards90 Hunts Meadow RoadWhitefield, ME 04353Phone: 207-549-5511 Email: [email protected]

Massachusetts Contact:Ronald and Deborah Gallagher45 Harrison AvenueWilliamstown, MA 01267 Phone: 413-458-2213Email: [email protected]

CONGENITAL ADRENALHYPERPLASIA

CARES Foundation, Inc. (CongenitalAdrenal Hyperplasia, Research,Education and Support)189 Main Street2nd floorMillburn, NJ 07041Phone: 866-227-3737 or 973-912-3895Fax: 973-912-3894Email: [email protected]

Connecticut contact:Lynn ToronyPhone: 203-264-6898Fax: 203-264-0529Email: [email protected]

Maine contact:Jeff & Jody SpearPhone: 207-832-2006Email: [email protected]

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CAH Education and Support Networkwww.congenitaladrenalhyperplasia.org

Includes: “What Is CAH?”, message boards,medical links, glossary, and FrequentlyAsked Questions.

CONGENITAL HYPOTHYROIDISM

American Foundation of ThyroidPatientsP.O. Box 4914Odessa, TX 79760Email: [email protected]

Thyroid Foundation of America, Inc.1 Longfellow PlaceSuite 1518Boston, MA 02114Phone: 800-832-8321Fax: 617-534-1515Email: [email protected]


Educating Parents of Extra-SpecialChildrenwww.epeconline.com/CongenitalHypothyroidism.html

Information for adults with special needsand parents of special needs children.Overview of congenital hypothyroidismwith links to American Academy ofPediatrics.

CORNELIA DE LANGE SYNDROME

Cornelia de Lange SyndromeFoundation302 West Main StreetSuite 100Avon, CT 06001Phone: 800-223-8355 or 860-676-8166Fax: 860-676-8337Email: [email protected]


CDLS Online Support Groupwww.cdls-support.orgThis online group focuses on parents, caregivers and families, friends, teachersand other professionals. Includes emailgroup for siblings, and Spanish speakingmembers.

CROHN S DISEASE AND COLITIS

CrohnÕs and Colitis Foundation ofAmerica386 Park Avenue South17th floorNew York, NY 10016Phone: 800-932-2423 or 212-685-3440Fax: 212-779-4098Email: [email protected]

Connecticut Chapters:

Central Connecticut ChapterP.O. Box 185431Hamden, CT 06518Phone: 203-393-8964Fax: 203-248-7832Email: [email protected]

Fairfield/Westchester Chapter200 Bloomingdale RoadWhite Plains, NY 10605Phone: 914-328-2874Fax: 914-328-2946Email: [email protected]

Humans are 99.9% identical - only 0.1% of our

genetic makeup differs.

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Northern Connecticut AffiliateP.O. Box 370614West Hartford, CT 06137

New England Chapter:Contact: Stacey SnyderPhone: 800-314-3459 ext. 13 or 781-449-0324Fax: 781-449-0325 Email: [email protected]


CrohnÕs Disease Resource Centerwww.healingwell.com/ibd

This site includes a resource directory,message boards, chat rooms, and links toother organizations.


The First Year — CrohnÕs Disease andUlcerative Colitis: An Essential Guidefor the Newly Diagnosed by Sklar, J. and Sklar, M.Marlowe & Company, 2002

Covers strategies for necessary lifestylechanges, guidelines and tips for modifyingdiet, choosing a medical team, discussingthe condition with family, current medicalresearch, support resources, and more.

The CrohnÕs Disease and UlcerativeColitis Fact Book by the Crohn’s and Colitis FoundationBanks, P.A., Present, D.H. and Steiner, P.John Wiley & Sons, 1983

An older text but a good general introduction to the diseases.

CYSTIC FIBROSIS

The Cystic Fibrosis Foundation6931 Arlington RoadSuite 200Bethesda, MD 20814Phone: 800-344-4823 or 301-951-4422Fax: 301-951-6378Email: [email protected]

Connecticut Chapter:185 Silas Deane HighwayWethersfield, CT 06109Phone: 800-841-2828 or 860-257-6907Fax: 860-257-6903Email: [email protected]/connecticut.htm

Massachusetts/Rhode Island Chapter:Natick, MAPhone: 508-655-6000Email: [email protected]/Chapters/massachusetts/

Northern New England Chapter: (Maine,New Hampshire and Vermont)Nashua, NHPhone: 603-598-8191Email: [email protected]/Chapters/newengland/


Cystic Fibrosis Mutational Databasewww.genet.sickkids.on.ca/cftr

This database of mutations in CFTR geneprovides CF researchers and related profes-sionals with up-to-date information aboutindividual mutations.

Cystic Fibrosis.comwww.cysticfibrosis.com

This site incudes CF information, frequently asked questions, a “Just forKids” section, and links to CF associationsand clinical trials.

Cystic Fibrosis FoundationGenotyping Centerwww.hopkinsmedicine.org/cfgenotyping

Their mission is to detect CFTR mutationsin patients with unusual forms of CF,coordinate collection of genotype/pheno-type information, and increase and facili-tate communication between CFresearchers and clinicians working withpatients with non-classical CF.

30

The CF Pharmacywww.cfpharmacy.com

Dedicated to research and developmentof new cost-effective pharmacologicalapproaches to care and treatment of CF.


Alex: The Life of a Child by Deford, F.Rutledge Hill Press, 1997

Sportswriter Deford’s story of his coura-geous daughter who died at age 8 dueto complications of cystic fibrosis.

Alive at 25: How IÕm Beating CysticFibrosis by Lipman, A.Longstreet Press, 2002

Candid, honest, inspiring personalaccount. Available used and at libraries.

Cystic Fibrosis: A Guide for Patient and Familyby Orenstein, D.M.Lippincott, Williams and Wilkins, 3rd Edition, 2003

Clear advice on day-to-day management,school, travel, exercise, nutrition, medica-tions, psychological effects, treatment,complications, long-term issues, andprospects for a cure.

CYSTINOSIS

Cystinosis Foundation, Inc.604 Vernon StreetOakland, CA 94610Phone: 800-392-8458Fax: 559-222-7997Email: [email protected]

Cystinosis Research Network10 Pine AvenueBurlington, MA 01803Phone: 866-276-3669 or 781-229-6182Fax: 781-229-6030Email: [email protected]


Cystinosis Centralwww.medicine.ucsd.edu/cystinosis/INDEX.htm

Up-to-date site with general information,links to other resources, physician infor-mation, and research.

DEAFNESS/ HEARING IMPAIRMENT

Alexander Graham Bell Associationfor the Deaf and Hard of Hearing, Inc.3417 Volta Place, NWWashington, DC 20007Phone: 800-432-7543 or 202-337-5220Fax: 202-337-8314Email: [email protected] links to state representatives and web sites.

American Hearing ResearchFoundation8 South Michigan AvenueSuite 814Chicago, IL 60603Phone: 312-726-9670Fax: 312-726-9695Email: [email protected]

National Association of the Deaf8630 Fenton StreetSuite 820Silver Spring, MD 20910-3819Phone: 301-587-1788Fax: 301-587-1791Email: [email protected] email links to current presidents ofeach state affiliate.

Connecticut Association of the Deafhttp://www.deafct.org/

Massachusetts Association of the Deafhttp://www.msad.org/

Rhode Island Association of the Deafhttp://www.riadeaf.org/

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Finding Genes for Non-syndromicDeafnesswww.people.vcu.edu/~nance/index

Provided by Gallaudet University and theMedical college of Virginia, this siteincludes information on: causes of deaf-ness, patterns of inheritance, syndromicdeafness gene mapping and molecularcharacterization of genetic deafness,treatment, and research.


Genetics and Auditory Disorders by Keats, B.J.B., Popper, A.N. and Fay,R.R.Springer-Verlag, 2002

Informs reader about many clinical formsof genetic hearing loss, the mutationsresponsible and the function of proteinsencoded by mutant genes.

Hereditary Hearing Loss and Its Syndromesby Gorlin, R.J., Toriello, H.V. andReardon, W.Oxford University Press, 2nd Edition,2004

Comprehensive and organized resource.

IÕm Deaf and ItÕs Okay by Aseltine, L., Mueller, E. and Tait, M.Albert Whitman & Company, 1986

For children ages 4-8.

My Sense of Silence: Memoirs of aChildhood with Deafnessby Davis, L.J.University of Illinois Press, 2000

Growing up as a hearing child of deafparents, the author has written a candid,affecting, and often funny memoir.

DIABETES

American Diabetes Association1701 North Beauregard StreetAlexandria, VA 22311Phone: 800-DIABETES or 888-DIABETES(for local contact)

Fax: call for faxing informationEmail: [email protected]

Connecticut Chapter:306 Industrial Park Road, Suite 105Middletown, CT 06457Phone: 203-639-0385Fax: 860-632-5098

Maine Chapter:163 Lancaster Street, Suite 98RPortland, ME 04101Phone: 207-774-7717Fax: 207-774-7714

Massachusetts Chapter:330 Congress Street, 5th FloorBoston, MA 02210Phone: 617-482-4580Fax: 617-482-1824

New Hampshire Chapter:249 Canal StreetManchester, NH 03101Phone: 603-627-9579Fax: 603-669-1477

Rhode Island Chapter:222 Richmond St., Suite 204Providence, RI 02903Phone: 401-351-0498Fax: 401-351-1674

Vermont Chapter:1 Kennedy Drive, Suite L8South Burlington, VT 05403Phone: 802-654-7716Fax: 802-658-9145

Juvenile Diabetes Research Foundation120 Wall Street, 19th floorNew York, NY 10005Phone: 800-533-2873Fax: 212-785-9595Email: [email protected]

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Connecticut Chapters: North Central Connecticut and Western Massachusetts Chapter18 North Main Street3rd floorWest Hartford, CT 06107Phone: 860-561-1153Fax: 860-561-3440Email: [email protected]/CT/North-Central-CT-Western-MA

Fairfield County Chapter200 Connecticut Avenue, Suite 5HNorwalk, CT 06854Phone: 203-854-0658Fax: 203-854-0798Email: [email protected]/chapters/ct/fairfield-county

Greater New Haven Chapter2969 Whitney AvenueHamden, CT 06518Phone: 203-248-1880Fax: 203-248-1820Email: [email protected]/chapters/ct/Greater-New-Haven

New England/Maine Chapter:33 Silver St.Portland, ME 04101 Phone: 207-761-0133Fax: 207-761-1687Email: [email protected] www.jdrf.org/maine

New England/New Hampshire Chapter:2 Wellman Ave., Suite 340Nashua, NH 03064 Phone: 603-595-2595Email: [email protected] www.jdrf.org/newhampshire

New England/Rhode Island Chapter:2374 Post Road, Suite 203Warwick, RI 02886 Phone: 401-738-9898Fax: 401-738-7162Email: [email protected] www.jdrf.org/rhodeisland


Children with Diabeteswww.childrenwithdiabetes.com

An online community for kids, familiesand adults with diabetes.

Joslin Diabetes Centerwww.joslin.org

A Harvard Medical School affiliate andinternationally recognized treatment,research, and education institution headquartered in Boston, Massachusetts.

American Association of DiabetesEducatorswww.aadenet.org

A multidisciplinary professional member-ship organization dedicated to advancingthe practice of diabetes self-management,training, and care.


American Diabetes AssociationComplete Guide to Diabetes by the American Diabetes Association,McGraw-Hill/ContemporaryDistributed Products, 3rd Edition,2002

A one volume comprehensive home reference on the best self-care techniques,latest medical breakthroughs, and all theinformation needed to live an active,healthy life with diabetes.

Diabetes for Dummies by Rubin, A.L.For Dummies, 2nd edition,2004

Addresses Type 1 and Type 2 diabetes, including: causes, symptoms, treatment,importance of diet and exercise, findingthe right practitioner, building a supportteam, and finding help online.

Living with Juvenile Diabetes: APractical Guide for Parents andCaregivers by Puerrung, V.Hatherleigh Press, 2001

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Written by a mother of two children withdiabetes, this book provides informationabout exercise and nutrition, recipes, supplies, research trends, and more.

DOWN SYNDROME

National Down Syndrome Congress1370 Center DriveSuite 102Atlanta, GA 30338Phone: 800-232-6372 or 770-604-9500Fax: 212-979-2873 or 770-604-9898Email: [email protected]

Connecticut Chapter:Connecticut Down Syndrome Congress263 Farmington AvenueMC-6222Farmington, CT 06030Phone: 888-486-8537 Email: [email protected]

Maine Affiliate (serving all of Maine):Sourthern Maine Down Syndrome FamilyNetworkP.O. Box 705Windham, ME 04062Phone: 866-571-2223Fax: 866-571-2223Email: [email protected]

Massachusetts Down Syndrome CongressP.O. Box 866 Melrose, MA 02176Phone: 800-664-6372Email: [email protected]

New Hampshire Chapter:Northern New England Down SyndromeCongressP.O. Box 1234Concord, NH 03302Phone: 603-622-6904www.nnedsc.org

Rhode Island Chapter:Down Syndrome Congress of RhodeIsland99 Bald Hill RoadCranston, RI 02920Phone: 401-463-5751www.dssri.org

National Down Syndrome Society666 BroadwaySuite 810New York, NY 10012Phone: 800-221-4602 or 212-460-9330Fax: 212-979-2873Email: [email protected] resources listed by state.

Association for Children with DownSyndrome4 Fern PlacePlainview, NY 11803Phone: 516-933-4700Fax: 516-933-9524Email: [email protected]


Growth Charts for Children withDown Syndromewww.growthcharts.com

This web site includes a brief history ofthe genetic basis of Down syndrome andgrowth charts for children with andwithout Down syndrome.

Scientists have been able tostudy the DNA of 30-million-year-old termites and a

Neanderthal.

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Down Syndrome: Health Issueswww.ds-health.com

News and information for parents and professionals, provided by a pediatrician who is the father of a child with Down syndrome.

www.ds-health.com/ds_sites.htm

Includes a list of useful links to a wealthof resources about Down syndrome.Compiled by a physician.


Babies with Down Syndrome: a NewParentÕs Guide by Stray-Gundersen, K.Woodbine House, 2nd Edition, 1995

A book designed to answer most questions new parents have.

A ParentÕs Guide to Down Syndrome:Toward a Brighter Future by Pueschel, S.M.Paul H. Brooks Publishing Co., 2nd Edition, 2000

Reference book written by a physicianparent of a child with Down syndrome.

Keys to Parenting a Child with Down Syndromeby Brill, M.T.Barron’s Educational Series, 1993

Front cover: The child with Down syndromevery often can be raised to become inde-pendent. This book offers parents andguardians sound advice on managinghealthcare, dealing with siblings, copingwith finances, and choosing education,recreation, adult living, and employmentoptions. Available used and in libraries.

Teaching the Infant with DownSyndrome: A Guide for Parents andProfessionalsby Hanson, M.J.Pro-Ed, 2nd Edition, 1996

A comprehensive curriculum for childrenwith Down syndrome from birth to 24months. Includes helpful advice.

Expecting Adam: A True Story ofBirth, Rebirth, and Everyday Magic by Beck, M.Crown, 1999

Autobiographical tale of an academicallyoriented Harvard couple who discover pre-natally that their baby has Down syndrome.

Choosing Naia: A FamilyÕs Journey by Zuckoff, M.Beacon Press, 2003

Follows the story of a couple strugglingwith grief and confusion and the decisionsthey face when faed with by abnormalprenatal test results.

Understanding Down Syndrome: AnIntroduction for Parents by Cunningham, C.Brookline Books, 1996

An excellent overview for new parentsand professionals.

DYSTONIA

Dystonia Medical Research Foundation1 East Wacker DriveSuite 2430Chicago, IL 60601Phone: 800-377-3978 or 312-755-0198Fax: 312-803-0138Email: [email protected]

Connecticut Chapters:Central Connecticut Support GroupContact Larry Stahl11 Hammick RoadWest Hartford, CT 06107Phone: 860-565-2564Fax: 860-565-1629Email: [email protected]

Stratford Support GroupContact Barbara BenowitzPhone: 203-386-1982

Massachusetts Chapter:Lahey Clinic Support GroupContact: Ann LebrunPhonel: 978-688-2789Email: [email protected]

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New Hampshire Chapter:New Hampshire Support GroupDiane DinsmoorPhone: 603-524-7861Email: [email protected]

Vermont Chapter:Vermont Support GroupMarcia KenworthyPhone: 802-223-2526Email: [email protected]


International Dystonia On-lineSupport Groupwww.dystonia-support.org

Created by affected individuals,this siteincludes medical information, personalaccounts, chat rooms, information forparents, and a children’s email club.


Holding the Hope: a ParentÕs Guide to Living with Dystonia by Ross, K.K.The Dystonia Foundation, 1996

A guide book for families coping withdystonia. Addresses the impact a child’schronic condition may have on the entire family.

The Official PatientÕs Sourcebook onDystonia Disorders: A Revised andUpdated Directory for the Internet Ageby Icon Health PublicationsIcon Health, 2002

Created for patients doing their owneducation and research. A referencebook organized into 3 main parts:research techniques to find general infor-mation, research techniques for specific topics in dystonia, and a guide tothe latest scientific research.

EHLERS- DANLOS SYNDROME

Ehlers-Danlos National Foundation3200 Wilshire BoulevardSuite 1601, South TowerLos Angeles, CA 90010

Phone: 213-368-3800Fax: 213-427-0057Email: [email protected]

Local support group information isaccessible through web site.

EDS TodayP.O. Box 88814Seattle, WA 98138Phone: 253-835-1735Fax: 253-835-1735Email: [email protected]


Ehlers-Danlos Syndromewww.orthop.washington.edu/arthri-tis/types/ehlersdanlos/01

Web site of the University of WashingtonOrthopedics and Sports Medicine Group,with information about incidence, riskfactors, causes, symptoms, diagnosis,management, treatment, and copingwith Ehlers-Danlos syndrome.

