The 3rd Annual Isabelle Rapin Conference on Communication Disorders

RETT SYNDROME

Wednesday, December 10, 20148:30 a.m. to 3:30 p.m.

Albert Einstein College of Medicine Price Center/Block Research PavilionLeFrak Auditorium1301 Morris Park AvenueBronx, NY 10461

Directions: www.einstein.yu.edu/visitors/ Register on line at www.mecme.org

Presented by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) and The Tri-State Center for Rett Syndrome

SYMPOSIUM MISSIONEach year, the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) at Albert Einstein College of Medicine hosts its annual Isabelle Rapin Conference on Communication Disorders. The symposium focuses on specific communication disorders as they relate to a particular de-velopmental disorder, and this year, Rett syndrome (RTT) will be explored, with speakers discussing recent advances in translational research and therapeutic approaches to enhance communication and common comorbidities specific to patients with RTT, which can include gastro-intestinal (GI) issues, dysphagia, sco-liosis and overall bone health.

Target Audience: The target audience for this live activity is: basic scientists, clinical investigators, clini-cians, neurologists, orthopedists, gastroenterologists, pediatricians, general practitioners, therapists, and all allied health professionals who treat or are interested in RTT.

Activity Goals: This program will address up-to-date scientific discoveries and the potential impact of these findings on patient treatment and management.

Learning Objectives: The objectives of this program are to: review the criteria for Rett syndrome diag-nosis; discuss novel scientific research discoveries and their potential translational applications; examine the benefits of new communication strategies as a means of improving patient quality of life; and assess a va-riety of treatments for common comorbidities that include GI issues, dysphagia, scoliosis and bone health.

Accreditation: Albert Einstein College of Medicine of Yeshiva University is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Albert Einstein College of Medicine of Yeshiva University designates this live activity for a maximum of 5 AMA PRA Category 1 Credit(s)TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Conflict of Interest Statement: The “Conflict of Interest Disclosure Policy” of Albert Einstein College of Medicine and Montefiore Medical Center require that faculty participating in any CME activity disclose to the audience any relationship(s) with a pharmaceutical, product, or device company. Any presenter whose disclosed relationships prove to create a conflict of interest with regard to their contribution to the activity will not be permitted to present.

Albert Einstein College of Medicine and Montefiore Medical Center also require that faculty participating in any CME activity disclose to the audience when discussing any unlabeled or investigational use of any commercial product or device, not yet approved in the United States.

The staff members of CCME at Albert Einstein College of Medicine and Montefiore Medical Center have no conflicts of interest with commercial interests related directly or indirectly to this educational activity.

The following reported no conflict of interest: Suzanne Abraham, Ph.D.; Chhavi Agarwal, M.D.; Michael Brenowitz, Ph.D.; Monica Coenraads, M.B.A.; John Foxe, Ph.D.; Michael Green, M.D., Ph.D.; Anthony Loizides, M.D.; Elaine Williams, M.A., CCC-SLP; and Huda Zoghbi, M.D.

Aleksandra Djukic, M.D., Ph.D., is a consultant for Astra Zeneca. Aristea Galanopoulou, M.D., Ph.D., receives grant/research support from UCB, serves as a consultant for ViroPharma and receives publication royalties from Elsevier, Morgan & Claypool. Steven Walkley, D.V.M., Ph.D., is a consultant with AngioChem. Vishal Sarwahi, M.D., is a consultant with DePuy and Medtronic, and receives grant funding from both.

Unlabeled/Investigational Discussion: Dr. Aristea Galanopoulou, M.D., Ph.D., may discuss preclinical (animal) data on the use of diuretics that modify the action of GABAA receptors in Rett syndrome or develop-mental epilepsies.

Peer Reviewer: Victor B. Hatcher, Ph.D., reported no conflict of interest.

Credit Issued by: Albert Einstein College of Medicine of Yeshiva University

Sponsored by: Albert Einstein College of Medicine of Yeshiva University and Montefiore Medical Center

CME REQUIREMENTS

8:30 – 9:15 a.m. CONTINENTAL BREAKFAST (available in lower atrium)

9:15 – 9:20 a.m. WELCOME AND OPENING REMARKS Steven Walkley, D.V.M., Ph.D. Albert Einstein College of Medicine

9:20 – 9:40 a.m. “Rett Syndrome: A Parent’s Perspective” Monica Coenraads, M.B.A. Rett Syndrome Research Trust (RSRT)

9:40 – 10:25 a.m. “The Story of Rett Syndrome and the Insight It Provides into Neuropsychiatric Disorders” Huda Zoghbi, M.D. Baylor College of Medicine

