Yvonne Maddox: The Importance of Down Syndrome Research and Community Involvement
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Transcript of Yvonne Maddox: The Importance of Down Syndrome Research and Community Involvement
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Yv onne T. Ma dd ox , Ph.D.
De pu t y Dire c t o r
E u n i c e K e n n e d y S h r i v e r N a t i o n a l I n s t i t u t e o f C h i l d H e a l t h a n d H u m a nD e v e l o p m e n t
J u l y 1 8 , 2 0 1 3
G l o b a l D o w n S y n d r o m e F o u n d a t i o n R e s e a r c h a n d M e d i c a l C a r e
R o u n d t a b l e
D e n v e r , C o l o r a d o
DOWN SYNDROME RESEARCH: ROLE OFTHE COMMUNITY
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Introduction
Thank you for the honor of presenting Appreciate all of the many stakeholders who are here Down syndrome research is at an exciting stage John Langdon Down reported its clinical description in 1866 ; Ds
association with a chromosomal abnormality was confirmed by JeromeLejeune et al. in 1959
A newVision for Down syndrome research has been formulated by thebasic science and animal studies
Partnerships from many sectors: Government, academia, industry andadvocacy organizations are playing a critical role
There are many challenges for researchers, clinical investigators and theDown syndrome community
Champions for Ds Research are educated and sharing in the challenge
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Some
ResearchBenefitsfor People
with Ds
The advent of antibiotics, heartsurgery and specialized medicalcare have improved early survival
and longevity for most peoplewith Ds
Medical and educational advanceshave depended on scientificevidence and social change
Evidence-based therapies andeducational approaches arehelping young people with Ds
today achieve more than everbefore
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RecentAdvances
in DownSyndromeResearch
Identification of new compounds thatmay act on the brain in ways thatcould improve mental function (e.g.GABA receptor antagonists, betaadrenergic receptor agonists)
Represents years of investigations thatnow make senseViable mouse model for Down
syndrome
Model shows pharmaceuticalcompounds can improve learning andmemory
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Challengesin
ConductingDownSyndrome
Research
Ts65Dn mice are not humans withDs; treatments in mice may not have
same effects in people The few pharmaceutical therapies that
have been evaluated in humans havenot been very encouraging, but we are
hopeful about new onesWe need to move forward cautiously;
pharmaceuticals that may improvecognition, dementia and other
nervous system and brain functionscould have serious side effects
We need to evaluate all potentialtherapies in humans
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DS Affiliates in Action
American Academy of Pediatrics
Assoc. of Univ. Centers on Disabilities
DS Medical Interest Group
DS Research and Treatment Foundation
Special Olympics
NIH DS Working Group
Amer. Association on Intellectual and Developmental Disabilities
National DS Congress
Self-Advocate
Global DS Foundation
National DS Society
Research DS
Down Syndrome (DS) Consortium: SettingResearch Priorities
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DS-Connect: The NIH Down SyndromeConsortium Registry
Idea for a registry emerged from two 2010 meetingsidentifying important research resources
Supported by the Ds Consortium membership
Contract awarded in September 2012 to PatientCrossroads
Purpose: to facilitate information sharing amongfamilies, individuals with Ds, researchers, and
parents groups Tapping into the collective voice of individuals and
families will improve our understanding about the
condition and research participation
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DS Connect (2)
Contact information and health history can beentered in an online, secure, confidential database
Registry participants can customize their profile,update it online, and choose the information theywould like to share
With permission from participants, clinicians andresearchers who are authorized to access the
database can contact the Registry Coordinator aboutrecruitment in appropriate research studies
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DS-ConnectRegistry: AClinical TrialsRecruitment
Resource andEvaluationTool
Recruitment and retention issuesinclude access to large cohorts,
which are sustained
Trials will take time and funding Substantial challenges in
developing assessments that arereliable and sensitive enough todemonstrate treatment effects
Outcome measures must relate toimprovements in quality of life
The Down syndrome communitymust be involved in helping torecruit and in setting these goals
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Importanceof theDown
SyndromeCommunitytoBiomedical
Research
Families, self-advocates, caregiversmust encourage recruitment
Researchers play a crucial role inproviding clear and balancedinformation about this research tofamilies and people with Ds
Researchers, clinicians and otherprofessionals have a responsibility toprovide accurate information and tobe cautious about stating the eventualbenefits that a trial may bring without
supporting data
Need a team effort with researchers,clinicians, people with Ds and theirfamilies working together
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Goals for Ds
Research Immediate goalsLaunch the registryUpdate the NIH Research
Plan on Down Syndrome
Support more clinical trials
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Goals for Ds
Research
Ongoing goalsInvolve more families,
clinicians, and scientists in DsResearch
Use research to inform parentsand families about the latestresearch-supported facts
Improve the lives of children,adolescents, and adults livingwith Ds
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Questions???