EPILEPSY

Epilepsy Foundation of America4351 Garden City DriveLandover, MD 20785Phone: 800-332-1000 or 301-459-3700Fax: 301-577-2684Email: [email protected]

Connecticut Affiliate:Epilepsy Foundation CT, Inc.386 Main StreetMiddletown, CT 06457Phone: 800-899-3745 or 860-346-1924Fax: 860-346-1928Email: [email protected]/connecticut

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Massachusetts and Rhode Island Affiliate:Epilepsy Foundation Massachusetts &Rhode Island 540 Gallivan Boulevard, 2nd FloorBoston, MA 02124-5401Phone: 888-576-9996 or 617-506-6041www.epilepsyfoundation.org/massri/

Vermont Affiliate:Epilepsy Foundation VermontPO Box 6292Rutland, VT 05702-6292Phone: 800-565-0972 or 802-775-1686www.epilepsyvt.org


American Epilepsy Societywww.aesnet.org

Neurological professional organizationseeking to promote interdisciplinarycommunication, scientific investigationand exchange of clinical information.

Epilepsy.comwww.epilepsy.com

Information on diagnosis, treatment, living with epilepsy, news and otherresources.


Growing Up with Epilepsy: A Practical Guide For Parentsby Blackburn, L.B.Demos Medical Publishing, 2003

Provides advice on discipline, socialdevelopment, education, medicationsand side effects, psychological concerns,and other issues.

Handbook of Epilepsy by Brown, T.R. and Holmes, G.L.Lippincott, Williams and Wilkins, 3rd Edition, 2003

Pocket-sized reference book containsconcise up-to-date, clinically orientedinformation on diagnosis and treatment.Includes guidelines and classification ofepilepsy syndromes from the American

Academy of Neurology and the AmericanEpilepsy Society.

FAMILIAL DYSAUTONOMIA

Dysautonomia Foundation, Inc.315 West 39th StreetSuite 701New York, NY 10018Phone: 212-279-1066Fax: 212-279-2066Email: [email protected]

National Dysautonomia ResearchFoundationP.O.Box 301Red Wing, MN 55066Phone: 651-267-0525Fax: 651-267-0524Email: [email protected]


Center for Jewish DiseasesMt. Sinai School of Medicinewww.mssm.edu/jewish_genetics

Follow links to familial dysautonomia.Includes disease description, natural history, genetics and testing information.

2003 marked the 50thanniversary of the

discovery of the structure ofDNA.

37

FANCONI ANEMIA

Fanconi Anemia Research Fund, Inc.1801 Willamette StreetSuite 200Eugene, OR 97401Phone: 541-687-4658Fax: 541-687-0548Email: [email protected]


Fanconi Anemia Mutation Databasewww.rockefeller.edu/fanconi/mutate/

Established as a cooperative effort toaccelerate the availability of information.Divided into a public section listing muta-tions that have already been reported inthe literature, and a private section withunpublished data.

FA: Hemotology 101www.dceg.cancer.gov/clinicalhema-tology101.html

Powerpoint slide show on FanconiAnemia by Dr. Blanche Alter of theNational Cancer Institute.


Molecular Mechanisms of Fanconi Anemia by Ahmad, S.Eurekan.com Inc., 2004

Medical textbook.

FATTY ACID OXIDATION DISORDERS

FOD Family Support Group1559 New Garden Road, 2EGreensboro, NC 27410Phone: 336-547-8682Fax: call for faxing informationEmail: [email protected]

FIBRODYSPLASIA OSSIFICANSPROGRESSIVA

International FOP AssociationP.O. Box 196217Winter Springs, FL 32719Phone: 407-365-4194Fax: 407-365-3213Email: [email protected]

FRAGILE X SYNDROME

National Fragile X FoundationP.O. Box 190488San Francisco, CA 94119Phone: 800-688-8765 or 925-938-9300Fax: 925-938-9315Email: [email protected]

Connecticut Affiliate:Fragile X Society of ConnecticutContact: Tammy SelingerPhone: 860-233-1904Email: [email protected]

Maine Affiliate:Maine Fragile X Resource GroupCheryl PetersonHome Phone: 207-224-2035Julie GosselinHome Phone: 207-657-2395Email: [email protected] www.fragilex.org/html/maine.htm

Massachusetts Affiliates:Fragile X Resource Group of WesternMassachusetts Denise DevinePhone: 413-584-1859Email: [email protected]

FraX'em (FX Resource Group of E. MA)Contact: Sandra Morse Phone: 978-927-3669Email: [email protected]://communities.msn.com/TheWorldofFragileX

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New Hampshire Affiliate:New Hampshire Fragile X Resource GroupContact: Debbie WhitePhone: 603-329-4632Email: [email protected]/html/new_hampshire.htm

Rhode Island Affiliate:Rhode Island Fragile X Resource Group Contact: Robert & Anne McInerneyPhone: 401-467-5135Fax: 401-467-5135Email: [email protected]

FRAXA Research Foundation, Inc.45 Pleasant StreetNewburyport, MA 01950Phone: 978-462-1866Fax: 978-463-9985Email: [email protected]


Children with Fragile X Syndrome: A ParentsÕ Guide by Weber, J.D.Woodbine House, 2000

A comprehensive book for parents. Topicsinclude diagnosis, parents’ emotions,daily care, family life, education, andseeking further help and expertise.

Fragile X Syndrome: Diagnosis, Treatment, and Research by Hagerman, R.J. and Hagerman, P.J.Johns Hopkins University Press, 3rd edition, 2002

Textbook discusses clinical approaches to diagnosis, epidemiology, moleculargenetics, neuropsychology, treatment,genetic counseling, pharmacotherapy,and gene therapy.

GALACTOSEMIA

Parents of Galactosemic Children, Inc. 1519 Magnolia Bluff DriveGautier, MS 39553Phone: 775-626-0885Email: [email protected]


Galactosemia Resources andInformationwww.galactosemia.com

Includes general information on galac-tosemia, galactose content in foods, andcontact information for other affectedfamilies.

GAUCHER DISEASE

National Gaucher Foundation, Inc.61 General Early DriveHarpers Ferry, WV 25425Phone: 800-925-8885Fax: 304-725-6429Email: [email protected]

ChildrenÕs Gaucher Research FundP.O. Box 2123Granite Bay, CA 95746Phone: 916-797-3700Fax: 916-797-3707Email: [email protected]

OTHER WEB RESOURCES:

Gaucher Disease Summarywww.gaucher.mgh.harvard.edu/summary.html

A guide for patients, parents, relatives,and friends provided by the NeurologyService at Massachusetts General Hospital.Includes links to diagnosis, evaluationand treatment summaries, a section onliving with Gaucher disease, and questionsand answers about therapies.

39


Follow links to Gaucher disease. Includes disease description, natural history,genetics and testing information.


The Official ParentÕs Sourcebook onGaucherÕs Disease: A Revised andUpdated Directory for the InternetAge by Parker, P.M. and Parker, J.N. (eds.)Icon Health, 2002

Informs parents about where and how tolook for information. Also useful fordoctors, caregivers, and other health professionals.

GLYCOGEN STORAGE DISEASES

Association for Glycogen StorageDiseaseP.O. Box 896Durant, IA 52747Phone: 563-785-6038Fax: 563-785-6038Email: [email protected]

The ChildrenÕs Fund for GlycogenStorage Disease Research917 Bethany Mountain RoadCheshire, CT 06416Phone: 203-272-CURE or 203-272-7744Email: [email protected]

American Liver Foundation75 Maiden LaneSuite 603New York, NY 10038Phone: 800-465-4837 or 212-688-1000Fax: 212-483-8179Email: [email protected]

Connecticut Chapter:127 Washington AvenueNorth Haven, CT 06473Phone: 203-234-2022

Fax: 203-234-1386Email: [email protected]

New England Chapter:88 Winchester StreetNewton, MA 02461Phone: 800-298-6766 or 617-527-5600Email: [email protected]

GROWTH DISORDERS

Human Growth Foundation997 Glen Cove AvenueGlen Head, NY 11545Phone: 800-451-6434 or 516-671-4041Fax: 516-671-4055Email: [email protected]

MAGIC Foundation for ChildrenÕsGrowth6645 West North AvenueOak Park, IL 60302Phone: 800-362-4432 or 708-383-0808Fax: 708-383-0899Email: [email protected]

HEART DISORDERS

American Heart Association7272 Greenville Avenue Dallas, TX 75231Phone: 800-242-8721 or 214-373-6300Fax: 214-373-0268Email: [email protected]

Connecticut Chapter:5 Brookside DriveP.O. Box 5022Wallingford, CT 06492Phone: 203-294-0088Fax: 203-294-3577

Maine Chapter:51 US Route 1Suite MScarborough, ME 04074Phone: 207-879-5700Fax: 207-879-5918

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Massachusetts Chapters:20 Speen StreetFramingham, MA 01701Phone: 508-620-1700Fax: 508-620-6157

1111 Elm Street, Suite 9AWest Springfield, MA 01089Phone: 413-827-0400Fax: 413-827-9390

2 White's PathSouth Yarmouth, MA 02664Phone: 508-760-6818Fax: 508-760-6824

New Hampshire Chapter:2 Wall StreetManchester, NH 03101Phone: 603-669-5833Fax: 603-669-6745

Rhode Island Chapter:222 Richmond Street, Suite 108Providence, RI 02903Phone: 401-330-1700Fax: 401-330-1720

Vermont Chapter:434 Hurricane LaneWilliston, VT 05495Phone: 802-878-7700Fax: 802-878-7850

Congenital Heart Anomalies Support, Education, and Research2112 North Wilkins RoadSwanton, OH 43558Phone: 419-825-5575Fax: 419-825-2880Email: [email protected]/~hcmth011/chaser/chaser-news.html

Mended Hearts Inc.7272 Greenville AvenueDallas, TX 75231Phone: 888-432-7899 or 214-360-6149Fax: 214-360-6145Email: [email protected]

ChildrenÕs Heart InformationNetwork1561 Clark DriveYardley, PA 19067Phone: 215-493-3068Fax: 215-493-3068Email: [email protected]

Little Hearts, Inc.P.O. Box 171Cromwell, CT 06416Phone: 860-635-0006 or 866-435-4673Fax: 860-635-0006Email: [email protected]


Texas Heart Institutewww.texasheartinstitute.org

Information about the heart institute at St.Luke’s Episcopal Hospital in Houston, Texas.

Congenital Heart Disease Centerwww.heartcenteronline.com

Provides patient guides on many congen-ital heart anomalies, includes animatedvideos showing how the heart works.


Cardiac Kids: A Book for FamiliesWho have a Child with Heart Disease by Elder, V. and King, A.Tenderhearts Publishing Company,1994

For parents and children to read together,this book explains many of the medicaltests a child will experience after beingdiagnosed with heart disease. It alsotouches on some of the stress siblingsmay feel.

Heart Defects in Children: What Every Parent Should Know by Wild, C.J.Wiley, 1998

A resource that succinctly addresses and provides answers for these complex disorders. Also explains infections, tests,treatments, and risk factors.

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The Heart of a Child: What FamiliesNeed to Know about Heart Disordersin Children by Clark, E.B., Clark, C. and Neill, C.A.Johns Hopkins University Press, 2nd Edition, 2001

Written by two professors in pediatriccardiology, along with pediatric nurse.The authors have included how the heartdevelops in a child and show what cango wrong during the growing process.They also discuss the risk factors for heartdefects, explain how heart problems arerecognized, and cover treatment options.

The ParentÕs Guide to ChildrenÕsCongenital Heart Defects: What theyAre, How to Treat Them, How toCope with Themby Kramer, G.F. and Maurer, S.Three Rivers Press, 2001

Designed for parents whose child hasbeen recently diagnosed with a congeni-tal heart defect (CHD). The authorsknowledgeably discuss both the medicaland the emotional issues to be addressed,from diagnosis through surgery (if needed)to recovery on to adulthood. Includes anillustrated overview of 16 of the mostcommon defects.

Fetal Echocardiography by Drose, J.A.W. B. Saunders Company, 1998

An essential reference for anyoneinvolved in fetal echocardiography.

HEMOCHROMATOSIS

American Hemochromatosis Society4044 West Lake Mary BoulevardSuite 104, PMB 416Lake Mary, FL 32746Phone: 888-655-4766 or 407-829-4488Fax: 407-333-1284Email: [email protected]

American Liver Foundation75 Maiden LaneSuite 603New York, NY 10038

Phone: 800-465-4837 or 212-688-1000Fax: 212-483-8179Email: [email protected]

Connecticut Chapter:127 Washington AvenueNorth Haven, CT 06473Phone: 203-234-6304Fax: 203-234-1386Email: [email protected]

New England Chapter:88 Winchester StreetNewton, MA 02461Phone: 800-298-6766 or 617-527-5600Email: [email protected]


Hemochromatosis Information Societywww.hemoinfo.org

Information on the condition, itstreatment, getting an at-home test kit,and links for further information.


Living with Hemochromatosis by Everson, G. and Weinberg, H.Hatherleigh Press, 2003

Patient guide covers signs, symptoms,diagnosis, treatment options, and newareas of research, as well as physical,emotional, nutritional and financial issues.

12,000 letters of DNAwere decoded by the Human

Genome Project everysecond.

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The Iron Disorders Institute Guide toHemochromatosis by Garrison, C.D., Phatak, D.D., Weinber, E.D., and Burke, W.Cumberland House Publishing, 2001

Valuable information on diagnosis, treat-ment, lifestyle, nutrition and genetics.

The Official PatientÕs Sourcebook onHemochromatosis by Parker, J.N. and Parker, P.M.Icon Health, 2002

Informs patients, caregivers and healthprofessionals about looking for informa-tion on hemochromatosis.

HEMOPHILIA

National Hemophilia Foundation116 West 32nd Street, 11th floorNew York, NY 10001Phone: 800-424-2634 or 212-328-3700Fax: 212-328-3777Email: [email protected]

New England Hemophilia Foundation347 Washington Street, Suite 402Dedham, MA 02026Phone: 781-326-7645Fax: 781-329-5122Email: [email protected]


BloodLinewww.bloodline.net

Resource for hematology education & news.

HUNTINGTONÕS DISEASE

Huntington s Disease Society of America505 Eighth Avenue, Suite 902New York, NY 10018Phone: 800-345-4372 or 212-242-1968Fax: 212-239-3430Email: [email protected]

New England Chapter:1253 Worchester Road

Suite 202Framingham, MA 01701Phone: 888-872-8102 or 508-872-8102Fax: 508-872-8103Email: [email protected]

Hereditary Disease Foundation(focuses on HuntingtonÕs Disease)1303 Pico BoulevardSanta Monica, CA 90405Phone: 310-450-9913Fax: 310-450-9532Email: [email protected]


The Huntington s Disease AssociationOnline www.hda.org.uk

Offers news and information aboutHuntington’s disease for people affected,their families, friends, and health careprofessionals.

Huntington s Disease Advocacy Centerwww.hdac.org

Chat rooms, research updates, and infor-mation on living with Huntington’s dis-ease, managing symptoms, caregiving,finances, and nursing homes.


Huntington s Disease: The Facts by Quarrell, O.Oxford University Press, 1999

Pocket guide that offers practical advice, discusses medical facts, genetic aspectsand counseling, neuropathology, andsupport organizations.

Faces of HuntingtonÕs by Leal-Pock, C.Living Hope Inc., 1998

A unique collection of writings whichilluminates the many facets ofHuntington’s Disease.

43

Mapping Fate: A Memoir of Family,Risk, and Genetic Research by Wexler, A.University of California Press, 1996

Personal account of a family dealing withHuntington’s Disease.

HYDROCEPHALUS

National Hydrocephalus Foundation12413 Centralia RoadLakewood, CA 90715Phone: 888-857-3434 or 562-402-3523Fax: 562-924-6666Email: [email protected]

Hydrocephalus Association870 Market Street, Suite 705San Francisco, CA 94102Phone: 888-598-3789 or 415-732-7040Fax: 415-732-7044Email: [email protected]

Guardians of Hydrocephalus ResearchFoundation2618 Avenue ZBrooklyn, NY 11235Phone: 718-743-4473Fax: 718-743-1171Email: [email protected]/ghrf.html

Hydrocephalus Foundation910 Rear Broadway, Route 1Saugus, MA 01906Phone: 781-942-1161Email: [email protected]


The Hydrocephalus Centerwww.patientcenters.com/hydrocephalus

Comprehensive site with links to resourcesfor families with children with hydrocephalus.

NIH Hydrocephalus linkswww.nlm.nih.gov/medlineplus/hydrocephalus.html

Listing of resources on hydrocephaluscompiled by the U.S. National LIbrary ofMedicine and the National Institutes ofHealth.


Hydrocephalus: A Guide for Patients,Families and Friends by Toporek, C. Robinson, K. andLamb, L.Patient Center Guide, Inc., 1999

Addresses: selecting a skilled neurosur-geon, treatments, and support.

Pediatric Hydrocephalus by Cinalli, G., Maixner, W.J. and Sainte-Rose, C. Springer-Verlag, 2006

Medical reference text for health careprofessionals including classification, etiology, pathophysiology, genetics, andrecent advances.

JEWISH GENETIC DISEASES

Jewish Genetic Disease Consortium315 West 39th Street, Suite 701New York, NY 10018Phone: 866-370-4363Email: [email protected]

The Jewish Genetic Disease Consortiumwas created as a means by which smaller,individual organizations could join togetherto heighten awareness of Jewish geneticdiseases. The target audience includesmedical professionals, rabbis, and theAshkenazi Jewish population at large.

KLINEFELTER SYNDROME

American Association for KlinefelterSyndrome Information and Support2945 West Farwell AvenueChicago, IL 60645Phone: 888-466-5747 or 773-761-5298Fax: 773-761-5298Email: [email protected]

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Northeast/Boston area Regional SupportGroup:Co-chairs of the Support GroupDalene BasdenPhone: 781-599-9288Email: [email protected]

Bill MulkernPhone: 617-742-4247

Klinefelter Syndrome and Associates11 Keats CourtCoto De Caza, CA 92679Phone: 888-999-9428 Fax: 949-858-3443Email: [email protected]


Klinefelter Syndrome Support GroupHome Pagewww.klinefeltersyndrome.org

Includes links to prenatal diagnosis information, support group information,research studies, medical conferences,and other useful web sites.