10:25 –10:45 a.m. “Rett Syndrome Center at Montefiore/Einstein: Clinical Practices and Research” Aleksandra Djukic, M.D., Ph.D. Albert Einstein College of Medicine/Montefiore Medical Center

10:45 – 11:00 a.m. COFFEE BREAK (available in lower atrium)

11:00 –11:20 a.m. “Electrophysiological Assays of Auditory Processing in Rett Syndrome” John Foxe, Ph.D. Albert Einstein College of Medicine

11:20 – 12:05 p.m. “Genetic and Pharmacological Reactivation of the Mammalian Inactive X Chromosome” Michael Green, M.D., Ph.D. University of Massachusetts

12:05 – 12:25 p.m. “MeCP2 Surprises” Michael Brenowitz, Ph.D. Albert Einstein College of Medicine

12:25 – 12:45 p.m. “GABA, Chloride- and Development: Implications for Rett Syndrome” Aristea Galanopoulou, M.D., Ph.D. Albert Einstein College of Medicine

12:45 – 1:45 p.m. LUNCH (available in lower atrium)

1:45 – 3:30 p.m. CLINICAL SESSIONS Bone Health in Rett Syndrome Chhavi Agarwal, M.D. Albert Einstein College of Medicine/Montefiore Medical Center GI Issues in Rett Syndrome Anthony Loizides, M.D. Albert Einstein College of Medicine/Montefiore Medical Center Classical Rett Syndrome: Post Regression Dysphagia in Early Childhood Susan Abraham, Ph.D. New York University, Winthrop University Hospital Management of Scoliosis in RTT Vishal Sarwahi, M.D. Albert Einstein College of Medicine/Montefiore Medical Center Effective Communication Strategies Aleksandra Djukic, M.D., Ph.D., and Elaine Williams, M.A., CCC-SLP Albert Einstein College of Medicine/Montefiore Medical Center

PROGRAM

GUEST LECTURERS

Monica Coenraads, M.B.A., is co-founder and executive director of the Rett Syndrome Research Trust (RSRT), an organization that has been dedicated, since 2008, to the stimulation of scientific interest and research in Rett Syndrome. The RSRT was an outgrowth of an earlier organization co-founded by Ms. Coenraads in 1999, called the Rett Syndrome Research Foundation (RSRF). To date, under Ms. Coenraads leadership $36 million has been raised for Rett Syndrome/MeCP2 research through RSRF and RSRT. In 2010, Ms. Coenraads was also instrumental in co-founding the Rett Syndrome

Research Trust UK (now called Reverse Rett), which continues the RSRT mission overseas. Also part of her commitment, Ms. Coenraads is advisor to the Tri-State Rett Syndrome Center at the Children’s Hospital at Montefiore Medical Center, a member of the Advisory board of SFARI.org, a member of the Advisory Council for The Research Acceleration and Innovation Network (TRAIN) of FasterCures, a founding trustee of the American Brain Coalition, and the mother of a daughter who was diagnosed with the disorder in 1998.

Huda Zoghbi, M.D., is professor of pediatrics, neurology, neuroscience, and molecular and human genetics at Baylor College of Medicine, an investigator with the Howard Hughes Medical Institute, and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital. Her in-terest, and the focus of her lab, is currently in understanding healthy brain de-velopment, using genetic, behavioral and cell biological approaches to study normal neurodevelopment and to explore the pathogenesis of Rett syn-drome and polyglutamine neurodegenerative diseases. Dr. Zoghbi has pub-

lished seminal work on the molecular basis of Rett syndrome and on late-onset neurodegenera-tive diseases. She is a member of the McKnight Foundation Neuroscience Board, among others. In 2000, 2004, and 2014, she was elected to the Institute of Medicine, to the National Academy of Sciences and to the Lebanese National Academy of Sciences, respectively. Among Dr. Zoghbi’s honors are the E. Mead Johnson Award from the Society of Pediatric Research, the IPSEN Prize in Neuronal Plasticity, the Bristol Myers-Squibb Neuroscience Distinguished Achievement Award, the Vilcek Prize, the Gruber Prize in Neuroscience, the Dickson Prize in Medicine, the Pearl Meister Greengard Prize, and the 2014 March of Dimes Prize in Developmental Biology.

Michael Green, M.D., Ph.D., is the Lambi and Sarah Adams chair in genet-ic research at the University of Massachusetts Medical School and was the director of the program of gene function and expression from 1999 to 2014. Dr. Green received his M.D. and Ph.D. from Washington University School of Medicine in 1981. He was awarded a Helen Hay Whitney Postdoctoral Fellowship to perform postdoctoral work at Harvard University in the de-partment of biochemistry and molecular biology. Dr. Green became a faculty member in that department at Harvard in 1984, where he remained until he

joined the Program in Molecular Medicine at the University of Massachusetts Medical School in 1990. Dr. Green has been the recipient of the Searle Scholar Award, the Presidential Young Investigators Award, the McKnight Neuroscience Award and, in 1993, was a Harvey Society Lecturer. In 1994, Dr. Green was made an investigator of the Howard Hughes Medical Institute, and was elected member of the National Academy of Sciences and an associate member of EMBO.