KlinefelterÕs Syndrome: A MedicalDictionary, Bibliography, andAnnotated Research Guide toInternet Referencesby Icon Health PublicationsIcon Health, 2004

Complete medical dictionary, lists of bibliographic citations, and informationon Internet resources. Designed forphysicians, medical students, medicalresearchers, and patients.

KLIPPEL- TRENAUNAY- WEBER

Klippel-Trenaunay Support Group5404 Dundee RoadEdina, MN 55436Phone: 952-925-2596Fax: 612-677-1338Email: [email protected]

LESCH- NYHAN SYNDROME

Lesch-Nyhan Syndrome RegistryNew York University School of MedicineDepartment of PsychiatryNew Bellevue 18 18E13Bellevue HospitalNew York, NY 10016Phone: 212-263-6458Fax: 212-629-9523Email: [email protected]

Lesch-Nyhan Syndrome ChildrenÕs Research Foundation210 South Green Bay RoadLake Forest, IL 60045Phone: 847-234-3154Fax: 847-234-3136


National Institute of NeurologicalDisorders and Stro ke; Lesch-NyhanSyndrome Information Pagewww.ninds.nih.gov/disorders/lesch_nyhan/lesch_nyhan.htm

Includes a description of Lesch-Nyhansyndrome, treatment options, prognosisand information on research.

LEUKODYSTROPHY

United Leukodystrophy Foundation2304 Highland DriveSycamore, IL 60178Phone: 800-728-5483 or 815-895-3211Fax: 815-895-2432Email: [email protected]

Scientists estimate that humanshave only 1/3 moregenes than the simple

roundworm!

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21st Century Complete Medical Guideto Leukodystrophies: AuthoritativeGovernment Documents, ClinicalReferences, and Practical Informationfor Patients and Physicians by PM Medical Health NewsProgressive Management, 2004

Electronic, thoroughly-researched collection on CD-ROM. For patients, practical information is provided in clearly written educational documents. For medical professionals, reference tools and textshave detailed technical information.

LUPUS

American Autoimmune RelatedDiseases Association, Inc.22100 Gratiot AvenueEast Detroit, MI 48021Phone: 586-776-3900Fax: 586-776-3903Email: [email protected]

SLE Foundation, Inc.149 Madison AvenueSuite 205New York, NY 10016Phone: 212-685-4118Fax: 212-545-1843Email: [email protected]

Lupus Foundation of America, Inc.2000 L Street, NWWashington, DC 20036Phone: 800-558-0121 or 202-349-1155Fax: 202-349-1156Email: [email protected]

Connecticut and Rhode Island Chapter:97 South StreetSuite 110West Hartford, CT 06110Phone: 800-699-6967 or 860-953-0387 Fax: 860-953-0483Email: [email protected]

New Hampshire and Vermont Chapter:Waterbury, VTPhone: 802-244-5988


Lupus Suite 101www.suite101.com/welcome.cfm/lupus

Written by a nurse who is also a lupus patient.Provides information, support and help.

The Lupus Sitewww.uklupus.co.uk

Information on lupus including symptoms,diagnosis, tests, medications, and email list.


Coping with Lupus: A Guide to LivingWith Lupus for You and Your Familyby Phillips, R.H.Avery Publishing Group, 3rd Edition, 2001

Includes new research, treatments, andinformation.

The Lupus Handbook for Womenby Dibner, R.Fireside, 1994

“Must-read” book of common sense adviceand tips for daily living, as well as an entirechapter on pregnancy.

MARFAN SYNDROME

National Marfan Foundation22 Manhassett AvenuePort Washington, NY 11050Phone: 800-862-7326 or 516-883-8712Fax: 516-883-8040Email: [email protected] [email protected]

Connecticut Contact:Richard Paul Phone: 203-268-7559 Email: [email protected]

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Maine Contact:Merrill Henderson Phone: 207-839-8637Email: [email protected] Contacts:Suzanne Kouri (Lexington)Phone: 781-862-6398 or 781-248-8743(Cell)Email: [email protected] La Pan Phone: 413-739-2950

Rhode Island Contact:Adrienne Shafer Phone: 401-658-1719 Email: [email protected]


National Institute of Arthritis andMusculoskeletal and Skin diseaseswww.niams.nih.gov/hi/topics/marfan/marfan.htm

Answers general questions about Marfan syndrome. It describes the characteristicsof the disorder, the diagnostic process,and ways to manage symptoms.


Connective Tissue and Its HeritableDisorders: Molecular, Genetic andMedical Aspects by Royce, P.M. and Steinmann, B.Wiley-Liss, 2nd Edition, 2002

Reference text which provides up to date clinical and scientific information formedical specialists treating affected individuals.

MENTAL RETARDATION

The ARC (formerly known as TheAssociation for Retarded Citizens)1010 Wayne AvenueSilver Spring, MD 20910Phone: 800-433-5255 or 301-565-3842Fax: 301-565-5342Email: [email protected]

Connecticut chapters:Sarah Seneca Residential Services11 Business Park Drive, Suite 1Branford, CT 06405Phone: 203-315-3770Email: [email protected]

Farmington Valley ARC, Inc.225 Commerce DriveP.O. Box 1099Canton, CT 06019Phone: 860-693-6662Email: [email protected]

Tri-County ARC, CT65 Route 66 EastColumbia, CT 06237Phone: 860-228-2070 X103

WeCAHR211 Main StreetDanbury, CT 06810Phone: 203-792-3540www.wecahr.org

The ARC of Quinebaug Valley687 Cook Hill RoadDanielson, CT 06239Phone: 860-774-2827

The ARC of Greater Enfield75 Hazard AvenueUnit EEnfield, CT 06082Phone: 860-763-5411

SARAH, Inc.246 Goose Lane, Suite 101Guilford, CT 06437Phone: 203-458-4040www.sarah-inc.org

Sarah Tuxis Residential Services, Inc.45 Boston StreetGuilford, CT 06437Phone: 203-458-8532Email: [email protected]

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MARC, Inc. of Manchester376R West Middle TurnpikeManchester, CT 06040Phone: 860-646-5718Email: [email protected]

The ARC of Meriden-Wallingford, Inc.224-226 Cook AvenueMeriden, CT 06451Phone: 203-237-9975Email: [email protected]

Directions, Inc.62 Washington StreetMiddletown, CT 06457Phone: 860-347-5099Email: [email protected]

Options Unlimited, Inc.584 West Hill RoadNew Hartford, CT 06057Phone: 860-738-1410Email: [email protected]

Friends of New Milford, Inc.238 Chesnutland RoadNew Milford, CT 06776Phone: 860-355-5343

STAR, Inc., Lighting the WayP.O. Box 470Norwalk, CT 06851Phone: 203-846-9581www.starinc-lightingtheway.org

ARC of New London County 125 Sachem StreetNorwich, CT 06360Phone: 860-889-4435Email: [email protected]

The ARC of Plainville367 New Britain AvenuePlainville, CT 06062Phone: 860-747-1560

The ARC of Southington, Inc.201 West Main StreetPlantsville, CT 06479Phone: 860-628-9220Email: [email protected]

Marc Community Resources, Ltd.12 Fairview StreetP.O. Box 126Portland, CT 06480Phone: 860-342-0700Email: [email protected]

Litchfield County ARC314 Main StreetTorrington, CT 06790Phone: 860-482-9364Email: [email protected]

Waterbury ARC1929 East Main StreetWaterbury, CT 06705Phone: 203-575-0707Email: [email protected]

Family Options51 Depot RoadWatertown, CT 06795Phone: 860-274-0757

The ARC of Connecticut1030 New Britain AvenueSuite 102West Hartford, CT 06110Phone: 860-953-8335Email: [email protected]

Maine Chapters:(listed alphabetically by town)

DEH Operating Co.d/b/a Downeast Horizons1200 State Highway 3Bar Harbor, ME 04609Phone: 207-288-4234Email: [email protected]

Independence AssociationP.O. Box 642Brunswick, ME 04011Phone: 207-725-4371Email: [email protected]

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Work First, Inc.P.O. Box 86Farmington, ME 04938Phone: 207-778-3200Community Living Association45 School StreetHoulton, ME 04730Phone: 207-532-9446www.cla-maine.org/

Green Valley ArcPO Box 127Island Falls, ME 04747Phone: 207-463-2156

Katahdin Friends Inc.1024 Central Street, Suite AMillinocket, ME 04462-2111Phone: 207-723-9466www.kfimaine.org

Central Aroostook Arc26 Lombart StreetP.O. Box 1245Presque Isle, ME 04769Phone: 207-764-0134

Arc - Oxford County85 Lincoln AvenueRumford, ME 04276Phone: 207-369-0141

Arc - Waban Projects, Inc.5 Dunaway DriveSanford, ME 04073Phone: 207-324-7955

Sebasticook Farms ArcP.O. Box 65St Albans, ME 04971Phone: 207-938-4615

Arc - Northern Aroostook267 Main StreetVan Buren, ME 04785Phone: 207-868-5203Email: [email protected]

Ken-A-Set ArcP.O. Box 334Waterville, ME 04903-0334Phone: 207-872-6484

Massachusetts Chapters (listed alphabetically by town):

The Arc of Northern Bristol County141 Park StreetAttleboro, MA 02703Phone: 508-226-1445Email: [email protected]/

Greater Boston Arc221 North Beacon Street2nd FloorBrighton, MA 02135Phone: 617- 783-3900Email: [email protected]/

Brockton Area Arc1250 West Chestnut StreetBrockton, MA 02301Phone: 508-583-8030Email: [email protected]

Minute Man Arc for Human Services1269 Main StreetConcord, MA 01742Phone: 978-287-7932Email: [email protected]/

North Shore Arc64 Holten StreetDanvers, MA 01923Phone: 978-762-4878www.nsarc.org

The Arc of Greater Fall RiverP.O. Box 1943Fall River, MA 02722Phone: 508-679-0001Email: [email protected]

ARC Community Services564 Main StreetFitchburg, MA 01420Phone: 978-343-6662 Ext 131Email: [email protected]

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The United Arc of Franklin & HampshireCounties111 Summer StreetGreenfield, MA 01301Phone: 413-774-5558

The Arc of Northern Essex County, Inc.57 Wingate Street, Suite 301Haverhill, MA 01832Phone: 978-373-0552Email: [email protected]

The Arc of Cape CodP.O. Box 428Hyannis, MA 02601Phone: 508-790-3667Email: [email protected]

The Arc of Greater LawrenceOne Parker StreetLawrence, MA 01843Phone: 978-975-8587Email: [email protected]/arc_page.htm

Charles River Arc59 East Militia Heights DriveNeedham, MA 02492-1313Phone: 781-444-4347Email: [email protected]/

The Arc of The South Shore371 River StreetNorth Weymouth, MA 02191Phone: 781-335-3023Email: [email protected]

Berkshire County Arc395 South StreetPittsfield, MA 01201Phone: 413-499-4241Email: [email protected]/

The Arc of Greater Plymouth, Inc.Cordage Commerce Center10 Cordage Park Circle, Suite 208Plymouth, MA 02360Phone: 508-732-9292Email: [email protected]

East Middlesex Arc20 Gould StreetReading, MA 01867-2927Phone: 781-942-4888www.theemarc.org/

Southern Worcester County ArcP.O. Box 66100 Foster 1N StreetSouthbridge, MA 01550Phone: 508-764-4085

The Arc of Massachusetts217 South StreetWaltham, MA 02453-2710Phone: 781-891-6270Email: [email protected]

Greater Waltham ARC56 Chestnut StreetWaltham, MA 02453Phone: 781-899-1344Email: [email protected]

Identical twins doNOT have identical

fingerprints.

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South Norfolk County Arc789 Clapboardtree StreetWestwood, MA 02090Phone: 781-762-4001www.sncarc.org/

Central Middlesex Arc147 New Boston StreetWoburn, MA 01801Phone: 781-935-7057

New Hampshire Chapters: (listed alphabetically by town)

Concord Regional Arc, Inc.P.O. Box 1173Concord, NH 03302-1173Phone: 603-228-8279

The Arc of Greater ManchesterP.O. Box 3363Manchester, NH 03105-3363Phone: 603-434-2738Email: [email protected]

Salem Arc, Inc.8 Centerville DriveSalem, NH 03079Phone: 603-893-9889

Rhode Island Chapters:(listed alphabetically by town)

Bristol County Chapter ArcP.O. Box 711Bristol, RI 02809Phone: 401-253-5900

Arc - Down Syndrome Society of RhodeIsland99 Bald Hill RoadCranston, RI 02920Phone: 401-463-5751Email: [email protected]

Cranston Arc, Inc.111 Comstock ParkwayCranston, RI 02921Phone: 401-941-1112www.cranstonarc.org

Rhode Island Arc (RIARC)99 Bald Hill RoadCranston, RI 02920Phone: 401-463-9191Email: [email protected]

Newport County ArcP.O. Box 4390Middletown, RI 02842Phone: 401-846-4600

Greater Providence Arc220 Woonasquatucket AvenueNorth Providence, RI 02911Phone: 401-353-7000www.fogartycenter.org

The Arc of Blackstone Valley115 Manton StreetPawtucket, RI 02861Phone: 401-727-0150Email: [email protected]

The Arc South County Chapter238 Robinson StreetWakefield, RI 02879Phone: 401-789-4386

Kent County Arc3445 Post RoadWarwick, RI 02886Phone: 401-739-2700www.kentcountyarc.org

Westerly - Chariho ChapterFrank A. Olean Center93 Airport RoadWesterly, RI 02891Phone: 401-596-2091

The Arc of Northern Rhode Island320 Main StreetWoonsocket, RI 02895Phone: 401-765-3700Email: [email protected]

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American Association on MentalRetardation444 North Capitol Street NWSuite 846Washington, DC 20001Phone: 800-424-3688 or 202-387-1968Fax: 202-387-2193Email: [email protected] Contact:David B. ScottEmail: [email protected]

Maine Contact:Scott JonesEmail: [email protected]

Massachusetts Contact:Jean M. PhelpsEmail: [email protected]

New Hampshire Contact:Deborah G. LarochelleEmail: [email protected]

Rhode Island Contact:Donna MartinEmail: [email protected]

Vermont Contact:Diane BlaisEmail: [email protected]

MITOCHONDRIAL DISORDERS

United Mitochondrial DiseaseFoundation8085 Saltsburg RoadSuite 201Pittsburgh, PA 15239Phone: 412-793-8077Fax: 412-793-6477Email: [email protected]

New England Chapter of UMDF39 Bay Farm DrivePlymouth, MA 02360Phone: 508-224-7165Email: [email protected]

Mitochondria Research SocietyP.O. Box 1952Buffalo, NY 14221Phone: see web site for individual contacts.Email: [email protected]


Mitochondrial Disease in Perspective:Symptoms, Diagnosis and Hope forthe Futurewww.mitoresearch.org/treatmentdisease.html

Online lecture covering symptoms, diagno-sis, management, research and potentialtreatments.


Mitochondrial Disease: Models andMethodsby Lestienne, P.Springer-Verlag, 1999

Covers molecular aspects of mitochondrial disorders, diagnosis and mutations; discusses role of mitochondria in apoptosisand aging.

MOEBIUS SYNDROME

Moebius Syndrome FoundationP.O. Box 147Pilot Grove, MO 65276Phone: 660-834-3406Fax: 660-834-3407Email: [email protected] [email protected]


Moebius Syndromewww.moebius1.org

Information, resource links and support.

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My Faceby Abbott, M. and Abbott, B.Forward Face, 1998

Children’s book written by the mother of an affected child.

MUCOPOLYSACCHARIDOSIS

National MPS Society, Inc.P. O. Box 736Bangor, ME 04402Phone: 207-947-1445Fax: 207-990-3074Email: [email protected]

MULTIPLE SCLEROSIS

National Multiple Sclerosis Society733 3rd AvenueNew York, NY 10017Phone: 800-344-4867 or 212-986-3240Fax: 212-986-7981Email: [email protected]

Connecticut Chapters:

Greater Connecticut Chapter705 North Mountain RoadNewington, CT 06111Phone: 860-953-0601Email: [email protected]

Western Connecticut Chapter1 Selleck StreetSuite 500Norwalk, CT 06855Phone: 203-838-1033Email: [email protected]

Maine Chapter:170 US Route One, Suite 200Falmouth, ME 04105Phone: 1-800-FIGHT MSEmail: [email protected]

Central New England (Massachusetts andNew Hampshire)101A First Avenue, Suite 6Waltham, MA 02451-1115Phone: 800-493-9255 or 781-890-4990Email:[email protected]

Rhode Island Chapter:205 Hallene Road, Suite 209Warwick, RI 02886Phone: 1-800-FIGHT-MS or 401-738-8383Email: [email protected]/rir

Vermont Chapter:75 Talcott RoadWilliston, VT 05495Phone: 1-800-344-4867 or 802-862-0912Email: [email protected]/vtn

Multiple Sclerosis Association ofAmerica706 Haddonfield RoadCherry Hill, NJ 08002Phone: 800-532-7667Fax: 856-661-9797Email: [email protected]

Rhode Island Contact: Brenda Berube West Warwick, RI Phone: 401-823-0216

Most leading causes of deathhave a genetic component.

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All About Multiple Sclerosiswww.mult-sclerosis.org

Accurate and comprehensive medicaldata about multiple sclerosis written bypeople living with the disease. Includesarchives of stories and personal accounts.ADDITIONAL LITERATURE:

Multiple Sclerosis Q & A: Reassuring Answers to Frequently Asked Questionsby Hill, B.A. and Wojcieszek, J.Avery Publishing Group, 2003

This insightful, informative, and empathicresource discusses traditional and com-plementary therapies, explains medicalterminology and diagnosis, and addresseslifestyle issues.

MUSCULAR DYSTROPHY

Muscular Dystrophy Association3300 East Sunrise DriveTucson, AZ 85718Phone: 800-572-1717 or 520-529-2000Fax: 520-529-5300Email: [email protected]

Connecticut contact:Phone: 860-633-4466

Maine/New Hampshirecontact:Phone: 207-854-3749

Massachusetts contact:Phone: 781-575-1881

Rhode Island contact:Phone: 401-732-1910

Vermont contact (in Albany, NY):Phone: 518-489-5495

Muscular Dystrophy Family Foundation3951 North Meridian Street, Suite 100Indianapolis, IN 46208Phone: 800-544-1213 or 317-923-6333Fax: 317-923-6334Email: [email protected]


Parent Project Muscular Dystrophywww.parentprojectmd.org

Founded by parents of children withDuchenne and Becker muscular dystrophies,this group funds research and disseminatesinformation on research, supports aninternational conference, and provide anewsletter. Site includes links to informa-tion, resources, breaking news, and treat-ments, and addresses emotional issues.


Muscular Dystrophy in Children: AGuide for Familiesby Siegel, I.M.Demos Medical Publishing, 1999

A text for families, including informationon symptoms, medical treatments, psychosocial issues, probable diseasecourse and therapies.

Muscular Dystrophy: The Factsby Emery, A.E.H.Oxford University Press, 2nd Edition,2000

Easy to understand book explains the complexities of muscular dystrophy,including daily life issues.

Moonrise: One Family, GeneticIdentity, and Muscular Dystrophyby Wolfson, P.St. Martin’s Press, 2004

Personal account, written by the motherof a son with Duchenne muscular dystrophy.Explores special education, prenatal diag-nosis, and genetics. Used or in libraries.

NEUROFIBROMATOSIS

The ChildrenÕs Tumor Foundation95 Pine Street, 16th floorNew York, NY 10005Phone: 800-323-7938 or 212-344-6633Fax: 212-747-0004Email: [email protected]

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Northern New England Chapter (servesCT, ME, MA, NH, RI, VT)75 McNeil WaySuite 201Dedham, MA 02026Phone: 888-585-5316 or 508-879-5638Fax: 781-326-4940Email: [email protected], Inc.P.O. Box 18246Minneapolis, MN 55148Phone: 800-942-6825 or 301-918-4600Email: [email protected]

NF Inc. New England9 Bedford StreetBurlington, MA 01803Phone: 781-272-9936Email: [email protected]


Neurofibromatosis Resourceswww.neurosurgery.mgh.harvard.edu/NFR

Listing of neurofibromatosis informationon the web, including general information,genetics, support, news groups, home-pages, and information for children andadolescents.


Living with A Genetic Disorder: TheImpact of Neurofibromatosis Iby Ablon, J.Auburn House, 1999

A chronicle of the life experiences ofadults with Neurofibromatosis I.

Neurofibromatosis Type I: From Genotype to Phenotypeby Upadhyaya, M. and Cooper, D.N.Academic Press, 1998

Medical reference text written for studentsand professionals. Includes: Clinical aspects;gene structure, expression, and mutation;animal models; and disease treatmentand prevention.

NIEMANN- PICK DISEASE

National Niemann-Pick DiseaseFoundation, Inc.P.O. Box 49401 Madison Avenue, Suite BFort Atkinson, WI 53538Phone: 877-287-3672 or 920-563-0930Fax: 920-563-0931Email: [email protected]


International Center for Types A andB Niemann-Pick DiseasesMt. Sinai School of Medicinewww.mssm.edu/niemann-pick/

Includes information on the disease, itsnatural history, genetics.


The Official ParentÕs Sourcebook onNiemann-Pick Disease: A Revisedand Updated Directory for theInternet Ageby Parker, J.N. and Parker, P.M., (eds)Icon Health, 2002

Guide to looking for information online, finding a doctor, and locating the latestresearch.

ORGANIC ACIDEMIAS

Organic Acidemia Association13210 35th Avenue NorthPlymouth, MN 55441Phone: 763-559-1797Fax: 763-694-0017Email: [email protected]

OSTEOGENESIS IMPERFECTA

Osteogenesis Imperfecta Foundation, Inc.804 West Diamond Avenue Suite 210Gaithersburg, MD 20878Phone: 800-981-2663 or 301-947-0083Fax: 301-947-0456Email: [email protected]

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Massachusetts contact:Cheryl & Richard ManducaPhone: 781-545-2521

ChildrenÕs Brittle Bone Foundation7701 95th StreetPleasant Prairie, WI 53158Phone: 866-694-2223Fax: 262-947-0724Email: [email protected]

ADDITONAL WEB RESOURCES:

The Bones Pagewww.geocities.com/dr_plotkin

Basic information & links to other resources.

PARKINSONÕS DISEASE

American Parkinson DiseaseAssociation135 Parkinson AvenueStaten Island, NY 10305Phone: 800-223-2732 or 718-981-8001Fax: 718-981-4399Email: [email protected]

Connecticut Chapter:27 Allendale DriveNorth Haven, CT 06473Phone: 888-400-2732 or 203-789-3936Fax: 203-288-0546Email: [email protected] Connecticut web site for >15 local con-tacts.

Maine Chapter: 17 Blueberry Lane, Cottage 21Falmouth, ME 04105Carl Barker, PresidentPhone: 207-781-3070Email: [email protected]

Massachusetts Chapter:715 Albany Street, C329Boston, MA 02118Keith Ciccone, PresidentPhone: 800-651-8466 or 617-638-8466 Fax: 617-638-5354

Email: [email protected]. Email: [email protected] Massachusetts site for > 15 local contacts.

New Hampshire Chapter: P.O. Box 6212Nashua, NH 03063George McHugh, PresidentPhone: 603-305-0398 or 603-459-8040Email: [email protected]

Rhode Island Chapter: P.O. Box 41659Providence, RI 02940-1659Athol Cochrane, PresidentPhone: 401-823-5700Email: [email protected]

Vermont Chapter: Fletcher Allen Health Care1 South Prospect StreetBurlington, VT 05401Phone: 802-847-3366 or 888-763-3366Email: [email protected] Vermont web site for > 15 local contacts.

ParkinsonÕs Disease Foundation, Inc.1359 Broadway, Suite 1509New York, NY 10018Phone: 800-457-6676 or 212-923-4700Fax: 212-923-4778Email: [email protected]


ParkinsonÕs Informationwww.parkinsonsinfo.com

Information about Parkinson’s disease, adirectory of resources, and frequentlyasked questions.

Michael J. Fox Foundationwww.michaeljfox.org

Dedicated to ensuring the developmentof a cure for Parkinson’s disease withinthis decade.

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300 Tips for Making Life withParkinsonÕs Disease Betterby Schwarz, S.P.Demos Medical Publishing, 2002

Tips, techniques, and shortcuts learnedfrom personal experience, arranged incategories of daily activities. Availableused and in libraries.

ParkinsonÕs Disease: A Guide forPatient and Familyby Duvoisin, R.C. and Sage, J.Lippincott, Williams & Wilkins, 5thEdition, 2001

In depth information on diagnosis, med-ications, management, and genetics.

PHENYLKETONURIA

ChildrenÕs PKU Network3970 Via de la ValleSuite 120 EDel Mar, CA 92014Phone: 858-509-0767Fax: 858-509-0768Email: [email protected]


National PKU Newswww.pkunews.org

News and information about PKU including: personal stories, information for students writing papers, support information, and information on relevant legislation andpolicies.

Low Protein Recipeswww.lowprotein.com

Delicious low protein recipes created by amother of a child with homocystinuria.

National Coalition for PKU and AlliedDisorderswww.pku-allieddisorders.org

Organization composed of individuals,metabolic support groups and profession-als seeking to improve the identification,

treatment, and management of PKU andallied disorders.


Low Protein Cookery forPhenylketonuriaby Schuett, V.E.University of Wisconsin Press, 3rdEdition, 1997

Provides recipes for American style cook-ing, instructions for calculating nutrientcontent, and tips on handling specialcircumstances such as kid’s parties.

PORPHYRIA

American Porphyria Foundation4900 WoodwaySuite 780Houston, TX 77056Phone: 713-266-9617Fax: 713-840-9552Email: [email protected]

PRADER- WILLI SYNDROME

Prader- Willi Syndrome Association5700 Midnight Pass Road, Suite 6Sarasota, FL 34242Phone: 800-926-4797 or 941-312-0400Fax: 941-312-0142Email: [email protected]

In Connecticut:Prader-Willi Syndrome Association Connecticut Chapter, Inc.35 Ansonia DriveNorth Haven, CT 06473Phone: 203-239-9902Email: [email protected]

Prader-Willi Association of New EnglandNew England Region (ME, MA, RI, NH, VT) Sherie Bombardier 2 Ernest Street Webster, MA 01570 Phone: 508-943-1400

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Uniparental Disomy: Prader- WilliSyndrome, Angelman Syndromewww.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/uniparen.html

Brief overview provided by the LucilePackard Children’s Hospital at Stanford.


Prader- Willi Syndrome: Development and Manifestationsby Whittington, J. and Holland, T.Cambridge University Press, 2004

Based on the largest cohort of studies on Prader Willi syndrome, this book providesinformation on the condition and itsmanagement including medical, nutri-tional, psychological, educational, social,and therapeutic issues.

PRUNE BELLY SYNDROME

Prune Belly Syndrome Network, Inc.P.O. Box 154Beloit, WI 53512Email: [email protected]

PSEUDOXANTHOMA ELASTICUM

National Association forPseudoxanthoma Elasticum, Inc.8764 Manchester RoadSuite 200St. Louis, MO 63144Phone: 314-962-0100Fax: 314-962-0100Email: [email protected]

PXE, International4301 Connecticut Avenue NW, Suite 404Washington, DC 20008Phone: 202-362-9599Fax: 202-966-8553Email: [email protected]

PXE New England Regional OfficeGordon & Wendy Wood Hubbard73 Marnoch DriveSeekonk, MA 02771Phone: 508-336-7461Email: [email protected]

RARE CONDITIONS

Rare Kids, Inc.PO Box 69East Walpole, MA 02320Phone: 508-668-2850Email: [email protected] www.Rarekids.org

Nonprofit organization established to supportchildren afflicted with rare diseases. RareKids has also supported many charitableorganizations which provide support andresearch for those afflicted with rare diseasesincluding Families of SMA, The A-T Children’sProject, Foundation for Ichthyosis and more.

RETINITIS PIGMENTOSA

Retinitis Pigmentosa InternationalP.O. Box 900Woodland Hills, CA 91365Phone: 818-992-0500Fax: 818-992-3265Email: [email protected]

Foundation Fighting Blindness11435 Cronhill DriveOwings Mills, MD 21117Phone: 888-394-3937 or 410-568-0150Fax: 410-363-2393Email: [email protected]

Massachusetts - Chapter:Lynn E. Donnelly, President232 Winchester Street # 2Brookline, MA 02446-2767Phone: 617-739-3169Email: [email protected]

Massachusetts – Support Group:Contact: Tina KurysEmail: [email protected]

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American Council of the Blind, Inc.1155 15th Street, NW, Suite 1004Washington, DC 20005Phone: 800-424-8666 or 202-467-5081Fax: 202-467-5085Email: [email protected]

Connecticut Council of the Blind:Alice Jackson191 Centrebrook RoadHamden, CT 06518Email: [email protected]/~dmclean/ccb.html

Maine Chapter:Mel Clarrage, President 221 Longfellow Street, Unit 2 Westbrook, ME 04092 Email: [email protected]

Bay State Council of the BlindJerry Berrier, President 108 Bumble Bee Circle Shrewsbury, MA 01545 Email: [email protected] www.acb.org/baystate/

Vermont Council of the Blind:Harriet G. Hall, President 95 Pine Grove Cemetery RoadNewport, VT 05855 Email: [email protected]

American Foundation for the Blind11 Penn Plaza, Suite 300New York, NY 10001Phone: 800-232-5463 or 212-502-7600Fax: 212-502-7777Email: [email protected]


Visionchannelwww.visionchannel.net/retinitisIncludes overview of retinitis pigmentosaincluding symptoms, risk factors, treatment,and diagnosis.


Ordinary Daylight: Portrait of anArtist Going Blind by Potok, A.Bantam, 2003

Story of a gifted painter with retinitis pig-mentosa who loses his sight. Depressed andangry, he ultimately discovers it is not theend of the world; it is the beginning.

Amazing Grace: Autobiography of aSurvivorby Halloran, G.North Star Publications, 1993

Personal account of a blind mother and herson, her unconventional therapies, challengesand triumphs.

RETT SYNDROME

International Rett SyndromeAssociation9121 Piscataway Road, 2BClinton, MD 20735Phone: 800-818-7388 or 301-856-3334Fax: 301-856-3336Email: [email protected]

Rett Syndrome Research Foundation4600 Devitt DriveCincinnati, OH 45246Phone: 513-874-3020Fax: 513-874-2520Email: [email protected]

Connecticut contact:Monica Coenraads67 Under Cliff RoadTrumbull, CT 06611Phone: 203-445-9233Email: [email protected]


The DRM WebWatcher: Rett syndromewww.disabilityresources.org/RETT.html

Links to sites pertaining to Rett syndrome.

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Grief Dancers: A Journey into theDepths of the Soulby Zimmerman, S.Nemo Press, 1996

Mother’s story of raising a daughter withRett Syndrome.

SCLERODERMA

Scleroderma Foundation300 Rosewood DriveSuite 105Danvers, MA 01923Phone: 800-722-4673 or 978-463-5843Fax: 978-463-5809Email: [email protected]

Connecticut Chapter:Tri-State Chapter (Connecticut, NorthernNew Jersey, South Central and EasternNew York)59 Front StreetBinghamton, NY 13905Phone: 800-867-0885 or 607-723-2239FAX: 607-723-2039Email: [email protected]/chapter/tristate/

New England Chapter (includes MA, ME, NH,VT, RI): 462 Boston Street, Suite 1-1Topsfield, MA 01983Tom Curran, Executive DirectorPhone: 978-887-0658 or 888-525-0658Email: [email protected]/chapter/newengland/

Scleroderma Research Foundation220 Montgomery StreetSuite 1411San Francisco, CA 94104Phone: 800-441-2873 or 415-834-9444Fax: 415-834-9177Email: [email protected]/srf/home.htm


Scleroderma From A to Zwww.sclero.org

Resource available in multiple languageswith links to medical information, supportgroups, personal accounts, books, messageboards, and news.


The Scleroderma Book: A Guide forPatients and Familiesby Mayes, M.D.Oxford University Press, 1999

Practical information provided by a leading expert in the field.

Scleroderma: A New Role forPatients and Familiesby Brown, M.Scleroderma Press, 2nd Edition, 2002

Written from the perspective of a patientand family, this is a useful resource forboth medical and non-medical issues.

SICKLE CELL ANEMIA

Sickle Cell Disease Association of America165 South Calvert Street, Suite 600Baltimore, MD 21202Phone: 800-421-8453 or 410-528-1555Fax: 410-528-1495Email: [email protected]

Connecticut Chapters:Southern Regional Sickle Cell Association, Inc.177 State Street, 3rd floorBridgeport, CT 06604Phone: 888-745-2327 or 203-366-8710Fax: 203-368-9071Email: [email protected]

SCDAA- Connecticut Chapter The Urban League Building140 Woodland St., Suite 102Hartford, CT 06511Phone: 800-379-0119 or 860-527-0147 x145 Email: [email protected]

60

Satellite Offices:226 Dixwell Avenue, 2nd FloorNew Haven, CT 06511Phone: 203-498-4051Fax: 203-498-4054Email: [email protected]

Citizens for Quality Sickle Cell CareP.O. Box 702100 Arch StreetNew Britain, CT 06050Phone: 860-223-7222Email: [email protected]

Massachusetts Chapter:Community Sickle Cell Support Group, Inc.1542 Tremont St.Roxbury, MA 02120Phone: 617-427-4100 Fax: 617-262-3190Email: [email protected]


Sickle Cell Information Center,Atlanta, GAwww.scinfo.org

Provides both the patient and the profes-sional with information on news, researchupdates, and world wide sickle cell resources.

Information Center for Thalassemiaand Sickle Cell Diseasewww.sickle.bwh.harvard.edu

Source of current information on sicklecell, thalassemia, and disorders of ironmetabolism. Includes overviews of basicand clinical research, disease management ,and new developments in the field.

SJOGREN S SYNDROME

SjogrenÕs Syndrome Foundation8120 Woodmont AvenueSuite 530Bethesda, MD 20814Phone: 800-475-6473 or 301-718-0300Fax: 301-718-0322Email: [email protected]

In Connecticut:State support leader; Isabel LopezNorwalk, CTPhone: 203-846-1031

In Massachusetts:Greater Boston Support Group Leader;Lynn Epstein, MDPhone: 617-636-3932 (through Dr. AthenaPapas’ office)


SjS Worldwww.sjsworld.org

Online community that offers patients andfamilies a place to meet and share expe-riences, books, and, medical information.Includes and email groups and chat rooms.


The New Sjogren SyndromeHandbookby Wallace, D.J., Bromet, E.J., andthe Sjogren Syndrome FoundationOxford University Press, 2005

A comprehensive and authoritative guidethat has been extensively revised fromtheir original edition. Designed for peoplewith Sjogren syndrome and for physicians, itprovides readers with the best medicaland practical information available onthis disorder. Includes information onsymptoms, diagnosis, and treatmentoptions and offers tips for daily living.

A Body Out of Balance: Understandingand Treating Sjogren Syndromeby Fremes, R., Carteron, N. and Grayzel, A.Avery Publishing Group, 2003

A comprehensive guide that covers allaspects of living with Sjogren syndrome.

The Sjogren Syndrome Survival Guideby Rumpf, T.P. and Hammitt, K.M.New Harbinger Publications, 2003

Detailed information on how to copewith this condition.

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SMITH- LEMLI-OPITZ SYNDROME

Smith-Lemli-Opitz/RSH SyndromeFoundationP.O. Box 212Georgetown, MA 01833Phone: 978-352-5885Contact: Cynthia Gold Email: [email protected] [email protected]

SOTOS SYNDROME

Sotos Syndrome Support AssociationP.O. Box 4626Wheaton, IL 60189Phone: 888-246-7772Email: [email protected]/user/sssaEmail support groups available.