FACULTY

Suzanne Abraham, Ph.D., is adjunct associate professor of communica-tion sciences and disorders at New York University and holds a staff po-sition at Winthrop University Hospital in Mineola, NY. She serves on the International Expert Panel for the Management of Gastroenterological Issues in Rett Syndrome at the Institute of Child Health Research, in Australia. Her specialty areas are dysphagia and tracheostomy in young pediatric patients, and her research interests include tracheostomized and airway babies, endo-scopic and robotic supraglottic laryngectomy, Rett Syndrome/MECP2 muta-

tions, and fluororadiographic analysis of neurophysiologic and structural abnormalities. Founder of the Little Tykes with Trachs Program at Montefiore Medical Center, Dr. Abraham is recognized in the field of speech pathology for developing tracheostomy in infants and very young children as a specialty area of practice. She received her degrees from Penn State University, and has served on the faculty at University of Arkansas, Columbia University Teachers College and Albert Einstein College of Medicine.

Chhavi Agarwal, M.D., is a pediatric endocrinologist with affiliation to the Children’s Hospital at Montefiore. Dr. Agarwal’s research interests include the effects of obesity and insulin resistance on cardiovascular health in chil-dren and adolescents, with a goal to identify groups at higher risk for insulin resistance, type 2 diabetes and cardiovascular disease. She also serves as ex-pert consultant for the International Rett Syndrome Foundation. Dr. Agarwal graduated from Jawaharlal Nehru Medical College, in India, and completed residencies at the Jawaharlal Nehru Medical College Hospital and at Flushing

Hospital Medical Center, in Queens, NY. She then completed a fellowship in endocrinology at Columbia Presbyterian Medical Center. In addition, she also successfully completed the Clinical Research Training Program with distinction at Albert Einstein College of Medicine.

Michael Brenowitz, Ph.D., is a physical biochemist whose research in-terests embrace protein and nucleic acid structure, folding, interaction and function. He is applying the approaches used by his laboratory to study the protein–DNA interactions of sequence specific gene transcription fac-tors to the recognition of epigenetic modifications by proteins involved in neuronal function and development. The goal of his present studies is to determine how different epigenetic marks are discriminated and the rela-tionship between DNA binding and the addition interactions that ultimately

confer biological regulation. Dr. Brenowitz majored in biology as an undergraduate at Wesleyan University, received his Ph.D. in biochemistry from Duke University and studied physical bio-chemistry as a postdoctoral researcher at The Johns Hopkins University. He joined the Einstein faculty in 1987 as a member of the department of biochemistry in which he presently holds the rank of professor. In addition to his research program, Dr. Brenowitz is involved in both graduate and medical education.

FACULTY

Aleksandra Djukic, M.D., Ph.D., is professor of neurology at Albert Einstein College of Medicine and director of the Tri-State Center for Rett Syndrome at Montefiore Medical Center —the only of its kind in the area. Dr. Djukic completed her neurology residency at Einstein. With a Ph.D. in neuropsychology, she is especially qualified for evaluating and treating chil-dren with learning disabilities, addressing both cognitive and neurological problems in children with a variety of hereditary neurological diseases as well as babies with neonatal neurological problems. She is also a member

of the International Consortium for Rett Syndrome “RettSearch,” leader of the working group for development of treatment guidelines for Rett syndrome, member of the international committee for the research of biomarkers in Rett syndrome and member of the international committee for the research of the outcome measures in Rett syndrome. Dr. Djukic is member of RE-TT (Rett Education-Transforming Teaching), a group that actively addresses educational issues and provides support to families.

John Foxe, Ph.D., is professor of pediatrics and neuroscience, and re-search director of the Children’s Evaluation and Rehabilitation Center at Albert Einstein College of Medicine. He is also associate director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center. Dr. Foxe has a long history of funding from NIH and NSF in the basic science of multisensory processing and attentional deployment. He has worked extensively with various clinical populations that include pa-tients with Rett Syndrome. His work in schizophrenia has focused on the

search for electrophysiological endophenotypes with the aim of establishing early-detection mechanisms during the prodromal phase of this neurodevelopmental disorder. Dr. Foxe’s recent work has focused on understanding the neurobiology of autism and related commu-nication disorders, including Rett syndrome and Niemann-Pick C. His laboratory at Einstein helps to facilitate his multi-pronged approach for investigating the neurobiology and genetic underpinnings of developmental disorders.