Sotos Syndrome: A Handbook for Familiesby Anderson, R.R. and Buehler, B.A.Sotos Syndrome Support Association

Includes description of the condition,medical and developmental evaluations,and glossary. Order through the SotosSyndrome Support Association.

SPINA BIFIDA

Spina Bifida Association of America4950 MacArthur Boulevard NW, Suite 250Washington, DC 20007Phone: 800-621-3141 or 202-944-3285Fax: 202-944-3295Email: [email protected]

Spina Bifida Association of ConnecticutP.O. Box 2545Hartford, CT 06146Phone: 800-574-6274 or 860-653-1976Fax: 860-345-2600Email: [email protected]

Massachusetts Spina Bifida Association733 Turnpike Street, #282North Andover, MA 01845Phone: 888-479-1900 or 617-742-2574 Fax: 978-649-8725Email: [email protected] www.msbaweb.org


Children with Spina Bifida: AResource Page for Parentswww.waisman.wisc.edu/~rowley/sb-kids/sb-awareness.html

Links to spina bifida organizations, articles, web sites, online discussion group.Information about related diagnoses,learning issues, family support, tests, surgeries and treatments, prenatal diagnosis and fetal surgery, and genetics.


Views from Our Shoes: Growing Upwith a Brother or Sister with SpecialNeedsby Meyer, D.J. and Pillo, C.Woodbine House, 1997

About using a wheelchair. Recommendedby a girl with spina bifida.

Children With Spina Bifida: AParentÕs Guide by Lutkenhoff, M.Woodbine House, 1999

Provides parents with information, guidanceand support to help meet their child’s oftenintensive needs from birth through childhood.

Spinabilities: A Young PersonÕs Guideto Spina Bifida by Lutkenhoff, M. and Oppenheimer,S.G.Woodbine House, 1997This book helps young people who havespina bifida attain as much control overtheir own care and achieve as much independence as possible.

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TAY- SACHS DISEASE

National Tay-Sachs and AlliedDiseases Association2001 Beacon Street, Suite 204Brighton, MA 02135Phone: 800-906-8723Fax: 617-277-0134Email: [email protected]

In Connecticut(Serving CT, NJ and NY)1202 Lexington Avenue #288New York, NY 10028Phone: 888-354-7788 or 212-431-0431Fax: 888-354-4884Email: [email protected]



Follow links to Tay-Sachs Disease. Includesdisease description and information aboutnatural history, genetics and testing.


Tay-Sachs Diseaseby Desnick, R.J. and Kaback, M.M.Academic Press, 2001

Medical reference text written and editedby recognized leaders in the field.

THALASSEMIA

Cooley s Anemia Foundation, Inc.129-09 26th AvenueSuite 203Flushing, NY 11354Phone: 800-522-7222 or 718-321-2873Fax: 718-321-3340Email: [email protected]

Connecticut Contact:Peter ChiecoPhone: 914-232-1808Email: [email protected]

Massachusetts Contact: Rudi ViscomiPhone: 617-332-5952


Information Center for Thalassemia and Sickle Cell Diseasewww.sickle.bwh.harvard.edu

Source of current information on sicklecell, thalassemia, and disorders of ironmetabolism. Includes overviews of basicand clinical research, disease management,and new developments in the field.

Northern California ComprehensiveThalassemia Centerwww.thalassemia.com

Information for patients, families, healthprofessionals and interested community members to improve the quality of lifeand survival of thalassemia patients.


The Thalassemia Syndromes by Weatherall, D.J. and Clegg, J,B,Blackwell Publishers, 4th Edition, 2001

New edition that summarizes the evidence suggesting that the clinicalpicture of this disorder may result fromseveral different inherited defects ofglobin synthesis. Includes historicalbackground on the field.

TOURETTE SYNDROME

Tourette Syndrome Association, Inc.42-40 Bell BoulevardBayside, NY 11361Phone: 800-237-0717 or 718-224-2999Fax: 718-279-9596Email: [email protected]

Connecticut Chapter:Phone: 203-912-7310Email: [email protected]

Maine and New Hampshire Chapter: Phone: 877-368-9800Email [email protected]/tourette

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Massachusetts Chapter:Phone: 617-277-7589Email [email protected]

Rhode Island Chapter:Phone: 401-301-9980Email: [email protected]/tsari

For Vermont info. contact National TSA.


Tourette-Syndrome.comwww.tourette-syndrome.com

Comprehensive online community devoted tochildren and adults with Tourette syndrome.


Tourette Syndrome: Finding Answers and Getting Helpby Waltz, M.Patient Center Guides, 2001

A support guide offering help to familiesliving and dealing with Tourette syndrome.

Icy Sparks by Rubio, G.H.Penguin Books, 2001

This book is about a young girl who hasTourette, but doesn’t know it. She growsup in the back hills of Kentucky, and noone knows what to make of her.

TREACHER COLLINS SYNDROME

Treacher Collins ConnectionP.O. Box 156Boston, MA 02131Contact Person: Judy (located in NorthCarolina)Phone: 704-545-1921Email: [email protected] [email protected]


Reflections on Treacher CollinsSyndromewww.treachercollins.org

Web site written by a pediatric residentwith Treacher Collins syndrome. Includesmany resource links.

TUBEROUS SCLEROSIS

Tuberous Sclerosis Alliance801 Roeder RoadSuite 750Silver Spring, MD 20910Phone: 800-225-6872 or 301-562-9890Fax: 301-562-9870Email: [email protected]

Contact main office for support contactsin Connecticut, Massachusetts, NewHampshire, and Rhode Island.


The Cardiff-Rotterdam TuberousSclerosis Mutation Databasewww.archive.uwcm.ac.uk/uwcm/mg/tsc_db

Contains published mutations and poly-morphisms in the TSC2 gene.


Tuberous Sclerosis Complex: FromBasic Science to Clinical Phenotypesby Curatolo, P., editorMacKeith Press, 2003

Discusess correlation between newgenetic and basic science data and theclinical presentation.

TURNER SYNDROME

Turner Syndrome Society of the UnitedStates14450 TC JesterSuite 260Houston, TX 77014Phone: 800-365-9944 or 832-249-9988Fax: 832-249-9987Email: [email protected]

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In Connecticut:Connecticut Turner Syndrome SocietyContact Sandra Gittleman57 Cianci DriveSouthington, CT 06489Phone: 860-628-8729Email: [email protected]

Massachusetts and Southern NewEngland Turner Syndrome Society Contact: Beth Wheeler1034 Maple StreetMansfield, MA 02048Phone: 508-339-3022Email: [email protected]

Northern New England Turner Society(serving New Hampshire, Maine andVermont)Contact: Lori-Ann Pawlowski38 Beaman StreetLaconia, New Hampshire 03246Phone: 603-524-6011Email: [email protected]

Rhode Island Chapter:Contact: Debbie Pomerantz24 Turner St. Unit 3Warwick, Rhode Island 02886Phone: 401-732-2136Email: [email protected]

UREA CYCLE DISORDERS

National Urea Cycle Disorders Foundation4841 Hill StreetLa Canada, CA 91011Phone: 800-386-8233/818-790-2460Fax: 818-952-2184Email: [email protected]


Urea Cycle Disorderswww.meadjohnson.com/metabolics/ureacycle.html

Detailed overview of the conditions and therapies.

VELO-CARDIO- FACIAL SYNDROME

Velo-Cardio-Facial Syndrome Educational Foundation, Inc.P.O. Box 874Milltown, NJ 08850Phone: 866-823-7335 or 732-238-8803Fax: 315-464-6593Email: [email protected] main office for local chapters.

Northeast VCFS Support GroupContact Maureen Anderson2 Lansing DriveSalem, NH 03079Phone: 603-898-6332Email: [email protected]

VON HIPPEL- LINDAU SYNDROME

VHL Family Alliance171 Clinton RoadBrookline, MA 02445Phone: 800-767-4845 or 617-277-5667Fax: 858-712-8712Email: [email protected]

In Connecticut:Email: [email protected]

In Maine:Email: [email protected]

In Massachusetts:Email: [email protected]

In New Hampshire, Rhode Island andVermont:Email: [email protected]

WILLIAMS SYNDROME

Williams Syndrome AssociationP.O. Box 297Clawson, MI 48017Phone: 800-806-1871 or 248-244-229Fax: 248-244-2230Email: [email protected]

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Connecticut contact:Holly Weston495 Route 87Columbia, CT 06237Phone: 2860-228-1020Email: [email protected]


The Williams SyndromeComprehensive Web Sitewww.wsf.org

Includes medical and general informationon behavioral issues and research.


Understanding Williams Syndrome: A Guide to Behavioral Patterns andInterventionsBy Semel, E. and Rosner, S.R.Lawrence Erlbaum Associates, Inc., 2003

Includes basic information on the disorderincluding neurogenetic implications, chal-lenges and interventions.

Journey from Cognition to Brain toGene: Perspectives from WilliamsSyndromeby Bellugi, U. and St. George, M.I.MIT Press, 2001

Presents the work of a team of scientistslinking genes with human behavior.

WILSONÕS DISEASE

WilsonÕs Disease AssociationInternational1802 Brookside DriveWooster, OH 44691Phone: 800-399-0266 or 330-264-1450Fax: 509-757-6418Email: [email protected]

Connecticut contact:Lenore and Russell Sillery152 Cheese Spring RoadWilton, CT 06897Phone: 203-762-2372 or 203-961-9993Fax: 203-961-9993Email: [email protected]


WilsonÕs Disease Resources andInformationwww.acsu.buffalo.edu/~drstall/wilsons.html

Web site written by physician who hasWilson’s disease.

LOW COPPER DIET FOR WILSON S DISEASE

www.gicare.com/pated/edtgs17.htm

Gastroenterologist’s web site withdetailed nutritional information forWilson’s disease patients.


WilsonÕs Disease: A ClinicianÕs Guideto Recognition, Diagnosis, andManagementby Brewer, G.J.Kluwer Academic Publishers, 2001

A guide for the physician with informa-tion about symptoms, diagnosis andtreatment options for patients withWilson’s disease.

WilsonÕs Disease for the Patient andFamily: A PatientÕs Guide to WilsonÕsDisease and Frequently AskedQuestions about Copperby Brewer, G.J.George J. Brewer, MD through XlibrisPublishing Services Provider, 2001

A guide for individuals with Wilson’s disease. Helpful advice about diagnosis,treatment and quality of life issues.

IV.C O M M O N G E N E T I C T E R M S

ALLELE: Variant forms of the same gene.Different alleles produce variations ininherited characteristics such as eyecolor or blood type.

ALLELIC HETEROGENEITY: A single disorder, trait, or pattern oftraits caused by different mutationswithin a gene.

ALLELIC VARIANT: An alteration in the normal sequenceof a gene, the significance of whichmay be unclear. Complete genesequencing often identifies numerousallelic variants (sometimes hundreds)for a given gene.

AMINO ACID: Any of a class of 20 molecules that arecombined to form proteins in livingthings. The sequence of amino acids ina protein, and therefore protein function,is determined by the genetic code.

ANEUPLOIDY: The occurrence of one or more extraor missing chromosomes leading to anunbalanced chromosome complement.

ANTICIPATION: The tendency in certain genetic disorders for individuals in successivegenerations to present at an earlierage and/or with more severe manifes-tations; often observed in disordersresulting from the expression of atrinucleotide repeat mutation thattends to increase in size and have amore significant effect when passedfrom one generation to the next.

AUTOSOMAL: Any of the chromosomes other than thesex-determining chromosomes (X and Y)or the genes on these chromosomes.

AUTOSOMAL DOMINANT: Describes a trait or disorder requiringthe presence of only one copy of agene mutation at a particular locus in

order to express observable phenotype;specifically refers to genes on one ofthe 22 pairs of non-sex chromosomes.

AUTOSOMAL RECESSIVE: Describes a trait or disorder requiringthe presence of two copies of a genemutation at a particular locus in orderto express observable phenotype;specifically refers to genes on one ofthe 22 pairs of non-sex chromosomes.

BACKGROUND RISK: The proportion of individuals in thegeneral population who are affectedwith a particular disorder or whocarry a certain gene; often discussedin the genetic counseling process as acomparison to the patient's personalrisk given his or her family history orother circumstances.

BAND LEVEL: Terminology used in reference to cyto-genetic analysis. Refers to the totalnumber of stripes, or bands, elicitedon each chromosome with stainingtechniques. Band level is the totalnumber of bands estimated to bepresent in a haplotype set (23) ofchromosomes. When analysis is per-formed at an early stage of mitosis(prometaphase), chromosomes appearlonger, with approximately 700-1200bands. At a later stage of mitosis(metaphase), chromosomes are morecondensed, with approximately 300-600 bands. At higher band levels, thegreater resolution increases the abilityto identify more subtle chromosomalabnormalities and their breakpoints.

BASE PAIR: In DNA, two complementary, nitrogen-rich molecules held together by weakchemical bonds. Two strands of DNAare held together in the shape of adouble helix by the bonds betweentheir base pairs.

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CARRIER:An individual who has a recessive,disease-causing allele at a particularlocus on one chromosome of a pairand a normal allele at that locus onthe other chromosome. Carriers areusually asymptomatic.

CARRIER DETECTION OR CARRIERTESTING: Testing used to identify usually asymp-tomatic individuals who have a genemutation for an autosomal recessive orX-linked recessive disorder.

CARRIER FREQUENCY: The proportion of individuals in a population who have inherited a single copy of a specific recessivegene mutation.

CELL CYCLE: The complete series of events fromone cell division to the next.

CENTROMERE:The constricted portion of the chromo-some at which the chromatids arejoined and to which the spindleattaches during mitosis and meiosis.

CHROMOSOME: Structure found in the nucleus of acell, which contains the genes.Chromosomes come in pairs, and anormal human cell contains 46 chromosomes (23 pairs).

CODING REGION: Sequence of DNA consisting of a seriesof nucleotide bases (code) giving riseto the mature messenger RNA thatwill be translated into the specificamino acids of the protein product.

CODOMINANCE: Situation in which two different allelesfor a genetic trait are both expressed.

CODON: In DNA or RNA, a sequence of threenucleotides that codes for a certain

amino acid or signals the terminationof translation (stop or terminationcodon).

COMPOUND HETEROZYGOTE: An individual who has two differentabnormal alleles at a particular locus,one on each chromosome of a pair;usually refers to individuals affectedwith an autosomal recessive disorder.

CONGENITAL:Present from birth, not necessarilygenetic.

CONSULTAND: The individual (not necessarily affected)who presents for genetic counselingand through whom a family with aninherited disorder comes to medicalattention.

CROSS OVER (MEIOSIS): A specialized cell division in which asingle diploid cell undergoes twonuclear divisions following a singleround of DNA replication in order toproduce four daughter cells, each withhalf the number of chromosomes asthe original diploid cell. Meiosis occursduring the formation of gametes fromdiploid organisms and at the beginningof haplophase in those organisms thatalternate between diploid and haploidgenerations.

CROSSING OVER: The exchange of a segment of DNAbetween two homologous chromo-somes during meiosis leading to anovel combination of genetic materialin the offspring.

CYTOGENETICS:The study of the structure, function, andabnormalities of human chromosomes.

DE NOVO GENE MUTATION: Alteration in a gene present for the firsttime in one family member as a resultof a mutation in the egg or sperm cellleading to that person’s conception.

DELETION: Absence of a segment of DNA; may beas small as a single base or largeenough to encompass one or moreentire genes. Large deletions involvinga whole segment of a chromosomemay be detected by routine examina-tion of the chromosomes; intermediatedeletions involving a few genes maybe detected by using fluorescent insitu hybridization (FISH); smaller dele-tions involving a portion of a gene mayonly be detected through DNA analysis.

DEOXYRIBONUCLEIC ACID: DNA. The molecules inside cells thatmake up the genes, that carry geneticinformation from one generation tothe next.

DERIVATIVE CHROMOSOME: Term used to denote an abnormalchromosome consisting of segmentsfrom two or more chromosomesjoined together as the result of atranslocation, insertion, or otherrearrangement.

DIPLOID: The normal number of chromosomesin a somatic cell; in humans, 46 chro-mosomes (22 pairs of autosomes plustwo sex chromosomes).

DIRECT DNA ANALYSIS: Molecular genetic testing used todetect a genetic alteration associatedwith a specific disorder; direct DNAanalysis is possible only when thegene, genes, or genomic region associated with a disorder is known.

DISEASE CAUSING MUTATION: A gene alteration that causes or predisposes an individual to a specificdisease.

DNA BANKING: The process through which DNA isextracted from any of a number ofpossible cell sources and stored indefi-nitely by freezing or refrigerating for

future testing; done when a specifictest is not presently available or whenthe decision to have testing has notbeen made.

DOUBLE HETEROZYGOTE: An individual who has two differentgene mutations at two separategenetic loci.

EMBRYO: An animal in the early prenatal stagesof growth and differentiation, specifi-cally refers to the developing humanduring the first trimester of pregnancy.

EUPLOID: Any chromosome number that is amultiple of the haploid number.

EXON:The protein-coding DNA sequence of agene. Each exon codes for a specificportion of the complete protein. Insome species (including humans), agene's exons are separated by longregions of DNA (called introns) thathave no apparent function.

FALSE PATERNITY: The situation in which the allegedfather of a particular individual is notthe biological father.

FALSE POSITIVE: A test result which indicates that anindividual is affected and/or has a certain gene mutation when he or sheis actually unaffected and/or does nothave the mutation; i.e., a positive testresult in a truly unaffected individual.

FAMILIAL: Describes a trait that is observed withhigher frequency within the samefamily, whether the etiology is geneticor environmental, or a combination ofthe two.

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FAMILY HISTORY: The genetic relationships and medicalhistory of a family; when representedin diagram form using standardizedsymbols and terminology, usuallyreferred to as a pedigree. A record ofa person's current and past illnesses,and those of his or her parents, broth-ers, sisters, children, and other familymembers. A family history shows thepattern of certain diseases in a family,and helps to determine risk factors forthose and other diseases.

FERTILITY:The capacity to conceive or to induceconception. May refer to either themale or female.

FETUS: An animal in the early prenatal stagesof growth and differentiation; specifi-cally refers to the developing humanduring the second and third trimestersof pregnancy.

FIBROBLAST: A connective tissue cell that makesand secretes collagen proteins.

FIRST- DEGREE RELATIVE: Parent, sibling, or offspring of an indi-vidual. A relative that shares one halfof the person’s genes.

FLANKING MARKER: An identifiable, polymorphic region ofDNA located to the side of a gene, butnot within the gene itself. Used inlinkage analysis to track the coinheri-tance of the gene in question.

FLUORESCENT IN SITUHYBRIDIZATION: (FISH)A cytogenetic technique used to iden-tify the presence of specific chromo-somes or chromosomal regions.

GAMETOGENESIS: The meiotic process by which matureeggs and sperm are formed. Oogenesisrefers specifically to the production of

ova (eggs) and spermatogenesis tothe production of sperm.

GENE: The functional and physical unit ofheredity passed from parent to off-spring. Genes are pieces of DNA, andmost genes contain the informationfor making a specific protein.

GENE EXPRESSION: The detectable effect of a gene.

GENE PRODUCT:Genes are transcribed into segmentsof RNA (ribonucleic acid), which aretranslated into proteins. Both RNAand proteins are products of theexpression of the gene.

GENE THERAPY: Treatment of a genetic disorder usually by the insertion of geneticallyaltered genes into cells especially toreplace defective genes or to providea specialized disease fighting function(as the destruction of tumor cells).

GENETIC PREDISPOSITION: Increased susceptibility to a particulardisease due to the presence of one ormore gene mutations, and/or a combi-nation of alleles (haplotype), not necessarily abnormal, that is associatedwith an increased risk for the disease.Also refers to a family history that suggests an increased risk for the disease.

GENETIC TESTING: Analysis of DNA to look for a geneticalteration.

GENOMICS: The study of the sequence, structure,and function of the genome. The com-plete DNA sequence in an individualor species.

GENOTYPE: The genetic constitution of an organ-ism or cell; also refers to the specificset of alleles inherited at a locus.

GENOTYPE-PHENOTYPE CORRELATION:The association between the presenceof a certain mutation or mutations(genotype) and the resulting physicaltrait, (phenotype).

GERMLINE:The cell line from which egg or spermcells (gametes) are derived.

GERMLINE MOSAICISM:Two or more genetic or cytogeneticcell lines confined to the precursorcells of the egg or sperm; also calledgonadal mosaicism.

GERMLINE MUTATION: The presence of an altered gene with-in the egg or sperm (germ cell) suchthat the altered gene can be passed tosubsequent generations.

HAPLOID: Half the diploid or normal number ofchromosomes in a somatic cell; thenumber of chromosomes in a gamete(egg or sperm) cell, which in humansis 23.

HETEROZYGOTE: With respect to a particular trait orcondition, an individual who hasinherited two different alleles, usuallyone normal and the other abnormal,at a particular locus.

HOMOLOGOUS CHROMOSOMES: A pair of particular chromosomes, nor-mally one inherited from the motherand one from the father, containingthe same genetic loci in the same order.

HOMOZYGOTE: With respect to a particular trait orcondition, an individual who hasinherited identical alleles at a particular locus.

IMPRINTING: A phenomenon in which the diseasephenotype depends on which parentpassed on the disease gene. This isdetermined by the process by which

maternally and paternally derivedchromosomes are uniquely chemicallymodified leading to different expres-sion of a certain gene or genes onthose chromosomes depending ontheir parental origin.

INFERTILITY:Incapable of or unsuccessful in achiev-ing pregnancy over a considerableperiod of time (as a year) in spite ofdetermined attempts.

INHERITANCE PATTERN: The manner in which a particulargenetic trait or disorder is passedfrom one generation to the next.Autosomal dominant, autosomalrecessive, X-linked dominant, X-linkedrecessive, multifactorial, and mito-chondrial inheritance are examples.

INSERTION: A chromosome abnormality in whichmaterial from one chromosome isinserted into another chromosome; ora mutation in which a segment ofDNA is inserted into a gene or othersegment of DNA, potentially disruptingthe coding sequence.

INTRAFAMILIAL VARIABILITY: Variation in clinical presentation of aparticular disorder among affectedindividuals within the same family.

INTRON:Non-coding sequence of DNA removedfrom mature messenger RNA prior to translation, leaving only the exons toultimately encode the amino acid product.

INVERSION: A chromosomal rearrangement in whicha segment of genetic material is brokenaway from the chromosome, invertedfrom end to end, and re-inserted intothe chromosome at the same breakagesite. These may be balanced, with noloss or gain of genetic material, orunbalanced, with missing or extragenetic material.

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KARYOTYPE:A photographic representation of thechromosomes of a single cell,arranged in pairs based on theirbanding pattern and size according toa standard classification.

KINDRED: An extended family; term often usedin linkage studies to refer to largefamilies.

LINKAGE ANALYSIS: Indirect DNA analysis. The use of sev-eral DNA sequence polymorphisms(normal variants) that are near orwithin a gene of interest to track theinheritance of a disease-causingmutation in that gene within a family.

LINKAGE DISEQUILIBRIUM: In a population, co-occurrence of aspecific DNA marker and a disease at a higher frequency thanwould be predicted by chance alone.

LOCUS:The physical site or location of a specific gene on a chromosome.

LOCUS HETEROGENEITY: A single disorder, trait, or pattern oftraits caused by mutations in genesat different chromosomal loci.

LYONIZATION:In females, the phenomenon in whichone X chromosome (either maternallyor paternally derived) is randomlyinactivated in early embryonic cells,with fixed inactivation in all descen-dant cells; first described by thegeneticist Mary Lyon.

MAPPED GENE: A gene or phenotype whose relativeposition on a segment of DNA or ona chromosome has been established.

MARKER: An identifiable segment of DNA withenough variation between individualsthat its inheritance and co-inheritancewith alleles of a given gene can betraced; used in linkage analysis.

MARKER CHROMOSOME: A small chromosome, usually contain-ing a centromere, occasionally seen intissue culture, often in a mosaic state.A marker chromosome may be of littleclinical significance or may create animbalance for whatever genes arepresent. Clinical significance, particu-larly if found in a fetal karyotype, isoften difficult to assess.

MATERNAL CONTAMINATION: The situation in which a fetal samplebecomes contaminated with maternalcells, which can confound interpreta-tion of the results of genetic analysis.

MEIOSIS: Specialized cell division in which asingle diploid cell undergoes twonuclear divisions following a singleround of DNA replication in order toproduce four daughter cells, eachcontaining half the number of chro-mosomes as the original diploid cell.Meiosis occurs during the formationof gametes from diploid organisms.

MESSENGER RNA: RNA that serves as a template forprotein synthesis.

MICRODELETION SYNDROME: A syndrome caused by a chromoso-mal deletion spanning several genesthat is too small to be detected underthe microscope using conventionalcytogenetic techniques. Other meth-ods of DNA analysis can sometimesbe employed to identify the deletion.

MITOCHONDRIAL INHERITANCE:Mitochondria, cytoplasmic organellesthat produce the energy source ATPfor most chemical reactions in thebody, contain their own distinctgenome; mutations in mitochondrialgenes are responsible for several recognized syndromes and are alwaysmaternally inherited.

MONOSOMY:The presence of only one chromosomefrom a pair; partial monosomy refersto the presence of only one copy of asegment of a chromosome.

MOSAICISM: The post-fertilization occurrence oftwo or more cell lines with differentgenetic or chromosomal constitutionswithin a single individual or tissue.

MULTIFACTORIAL INHERITANCE:The combined contribution of one ormore often unspecified genes andenvironmental factors, in the causa-tion of a particular trait or disease.

MUTATION: Any alteration in a gene from its naturalstate; may be disease causing or abenign, normal variant.

NEW MUTATION:An alteration in a gene that is presentfor the first time in one family memberas a result of a mutation in a germ cell(egg or sperm) of one of the parents orin the fertilized egg itself.

NON- DISJUNCTION: The failure of homologous chromo-somes or chromatids to segregate during mitosis or meiosis, with theresult that one daughter cell has bothof a pair of parental chromosomes orchromatids, and the other has none.

NONSENSE MUTATION:A single base pair substitution thatprematurely codes for a stop in aminoacid translation (stop codon).

NUCLEOTIDE:A molecule consisting of a nitroge-nous base (adenine, guanine, thymine,or cytosine in DNA; adenine, guanine,uracil, or cytosine in RNA), a phos-phate group, and a sugar (deoxyribosein DNA; ribose in RNA). DNA and RNAare polymers of many nucleotides.

OBLIGATE CARRIER OR OBLIGATEHETEROZYGOTE: An individual who may be clinicallyunaffected but who must carry a genemutation based on analysis of thefamily history; usually applies to disorders inherited in an autosomalrecessive or X-linked recessive manner.

ONCOGENE: A gene that normally directs cellgrowth. If altered, an oncogene canpromote or allow the uncontrolledgrowth of cancer. Alterations can beinherited or caused by an environmentalexposure to carcinogens.

ONCOSUPPRESSOR GENE: Also called a tumor suppressor gene.Genes in the body that can suppressor block the development of cancer.

PARACENTRIC INVERSION: A chromosomal inversion in which thebreakpoints are confined to one armof a chromosome; the inverted seg-ment does not span the centromere.

PARENTAGE TESTING:The process through which DNAsequences from a particular child anda particular adult are compared toestimate the likelihood that the twoindividuals are related; DNA testingcan reliably exclude but cannotabsolutely confirm an individual as abiological parent.

PEDIGREE: A diagram of the genetic relationshipsand medical history of a family using standardized symbols and terminology.

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PENETRANCE: The proportion of individuals with amutation causing a particular disorderwho exhibit clinical symptoms of thatdisorder; a condition is said to havecomplete penetrance if clinical symp-toms are present in all individualswho have the disease-causing mutation,and to have reduced or incomplete pen-etrance if clinical symptoms are notalways present in individuals whohave the disease-causing mutation.

PERICENTRIC INVERSION: A chromosomal inversion in which thebreakpoints occur on both arms of achromosome and therefore the invert-ed segment spans the centromere.

PHENOTYPE:The observable physical and/or biochemicalcharacteristics of the expression of a gene;the clinical presentation of an individualwith a particular genotype.

PLEIOTROPY: Multiple, often seemingly unrelated,physical effects caused by a singlealtered gene or pair of altered genes.

POINT MUTATION: An alteration in DNA sequence causedby a single nucleotide base change,insertion, or deletion.

POLYGENIC: Genetic condition resulting from thecombined action of alleles of morethan one gene (e.g. heart disease, diabetes, and some cancers).Although such disorders are at leastpartly inherited, they depend on thesimultaneous presence of several alleles; thus the hereditary patternsusually are more complex than thoseof single-gene disorders.

POLYMERASE CHAIN REACTION (PCR): A method of creating copies of specif-ic fragments of DNA. PCR rapidlyamplifies a single DNA molecule intomany billions of molecules.

POLYMORPHISM: A natural variation in a gene, DNAsequence, or chromosome that has noadverse effect and occurs with fairly highfrequency in the general population.

POLYPLOIDY: An increase in the number of haploidsets (23) of chromosomes in a cell.Triploidy refers to three whole sets ofchromosomes in a single cell (in humans,a total of 69 chromosomes per cell);tetraploidy refers to four whole setsof chromosomes in a single cell (inhumans, a total of 92 chromosomesper cell).

PREIMPLANTATION DIAGNOSIS:A procedure used to genetically testone cell removed from early embryosconceived by in vitro fertilization.Typically performed to identify specificgenetic abnormalities, before transfer-ring to the mother's uterus only thoseembryos determined not to haveinherited the abnormality in question.

PREMUTATION: In disorders caused by trinucleotiderepeat expansions, an abnormallylarge allele that is not associated withclinical symptoms but that can expandinto a full mutation when transmittedto offspring (full mutations are associatedwith clinical symptoms of the disorder).

PRENATAL DIAGNOSIS:Testing performed during pregnancyto determine if a fetus is affectedwith a particular disorder. Chorionicvillus sampling (CVS), amniocentesis,periumbilical blood sampling (PUBS),ultrasound, and fetoscopy are exam-ples of procedures used either toobtain a sample for testing or to eval-uate fetal anatomy.

PRESYMPTOMATIC TESTING: Testing of an asymptomatic individualin whom the identification of a genemutation indicates the developmentof a specific condition at some futurepoint in time. A negative resultexcludes the diagnosis.

PRIVATE MUTATION:A distinct gene alteration observed ina single family.

PROBAND: The affected individual through whoma family with a genetic disorder is ascertained; may or may not be theconsultand (the individual presentingfor genetic counseling).

REARRANGEMENT: A structural alteration in a chromo-some, usually involving breakage andreattachment of a segment of chromo-some material, and resulting in anabnormal configuration which may bebalanced or unbalanced. Examplesinclude inversion and translocation.

RECESSIVE:A gene which will be expressed only ifthere are 2 copies or, for a male, if onecopy is present on the X chromosome.

RECIPROCAL TRANSLOCATION: A chromosomal rearrangement inwhich a segment of one chromosome isexchanged with a segment of anotherchromosome of a different pair.

RECOMBINATION:The exchange of a segment of DNAbetween two homologous chromo-somes during meiosis leading to anovel combination of genetic materialin the offspring.

RECURRENCE RISK:The likelihood that a trait or disorderpresent in one family member willoccur again in other family members.

REFLEX TESTING:Follow-up testing automatically initiated when certain test results areobserved in the laboratory; used toclarify or elaborate on primary testresults.

RESTRICTION FRAGMENT LENGTHPOLYMORPHISM (RFLP) ANALYSIS:Fragment of DNA of predictable sizeresulting from cutting of a strand ofDNA by a given restriction enzyme.DNA sequence mutations that destroyor create the sites at which a restrictionenzyme cuts DNA change the size andnumber of DNA fragments resultingfrom digestion by a given restrictionenzyme.

RING CHROMOSOME: Abnormal chromosomes in a circularconfiguration.

RISK ASSESSMENT: Calculation of an individual's chanceof having inherited a certain genemutation, of developing a particulardisorder, or of having a child with acertain disorder based upon analysisof multiple factors including genetictest results, family medical history,and/or ethnic background.

ROBERTSONIAN TRANSLOCATION: The joining of two acrocentric chromo-somes at the centromeres with loss oftheir short arms to form a singleabnormal chromosome; acrocentricchromosomes are the Y chromosomesand the acrocentric chromosomes 13,14, 15, 21, and 22.

SCREENING:Testing designed to identify individualsin a given population who are at higherrisk of having or developing a particulardisorder, or carrying a gene for a par-ticular disorder.

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SECOND- DEGREE RELATIVE:A relative with whom one quarter ofan individual's genes are shared (i.e.,grandparent, grandchild, uncle, aunt,nephew, niece, half-sibling).

SEGREGATION: The separation of the homologouschromosomes and their random distribution to the gametes at meiosis.

SENSITIVITY: The frequency with which a test yieldsa positive result when the gene muta-tion in question is actually present inthe individual being tested.

SOMATIC MUTATION: Alterations in DNA that occur afterconception. Somatic mutations canoccur in any of the cells of the bodyexcept the germ cells (sperm and egg)and therefore are not passed on tochildren.

SPECIFICITY:The frequency with which a test yieldsa negative result when the genemutation in question is not present inthe individual being tested.

SPORADIC: Denoting either a genetic disorderthat occurs for the first time in a familydue to a new mutation or the chanceoccurrence of a disorder or abnormalitythat is not likely to recur in a family.

STEM CELLS: Relatively undifferentiated cells fromwhich other types of cells can develop.

SUBSTITUTION: A type of mutation due to replace-ment of one nucleotide in a DNAsequence by another nucleotide orreplacement of one amino acid in aprotein by another amino acid.

TELOMERE:The segment at the end of each chromo-some which has a specialized structureand is involved in chromosomal repli-cation and stability.

TRANSCRIPT: A sequence of RNA produced by tran-scription from a DNA template.

TRANSCRIPTION FACTOR: A protein that binds to regulatoryregions and helps control gene expression.TRANSFER RNA: Small RNA molecules that bond withamino acids and transfer them to theribosomes, where proteins are assem-bled according to the genetic code carried by messenger RNA.

TRANSLATION:The process of forming a protein mol-ecule at a ribosomal site of protein synthesis from information containedin messenger RNA.

TRANSLOCATION: A chromosome alteration in which awhole chromosome or segment of achromosome becomes attached to orinterchanged with another wholechromosome or segment. These maybe balanced, with no loss or gain ofgenetic material, or unbalanced, withextra or missing genetic material.

TRINUCLEOTIDE REPEAT:Sequences of three nucleotidesrepeated in tandem on the same chromosome a number of times. Anormal, polymorphic variation inrepeat number with no clinical signifi-cance commonly occurs between indi-viduals; however, repeat numbersover a certain threshold can, in somecases, lead to adverse effects on thefunction of the gene, resulting ingenetic disease.

TRISOMY: The presence of a single extra chromosome, yielding a total of threechromosomes of that particular typeinstead of a pair. Partial trisomy refersto the presence of an extra copy of asegment of a chromosome.

TRISOMY RESCUE:The phenomenon in which a fertilizedovum initially contains 47 chromosomesbut loses one of the trisomic chromo-somes in the process of cell divisionsuch that the resulting daughter cellsand their descendants contain the normal number of chromosomes.

UNIPARENTAL DISOMY (UPD):The situation in which both membersof a chromosome pair, or segments ofa chromosome pair, are inherited fromone parent and neither is inheritedfrom the other parent. Uniparentaldisomy can result in an abnormal phenotype in some cases.