Aristea Galanopoulou, M.D., Ph.D., is professor of neurology and asso-ciate professor of neuroscience at Albert Einstein College of Medicine. She is also a clinical epileptologist and research director at the Tri-State Center for Rett Syndrome at Montefiore Medical Center. Dr. Galanopoulou re-ceived her medical degree from the Medical School of Athens in Greece and her doctoral degree from McGill University in Montreal. She com-pleted a neurology residency and a clinical neurophysiology fellowship at Einstein. The focus of her research is the role of GABAA receptor sig-

naling and chloride homeostasis in normal brain development and in early life epileptic and neurodevelopmental syndromes, as well as the development of new therapies for catastrophic epileptic syndromes, such as infantile spasms, using novel animal models of infantile spasms. Dr. Galanopoulou has been member or co-chair of several national and international commit-tees and task forces that aim to optimize the quality and translatability of preclinical epilepsy research and therapy development, or that promote educational basic science initiatives. Her research has been funded by federal and other organizations, including NINDS, Department of Defense, CURE, IRSF, RSRF and PACE.

FACULTY

Vishal Sarwahi, M.D. , is chief of scoliosis surgery at Montefiore Medical Center and specializes in the surgical treatment of scoliosis, kyphosis, spon-dylolisthesis neuromuscular scoliosis and Rett syndrome scoliosis, with a particular focus on children, adolescents, and young adults. Currently, he is in the process of perfecting a pioneering and minimally invasive surgi-cal approach aimed at adolescent patients which utilizes smaller incisions. Dr. Sarwahi is involved in multiple scoliosis-related research projects, and is a member of the Scoliosis Research Society. Dr. Sarwahi received his med-

ical training at the University of Bombay and completed his residency at King Edward the VII Memorial Hospital for Children. He was awarded the Edwin Warner Ryerson Fellowship in Pediatric Orthopedics at Northwestern University’s McGraw Medical Center in Chicago. He then completed a fellowship in spine deformity at the Hospital for Special Surgery at Cornell University, in New York, before coming to Montefiore Medical Center.

Steven Walkley, D.M.V., Ph.D., is professor of neuroscience, pathol-ogy and neurology and director of the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center at the Albert Einstein College of Medicine. His research interests began during his early training in com-parative medicine and neuroscience and involved animal models of GM1 and GM2 gangliosidosis (Sandhoff disease). His laboratory today is focused on defining the pathogenesis of numerous endosomal-lysosomal system disor-ders including Niemann-Pick types A and C, the gangliosidoses, Farber, MLIV,

MPS IIIA and the NCLs, as well as the recently discovered endosomal disease, Christianson syndrome. Of particular focus are disease-induced changes in endocytic, autophagic and salvage pathways and their impact on dendritic and axonal integrity and the neuronal connectome. Dr. Walkley’s lab has also been in the forefront of therapy development for lysosomal disor-ders, including the first and presently only approved therapy for Niemann-Pick type C disease. Dr. Walkley was a co-founder of the newly developed Gordon Research Conference on Lysosomal Disease and is an active member of the scientific advisory boards for numerous lysosomal disease organizations.

Elaine Williams, M.A., CCC-SLP, is a communication specialist at the Tri-State Rett Syndrome Center, working in partnership with Dr. Aleksandra Djukic, to train therapy teams and help them develop augmentative and al-ternative communication (AAC) programs for children with Rett syndrome. Ms. Williams also works privately through Williams Speech and Language Pathology PLLC, where she is an AAC specialist both nationally and interna-tionally for children with Rett syndrome. Ms. Williams received her training at Long Island University.

Anthony Loizides, M.D., is an assistant professor of pediatrics at Albert Einstein College of Medicine and Attending Physician at the Children’s Hospital at Montefiore Medical Center, where he specializes in pediatric gastroenter-ology. Dr. Loizides graduated from SUNY Stony Brook School of Medicine and completed his pediatric residency at the same institution. He completed his fellowship at the Combined Program in Pediatric Gastroenterology and Nutrition at the Harvard Medical School, training both at Children’s Hospital in Boston and Massachusetts General Hospital. Dr. Loizides’ research inter-

ests include inflammatory bowel disease, gastroenterological consequences of Rett syndrome, improving the health of gastrointestinal health of children with genetic, metabolic and neurodevel-opmental issues and medical education.

This activity has been made possible through support from the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (IDDRC) at Albert Einstein College of Medicine, which is funded through a Eunice Kennedy Shriver National Institute of Child Health & Human Development center grant (NIH/NICHD P30HD71593).