UPD TESTING: Testing used to identify whether specific chromosomes are maternallyor paternally derived; can aid in confirming the clinical diagnosis ofcertain disorders for which UPD is apossible underlying etiology.

VARIABLE EXPRESSION:Variation in clinical features (type andseverity) of a genetic disorderbetween individuals with the samegene alteration, even within the same family.

X -LINKED DOMINANT: Describes a dominant trait or disordercaused by a mutation in a gene on theX chromosome.

X -LINKED LETHAL: A disorder caused by a dominantmutation in a gene on the X chromo-some that is observed almost exclu-sively in females because it is almostalways lethal in males.

X -LINKED RECESSIVE: A mode of inheritance in which amutation in a gene on the X chromo-some causes the phenotype to beexpressed in males who are hemizy-gous for the gene mutation or infemales who are homozygous for thegene mutation. Carrier females, whohave only one copy of the mutation,do not usually express the phenotype,although differences in X-chromosomeinactivation can lead to varyingdegrees of clinical expression.

ZYGOSITY TESTING: The process through which DNAsequences are compared to assesswhether individuals born from a multiple gestation (twins, triplets,etc.) are monozygotic (identical) ordizygotic (fraternal); often used toidentify a suitable donor for organ transplantation or to estimate diseasesusceptibility risk if one sibling isaffected.

Prepared by the CT Department of Public Health

SOURCES:

Genetics Home Reference — Your Guide toUnderstanding Genetic ConditionsA service of the U.S. National Library of MedicineAvailable at www.ghr.nlm.nih.gov. Accessed September 2004.

GeneTests: Medical Genetics InformationResource (database online)Educational materials: Glossary. Copyright, University of Washington, Seattle. 1993-2004. Updated weekly. Available at http://www.genetests.org.Accessed September 2004.

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BRIDGEPORT HOSPITAL267 Grant StreetBridgeport, CT 06610www.bridgeporthospital.com

Maternal Fetal Medicine/GeneticsPhone: 203-384-3049 or 203-384-4724Fax: 203-384-3574

An outreach site of Yale UniversitySchool of Medicine

CONNECTICUT DEPARTMENT OFPUBLIC HEALTHNEWBORN SCREENING PROGRAM410 Capitol AvenueP.O. Box 340308Hartford, CT 06134-0308Phone: 860-509-8081Fax: 860-509-7720www.dph.state.ct.us

Commissioner: J. Robert Galvin, MD, MPHDeputy Commissioner: Norma Gyle, RN, PhD

Connecticut state law mandates that all newborns delivered in Connecticut bescreened for selected genetic and meta-bolic disorders. The Newborn ScreeningProgram consists of three components:testing, tracking, and treatment. The aimof this program is to screen all babiesprior to hospital discharge or within thefirst 4 days of life. The goal is early identification of infants at increased riskfor disorders so that medical treatmentcan be promptly initiated to prevent irreversible problems ordeath.

(CT Newborn Screening DesignatedGenetic Treatment Centers will be indicated by ** in listings.)

CT NEWBORN SCREENING DESIGNATEDENDOCRINOLOGY REGIONAL TREATMENT CENTERS

CONNECTICUT CHILDREN’S MEDICAL CENTERPediatric Endocrinology Department282 Washington StreetHartford, CT 06106Phone: 860-545-9370Fax: 860-545-9371

YALE UNIVERSITY SCHOOL OF MEDICINE Yale Department of PediatricEndocrinology3103, LMPP.O. Box 208064New Haven, CT 06520-8064Phone: 203-764-9199Fax: 203-764-9149

CT NEWBORN SCREENING DESIGNATEDSICKLE CELL REGIONAL TREATMENT CENTERS

CT CHILDREN’S MEDICAL CENTERComprehensive HemoglobinDisorders Treatment Center282 Washington StreetHartford, CT 06106Phone: 860-545-9630Fax: 860-545-9622

YALE SICKLE CELL SERVICEYale University School of Medicine333 Cedar StreetLMP 4089P.O. Box 208064New Haven, CT 06520Phone: 203-785-6662Fax: 860-737-2461

GREENWICH HOSPITAL5 Perryridge RoadGreenwich, CT 06830Phone: 203-863-3000www.greenhosp.org

Perinatal Genetic CounselingPhone: 203-863-3917Fax: 203-863-3467

NORWALK HOSPITALMaple StreetNorwalk, CT 06856www.norwalkhosp.org

PerinatologyPhone: 203-852-3354Fax: 203-852-3610

STAMFORD HOSPITAL30 Shelburne RoadStamford, CT 06904www.stamhealth.org

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Maternal Fetal MedicinePhone: 203-325-7060 Fax: 203-325-7908

UNIVERSITY OF CONNECTICUTHEALTH CENTERDIVISION OF HUMAN GENETICSUConn Health Partners65 Kane Street, First FloorWest Hartford, CT 06106Phone: 860-523-6464Administrative Phone: 860-523-6499Fax: 860-523-6465www.uchc.edu/genetics

GENERAL GENETICS CONSULTATION SERVICEProvides: up-to-date information aboutthe heritability and cause of genetic disorders, such as birth defects, mentalretardation and late onset adult diseases;evaluation, diagnosis and managementof persons with genetic disorders; infor-mation about the recurrence risk to families with a genetic disorder; and supportive counseling to patients andtheir families.

HEREDITARY CANCER PROGRAMA referral/consultation service, whichevaluates families with multiple memberswith cancer, to assess the likelihood forhereditary cancer. Genetic testing is offeredto families with appropriate histories.

Patients also seen at:

MIDDLESEX HOSPITAL28 Crescent StreetMiddletown, CT 06457www.midhosp.org

GAUCHER DISEASE CENTEREstablished through the National GaucherFoundation (www.gaucherdisease.org),to work with patients and doctors indiagnosis, management and treatmentof Gaucher Disease.

GENETIC INBORN ERRORS OF METABOLISM SERVICEProvides diagnostic evaluation of meta-bolic disorders that are detected by theConnecticut State Newborn ScreeningProgram or by other evaluations.

OTHER COLLABORATIVE PROGRAMSHemophilia Huntington Disease Neurogenetics Program Neuromuscular Disorders Newborn Cystic Fibrosis Screening Program

EDUCATIONCertified residency in medical genetics;clinical electives/rotations for medical stu-dents, residents, genetic counseling stu-dents, and graduate fellows; undergradu-ate, graduate and continuing education.

PRENATAL GENETICS PROGRAMProvides information about the inheritanceof genetic conditions, the cause for variousbirth defects, and the tests available todetect whether an individual or couple isat risk have a child with such a condition.Offers tests to determine whether a preg-nancy may be affected by a birth defect orgenetic condition.

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Middlesex Hospital28 Crescent StreetMiddletown, CT 06457www.midhosp.org

OCCUPATIONAL AND ENVIRONMENTALREPRODUCTIVE HAZARDS CLINICUConn Health CenterDowling North Building, 3rd floorFarmington, CT 06032Phone: 800-325-5391 or 860-523-6419www.oehc.uchc.edu/clinser/reprohaz.htm

LABORATORY SERVICESHuman Genetics LaboratoriesUConn Health Center263 Farmington AvenueButler Building #5Farmington, CT 06030-6140Phone: 860-679-2469Fax: 860-679-3616

CONNECTICUT PREGNANCY EXPOSUREINFORMATION SERVICEPhone: 800-325-5391 or 860-523-6419Fax: 860-523-6465wwwdocdb.uchc.edu/genetics/PregnancyExposure.htm

A state-funded program that providesinformation on all types of exposuresduring pregnancy for Connecticut resi-dents or women with Connecticut physi-cians. This service is a member of TheOrganization of Teratology InformationServices. Located in West Hartford.

YALE UNIVERSITY SCHOOL OFMEDICINEDEPARTMENT OF GENETICS333 Cedar StreetNew Haven, CT 06520Phone: 203-785-2660Fax: 203-785-3404www.info.med.yale.edu/genetics

GENETIC CONSULTATION SERVICE **Diagnosis, management and genetic counseling for a broad range of heredi-tary and genetic-influenced conditions.Ongoing treatment including nutritionaltreatment, bone marrow and stem cell

transplant, pharmacological therapy, and multidisciplinary management.


Bridgeport Hospital267 Grant StreetBridgeport, CT 06610Phone: 203-384-3049www.bridgeporthospital.com

Danbury Hospital24 Hospital AvenueDanbury, CT 06810Phone: 203-797-7124www.danhosp.org

GENETIC INBORN ERRORS OFMETABOLISM SERVICEDiagnosis, management and clinical care forpatients with inborn errors of amino acid,organic acid, fatty acid metabolism andmitochondrial disorders. Newborn screeningfollow-up and assessment with rapid labora-tory assessment and collaborative manage-ment with primary care physicians. Lysosomalstorage disorders diagnosis and manage-ment. Molecular genetic testing withassessment of family members at risk.

EDUCATIONCertified residency in medical genetics,clinical electives/rotations for medicalstudents, residents, genetic counselingstudents, and graduate fellows; under-graduate, graduate and continuing education. Laboratory training in clinicalmolecular genetics, clinical biochemicalgenetics, and clinical cytogenetics.

PRENATAL SERVICEAppointment Phone: 203-785-5682Administrative & Consult line: 203-785-2661Fax: 203-785-7673

Provides a full array of prenatal genetictesting services.


Lawrence and Memorial Hospital365 Montauk AvenueNew London, CT 06320www.lmhospital.org

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Waterbury Hospital64 Robbins StreetWaterbury, CT 06721www.waterburyhospital.org

OTHER COLLABORATIVE PROGRAMS:

Craniofacial GeneticsPhone: 203-737-2049Fax: 203-785-5714

Huntington DiseasePhone: 203-785-2661Fax: 203-785-7673

Neurofibromatosis ProgramPhone: 203-785-2660Fax: 203-785-3404

Neurogenetics ClinicPhone: 203-785-4085 or 203-401-4300Fax: 203-785-5694

CANCER GENETIC COUNSELING PROGRAMYale Cancer Center55 Church StreetSuite 402New Haven, CT 06510Phone: 203-764-8400Fax: 203-764-8401www.yalecancercenter.org/genetics/


Praxair Cancer CenterDanbury Hospital24 Hospital Avenue Danbury, CT 06810www.danhosp.org

Bendheim Cancer CenterGreenwich Hospital77 Lafayette PlaceGreenwich, CT 06830www.greenhosp.org

Whittingham Cancer CenterNorwalk HospitalMaple StreetNorwalk, CT 06856www.norwalkhosp.org

LABORATORY SERVICESBiochemical Disease Detection LaboratoryYale University School of MedicineDepartment of Genetics333 Cedar StreetWWW 313P.O. Box 208005New Haven, CT 06520Phone: 203-785-2662FAX: 203-785-3535http://info.med.yale.edu/genetics/BDD/index.php

Studies include amino acid analysis, total homocysteine, organic acid analysis(GC/MS), carnitine and acylcarnitine profiles(electrospray tandem MS), screening forfatty acid oxidation disorders (urine acylglycine profile) and others.

CYTOGENETICS (INCLUDING MOLECULARCYTOGENETICS)http://info.med.yale.edu/genetics/cytogenetics/cytogenetics.php

Laboratory Director: 203-785-6317Administrative Assistant: 203-785-2146Prenatal laboratory: 203-785-5140Bone Marrow and Blood laboratory:203-785-2656Research Cytogenetics: 203-785-6523

DNA DIAGNOSTICS LABORATORYPhone: 203-785-5745Fax: 203-785-7227

Testing for fragile X syndrome, Duchenneand Becker muscular dystrophies, Gorlinsyndrome, Hemophilia A, MCAD , multipleendocrine neoplasia, and OTC.

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MAINE GENETICS PROGRAM (MGP)

Ellie Mulcahy, RNC, DirectorDivision of Family Health11 State House StationAugusta, ME 04333-0011Phone: 207-287-5357 or 1-800-698-3624Fax: 207-287-4743

The Maine Genetics Program (MGP) is astatewide program that provides grantsto agencies to assure the availability ofcomprehensive genetic services for thecitizens of Maine. Services include riskassessment, laboratory and clinical diag-nosis, counseling, case management andreferral, and education and training toproviders and consumers. The MGP alsocoordinates the Newborn Bloodspot andNewborn Hearing Screening Programs.The Newborn Bloodspot ScreeningProgram screens all newborns for 28 conditions, which if left untreated, wouldcause mental retardation, other serioushealth problems or death. The NewbornHearing Screening Program tests all new-borns for possible hearing loss. Both theNewborn Bloodspot Screening Programand the Newborn Hearing ScreeningProgram make referrals for treatmentand comprehensive follow-up care.

EASTERN MAINE MEDICALCENTER GENETICS PROGRAMSPEDIATRIC SPECIALTY CLINICS417 State StreetWebber East Suite 305Bangor, ME 04401Appointment Phone: 207-973-7559 or 1-877-366-3662 x7559 Administrative Phone: 207-973-7553 or 1-877-366-3662 x7553 http://emmc.org/Patient+Services/Child+and+Adolescent+Care+Center/default.htm

The Genetics Program provides consulta-tion and management services through anumber of specialty clinics at EMMC. TheProgram provides initial genetic evaluation,assessment and ongoing management. Inaddition to the general Genetics Clinic,the Genetics Program coordinates specialtyclinics for the following conditions:

Inborn Errors of Metabolism

Spina Bifida

Cystic Fibrosis

Cleft Lip and Palate

Hemophilia

Muscular Dystrophy

The Genetics Program also providesMedical Genetics consultations and prenatal and preconception counselingfor area physicians and women’s healthprograms, including the Maternal FetalMedicine Program at EMMC, as well asDevelopmental Evaluation Clinics.

All clients are seen regardless of ability topay for services.

In addition to clinical services, theGenetics Program offers education andtraining to health professionals andother groups throughout the state.

CANCERCARE OF MAINE417 State Street, Suite 20Bangor, ME 04401-6600Phone: 207- 973-7476 or 1-800-987-3005

The Cancer Risk Counseling Clinic provides assessment for individuals andfamilies at risk for a variety of hereditarycancer syndromes. Genetic testingoptions, screening and preventativestrategies are reviewed. An oncologist isavailable for consultation.

MAINE MEDICAL CENTER, THEDIVISION OF GENETICS AT THEBARBARA BUSH CHILDREN SHOSPITAL

MAINE PEDIATRIC SPECIALTY GROUP ANDENDOCRINOLOGY 887 Congress Street, Suite 320Portland, ME 04102Phone: 207-662-5522 or 1-800-860-6277Fax: 207-662-5528 http://www.mmc.org/mmc_bush/clini-cal_services_prog_genetics.htm

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The Division of Genetics at the BarbaraBush Children’s Hospital provides Geneticsservices for individuals from primarilysouthern Maine and New Hampshire.Consultative and management servicesinclude dysmorphology evaluations, ongo-ing management of complex medical carefor individuals with known diagnoses;family risk assessment; provision of genetictesting,; genetic counseling; evaluation,diagnosis and management of inbornerrors of metabolism; enzyme replace-ment therapy services for lysosomal stor-age diseases; and prenatal consultationsin complex cases. The Division of Geneticsalso provides essential education to primary care physicians and other sub-specialists at MMC, as well as throughoutthe states of Maine and New Hampshire.

The Division is also responsible for theBarbara Bush Children’s HospitalMetabolism Program and providessupport for the Southern Maine Cleft Lip

and Palate Program, the Cystic FibrosisClinic, the Hemophilia Clinic, the MaineChildren’s Cancer Program and the SpinaBifida Program. Medical Genetics consultations are also provided to theDivision of Maternal Fetal Medicine atMMC and the Genetics staff at the MaineCenter for Cancer Medicine.

All clients are seen regardless of ability topay for services.

MAINE MEDICAL CENTER, DIVISIONOF THE CANCER GENETICS PROGRAMCANCER RISK AND PREVENTION CLINICAT MAINE MEDICAL CENTER100 US Route 1Scarborough, ME 04074Phone: 207-885-7787Fax: 207-885-8500http://www.mmc.org/mmc_services/mainecenterforcancermedicine.htm

The Cancer Risk and Prevention Clinicprovides a family history evaluation andgenetic risk assessment for individualsand families primarily in Southern Maineand New Hampshire. A visit includes areview of an individual’s personal and/orfamily history of cancer in order to evaluate

possible hereditary cancer susceptibilitydisorders (HCSDs). The genetic counselorexplains genetics, inheritance, geneticsyndrome differentials, available testing,possible testing outcomes, and researchpossibilities. A visit continues with thephysician who provides a personalizedrisk assessment. While direct patient careis the main focus, the Cancer GeneticsProgram also provides essential servicesand education to primary care physiciansand other subspecialists at MMC, as wellas throughout the states of Maine andNew Hampshire.

OTHER RELATED SERVICES WITH AGENETIC COMPONENT

CHILDREN WITH SPECIAL HEALTH CARENEEDS PROGRAM, (CSHN)Toni Wall, MPA, DirectorDivision of Family Health11 State House StationAugusta, Maine 04333Phone 207-287-5139 or 1-800-698-3624.http://www.maine.gov/dhhs/boh/cshn

The Children with Special Health NeedsProgram (CSHN) serves children who havea serious physical condition(s) that requiresextensive health and related services.

Chronic physical conditions that are covered by the CSHN Program include,but are not limited to, the following:asthma and other respiratory disorders,blood disorders, cardiac disorders, child-hood cancer, chronic ear infections, cleft

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lip and/or cleft palate, other craniofacialanomalies, cystic fibrosis, developmentaldelays, diabetes and other endocrine disorders, gastrointestinal disorders, genitourinary disorders, juvenile arthritis,orthopedic disorders, PKU and otherinborn errors of metabolism, seizure disorders, skin disorders, spina bifida, andvision disorders.

The Program pays for diagnosis and med-ical care for children who meet the med-ical and income guidelines.

In addition, the Program supports and/oradministers the following clinics:

Developmental Evaluation Clinics areavailable at Cary Medical Center, EasternMaine Medical Center, MaineGeneralMedical Center in Waterville, and TheChild Health Center in Auburn.

Maine Cleft Lip and Palate Clinic is sup-ported and administered by CSHN Programin two regional sites: Bangor and Portland.

MAINE MEDICAL CENTER,HEMOPHILIA TREATMENT CENTERMaine Children’s Cancer Program100 U.S. Route OneScarborough, ME 04074Phone: 207-885-7565Fax: 207-885-7577

Maine Medical Center provides compre-hensive clinical services to individualswith hemophilia and other coagulationdisorders. Genetic counseling servicesand coordination of DNA analysis for carrier testing and prenatal diagnosis arearranged when indicated.

THE FOUNDATION FOR BLOODRESEARCHDivision of Genetics8 Nonesuch RoadScarborough, Maine 04074Phone: 207-883-4131 Fax: 207-885-0807www.fbr.org/genetics/genetics.html

The Division of Genetics at theFoundation for Blood Research (FBR)focuses on the integration of geneticsinto public health and private healthcaresystems in Maine. Immediately availableto primary and allied healthcare person-nel are CME/CEU lectures and presenta-tions offered either in person or via interactive TV (telemedicine), as well as publications.

The molecular diagnostic laboratory isinvolved in research to test the feasibilityof DNA-based population screening pro-tocols for genetic disorders such as cysticfibrosis and hereditary hemochromatosis.

PREGNANCY ENVIRONMENTALHOTLINE:Phone: 781-466-8474 or 800-322-5041 (in MA)(also serves MA, NH and RI)

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MASSACUSETTS DEPARTMENT OFPUBLIC HEALTHOffice of Genomics and Health250 Washington Street, 4th floorBoston, MA 02108Phone: 617-624-5070

The Massachusetts Genetics Program(MGP) is based within the Office onHealth and Disability of the MassachusettsDepartment of Public Health. The MGPaims to inform consumers and profes-sionals about medical and scientificdevelopments in human genetics andassociated ethical, legal and social issuesthat affect infants, children, adolescentsand adults. The MGP strives to ensurethat all individuals have access to cultur-ally and linguistically appropriate, family-centered genetics services.

BAYSTATE MEDICAL CENTER759 Chestnut StreetSpringfield, MA 01199

CLINICAL AND REPRODUCTIVE GENETICS Department of Obstetrics and GynecologyAdministrative Phone: 413-794-8890Appointment Phone: 413-794-2222Fax: 413-794-1666Services: Prenatal, Pediatric, Adult,Cancer Genetics

The Genetics program at Baystate MedicalCenter offers comprehensive clinicalgenetics care, laboratory services andeducation for patients and healthcareprofessionals.

The clinical program includes servicesacross the lifespan including prenatal andpreconception assessment, pediatric andadult evaluations, and cancer risk assess-ment consultations.

Genetic laboratory services at BaystateMedical Center include cytogenetics,maternal serum screening, and moleculardiagnostics.

BETH ISRAEL DEACONESS HOSPITAL330 Brookline AvenueBoston, MA 02115

Clinical Genetics ProgramPhone: 617-667-7110Fax: 617-667-1551Services: Prenatal diagnosis

Cancer Risk Assessment ProgramPhone: 617-667-1905Fax: 617-667-1551

BOSTON UNIVERSITY MEDICALCENTER715 Albany StreetW-4th FloorBoston, MA 02118(Mailing address)

THE CENTER FOR HUMAN GENETICS700 Albany StreetBuilding CABR, Suite 408Boston, MA 02118(Clinical Site)Phone: 617-638-7083Fax: 617-638-7092Services: Prenatal, pediatric, adult genetics;cytogenetic, biochemical, maternal serumscreening, and molecular testinghttp://www.bumc.bu.edu/hg

BOSTON COMPREHENSIVE SICKLE CELLCENTER820 Harrison Ave., FGH 2nd FloorBoston, MA 02118Phone: 617-414-5727Fax: 617-414-5739Services: Testing, counseling for sickle cell anemia and other hemoglobinopathies, education, research

CENTER OF EXCELLENCE IN SICKLE CELLDISEASE88 East Newton StreetEvans 248Boston, MA 02118Phone: 617-414-1020Fax: 617-414-1021www.bu.edu/sicklecell

Services: Research studies involving sicklecell anemia and other hemoglobinopathies

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BRIGHAM & WOMEN S HOSPITAL75 Francis StreetBoston, MA 02115

CENTER FOR FETAL MEDICINE ANDPRENATAL GENETICSPhone: 617-732-4208Fax: 617-264-6310http://www.brighamandwomens.org/mfm/center4fetalgeneticshome.asp

The center focuses on the diagnosis andtreatment of fetal disease with a compre-hensive genetic counseling service, a fetaltreatment program, and expansion ofpre-implantation genetic diagnosis.

OUTREACH CLINICS:

Newton Wellesley HospitalMaternal Fetal Medicine2014 Washington StreetNewton, MA 02462Phone: 617-243-5909Fax: 617-243-5775

Women’s Health CenterOne Hutchinson Drive Danvers, MA 01923Phone: 978-739-6900Fax: 978-774-9635

Exeter HospitalMillbrook Office Park 118 Portsmouth Avenue, Suite 102Stratham, NH 03885Phone: 603-777-5002Fax: 603-778-9290

CHILDREN S HOSPITAL BOSTON300 Longwood AvenueBoston, MA 02115

CLINICAL GENETICS AND METABOLISMPhone: 617-355-6394 or 617-355-4695Fax: 617-730-0466http://www.childrenshospital.org

The Division of Genetics at Children'sHospital Boston offers state-of-the-artdiagnostic and clinical management forchildren, adolescents, and adults withgenetic conditions, including inbornerrors of metabolism. Patients are evaluatedby a multi-disciplinary team of physicians,nurses and counselors who specialize ingenetics, syndrome identification, metabolicdisease, and birth defects.

OUTREACH SITES:

South Shore Hospital851 Main StreetWeymouth, MA 02190Phone: 781-331-4715Fax: 781-335-5628

Lexington Medical Center482 Bedford StreetLexington, MA 02420Phone: 781-672-2100Fax: 781-672-2145

OTHER SERVICES:

Cardiovascular GeneticsPhone: 617-355-2079Fax: 617-739-3784Services: Evaluation for cardiac birth defectsand inherited cardiac malformations

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DANA- FARBER CANCER

INSTITUTE44 Binney StreetBoston, MA 02115

CANCER RISK AND PREVENTIONPhone: 617- 632-2178 Fax: 617-632-6811www.dana-farber.org/pat/cancer/

A team of specialists combines the latestmedical and scientific knowledge withthe most advanced surveillance, diagnostic,and prevention methods. Provides thor-ough evaluation and risk assessment,including genetic testing for cancer sus-ceptibility, and educates patients aboutcancer risk and its implications for them-selves and family members.

HARVARD VANGUARD MEDICALASSOCIATES133 Brookline AvenueBoston, MA 02215

GENETICS DEPARTMENTPhone: 617-421-3320Fax: 617-421-2989www.harvardvanguard.orgServices: Prenatal, Pediatric, Adult andCancer Genetics

MASSACHUSETTS GENERAL HOSPITALWarren 80155 Fruit StreetBoston, MA 02114-2696www.hpcgg.org/LMM/

GENETICS & TERATOLOGY UNITPhone: 617-726-1742Fax: 617-724-1911Services: pediatric, prenatal counseling,adult genetics

CENTER FOR CANCER RISK ANALYSIS55 Fruit StreetBoston, MA 02114 Phone: 617-724-1971Fax: 617-726-9418

PARTNERS CENTER FOR HUMAN GENETICSAND GENOMICSAdministrative Office:Simches Research CenterRoom 2222185 Cambridge StreetBoston, MA 02114

Clinical Office:Yawkey Center for Outpatient Care6th Floor 6C55 Fruit StreetBoston, MA 02114Phone: 617-726-1561 Fax: 617-726-1566Services: Pediatric and adult genetics

DEVELOPMENTAL NEUROGENETICSAdministrative Office:CRP Building North5th Floor Suite 5240185 Cambridge StreetBoston, MA 02114

Clinical Office:Yawkey Center for Outpatient Care6th Floor 6B55 Fruit StreetBoston, MA 02114Phone: 617-726-5732Fax: 617-724-9620Services: Evaluation and testing for neuro-genetic disorders, including Fabry disease,Gaucher disease and mitochondrial disorders

NATIONAL BIRTH DEFECTS CENTER40 Second Avenue, Suite 520Waltham, MA 02451Phone: 781-466-9555Fax: 781-487-2361www.thegenesisfund.orgServices: Diagnostic evaluation and test-ing, prenatal counseling

PREGNANCY ENVIRONMENTAL HOTLINE:Phone: 781-466-8474 or 800-322-5041 (in MA)(also serves ME, NH and RI)

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NEW ENGLAND MEDICAL CENTER750 Washington StreetBoston, MA 02111

CLINICAL GENETICS & METABOLISMSERVICES AT FLOATING HOSPITAL FORCHILDRENPhone: 617-636-5462Fax: 617-636-0745www.tufts-nemc.org/home/departments/pedi/pedgen.htmServices: Pediatric genetic evaluation

OUTREACH SITES:

Worcester Medical CenterLaurie Demmer, MDPhone: 617-636-7790

St. Anne s HospitalJodi Hoffman, MDFall River, MAPhone: 508-235-5285

CENTER FOR PERINATAL DIAGNOSISPhone: 617-636-4277Fax: 617-636-4273

OUTREACH SITES:

Lowell General HospitalMaternal-Fetal Medicine Department295 Varnum AvenueLowell, MA 01854Phone: 978-937-6000Fax: 978-937-6809

Lawrence General HospitalMaternal-Fetal Medicine Department46 Prospect StreetLawrence, MA 01841Phone: 978-683-4000 x 2901Fax: 978-946-8184

South Shore HospitalMaternal-Fetal Medicine Department55 Fogg RoadSouth Weymouth, MA 02190Phone: 781-340-8430Fax: 781-340-4344

MetroWest Medical CenterMaternal-Fetal Medicine Department115 Lincoln StreetFramingham, MA 01702Phone: 508-383-1436Fax: 508-383-1497

Melrose/Wakefield OfficeMaternal-Fetal Medicine Department,Perinatal Diagnosis50 Rowe Street Suite 700Melrose, MA 02176Phone: 781-662-4688Fax: 781-662-5394

WomenÕs Medical Arts Building, 3rd floorMaternal-Fetal Medicine Department85 Herrick StreetBeverly, MA 01915Phone: 978-922-3000 x 4010

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UNIVERSITY OF MASSACHUSETTSMEMORIAL MEDICAL CENTER55 Lake Avenue NorthWorcester, MA 01605

GENETICS CLINICPhone: 508-856-3949Appointment Phone: 508-856-5695Fax: 508-334-3525Services: Prenatal, pediatric, cancer andadult genetic counseling

This program provides comprehensiveservices including diagnosis and manage-ment of patients with congenital malfor-mations, genetic syndromes, chromosomaldisorders and inborn errors of metabolism.Diagnostic evaluation of children withdevelopmental delay and mental retarda-tion is available. In addition, geneticcounseling is provided for individuals,couples and families who may be at a riskfor inherited diseases. Specific diagnostic,carrier, and/or prenatal testing isarranged as indicated.

Providers work closely with theCytogenetics and Molecular DiagnosticLaboratories in the Department ofPathology at the University ofMassachusetts Medical Center. Closealliance is also shared with the depart-ments of Neonatology and PerinatalMedicine at the Medical Center ofCentral Massachusetts.

OUTREACH SITES:

Milford-Whitinsville Regional Hospital Women’s Pavilion14 Prospect StreetMilford, MA 01757Phone: 508-473-1190 x 2859Fax: 508-473-1257

Health Alliance Hospital60 Hospital RoadLeominster, MA 01453Phone: 978-466-2660

VIII.G E N E T I C S E R V I C E S : N E W H A M P S H I R E

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NEW HAMPSHIRE DEPARTMENTOF HEALTHNewborn Screening ProgramMarcia Lavochkin, RN BSNProgram Coordinator29 Hazen DriveConcord, NH 03301Phone: 603-271-4225 Fax: 603-271-4519 www.dhhs.state.nh.us orwww.nh.gov

The Newborn Screening Program monitorsthe blood screening of all infants born inNH for potentially serious disorders andensures immediate follow-up on abnormalresult.

DARTMOUTH- HITCHCOCKMEDICAL CENTEROne Medical Center DriveLebanon, NH 03756

Medical Genetics Clinic: 603-653-6044Prenatal Diagnosis Program: 603-653-6025Neurometabolism Program: 603-653-9668Familial Cancer Program: 603-653-3541or 800-639-6918Fax: 603-653-3585http://www.dhmc.org/webpage.cfm?site_id=2&org_id=136&gsec_id=0&sec_id=0&item_id=3692

ELLIOTT HOSPITAL275 Mammoth RoadSuite OneManchester, NH 03109 Phone: 603-663-8611Fax: 603-668-0164www.elliothospital.org/services/genetic_counseling.html

Services include cancer genetic counseling,prenatal genetic counseling, pediatric andadult genetic counseling on a limited basis.

PREGNANCY ENVIRONMENTALHOTLINE:Phone: 781-466-8474 or 800-322-5041 (in MA)(also serves MA, ME and RI)

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PREGNANCY ENVIRONMENTALHOTLINE:Phone: 781-466-8474 or 800-322-5041 (in MA)(also serves ME, NH and RI)

RHODE ISLAND DEPARTMENT OFHEALTHNEWBORN SCREENING PROGRAMS3 Capitol Hill, Room 302Providence, RI 02908-5097Ellen Amore, MS, Newborn ScreeningProgram ManagerPhone: 401-222-4601Family Health Information Line 1-800-942-7434www.health.ri.gov/genetics/newborn.php

The Rhode Island Department of Health(HEALTH) has integrated genetics intomany different programs. The departmenthas two Genetics Committees. Informationis available at http://www.health.ri.gov/genetics/committees.php

Genetics Core Team — Includes representa-tives from a wide variety of programs involv-ing genetics. The team coordinates imple-mentation of the State Genetics Plan.

Genetics Advisory Committee — Meetsquarterly to advise the Director of HEALTHon genetic issues.

RHODE ISLAND HOSPITAL ANDHASBRO CHILDREN S HOSPITAL593 Eddy StreetProvidence, RI 02903

GENETIC COUNSELING CENTER Phone: 401-444-8361Fax: 401-444-3288www.lifespan.org

Provides genetic counseling and diagnosticservices for children, adults and familieswith genetic disorders or birth defects.Genetic counseling for hereditary cancerfamilies and cancer risk assessment is provided in collaboration with theComprehensive Cancer Center at RhodeIsland Hospital.

CENTER FOR SPECIAL CHILDREN (CSC)Phone: 401-444-5685Fax: 401-444-6115

The Center for Special Children (CSC) atHasbro Children’s Hospital is a site for the evaluation and treatment of childrenwith neurological, developmental, behav-ioral, metabolic, and genetic disorders.

Specialty providers include Child Neurology,Developmental/Behavioral Pediatrics,Genetics, Metabolic Disorders, Neuro-surgery, Neuro-rehabilitation,Orthopedics,Urology, and Psychology. Providers workin collaboration with occupational, physi-cal and speech therapists, as well as socialworkers and parent consultants.

CYSTIC FIBROSIS CENTERPhone: 401-793-8560Fax: 401-793-8561

SICKLE CELL AND HEMATOLOGICALDISORDERSPhone: 401-444-5241Fax: 401-444-3872

PEDIATRIC ENDOCRINOLOGY ANDMETABOLISMPhone: 401-444-5504Fax: 401-444-2534

WOMEN AND INFANTS HOSPITALPRENATAL DIAGNOSIS CENTER79 Plain StreetProvidence, RI 02903Phone: 401-453-7510Fax: 401-453-7517http://www.womenandinfants.com/body.cfm?id=92&action=detail&ref=44

The Prenatal Diagnosis Center providesgenetic counseling before conceptionand during pregnancy as well as screen-ing and diagnostic testing during preg-nancy. Genetic counselors, nurses andphysicians staff the center. Satellite clinics are located at South CountyHospital (Wakefield, RI), CharltonMemorial Hospital (Fall River, MA), andNew Bedford, MA.

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PROGRAM IN WOMENÕS ONCOLOGY101 Dudley StreetProvidence, RI 02905Phone: 401-453-7540Fax: 401-453-7785http://www.womenandinfants.com/body.cfm?id=187

Provides cancer risk assessment and pre-vention counseling at Women and InfantsHospital, Kent Hospital, Westerly Hospitaland in New London, Connecticut. Patientsreceive a comprehensive analysis of theircancer risk based upon medical, familial,and lifestyle factors. A personal approachto cancer prevention may include recom-mendations for medical screenings,lifestyle modifications, genetic testingand chemopreventive strategies.


NEW LONDON CLINIC:Phone: 860-439-1770Fax: 860-447-2854

G E N E T I C S E R V I C E S : V E R M O N T

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VERMONT DEPARTMENT OF HEALTHNewborn Screening and UniversalNewborn Hearing Screening Children with Special Health Needs (CSHN)P.O. Box 70108 Cherry StreetBurlington, VT 05402Newborn Screening Phone: 802-951-5180Universal Newborn Hearing ScreeningPhone: 802-865-1330Consumer Scholarships Phone: 802-863-7338Fax: 802-951-1218 http://www.healthyvermonters.info/hi/cshn

CSHN also has clinic services including:cardiology, child development, craniofacial/cleft lip and palate, cystic fibrosis, epilepsyand neurology, hand structure and function,hearing outreach program, hemophilia,juvenile rheumatoid arthritis, metabolic,muscular dystrophy, myelomeningocele,orthopedics, and rhizotomy (cerebral palsy).

THE VERMONT REGIONALGENETICS CENTER112 Colchester AvenueBurlington, VT 05401Phone: 802-847-4310Fax: 802-847-4664

Offers prenatal, pediatric, adult and cancergenetic counseling and testing, as well as afree teratogen information service.

VERMONT PREGNANCY RISKINFORMATIONPhone: 800-932-4609

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