Presented at the 2009 ASF Biennial Conference in Orlando, FL., the Angelman Syndrome Foundation announced the establishment of the Angelman Treatment and Research Institute (ATRI). Please visit www.angelman.org for more information.
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07-24-09 Angelman ATRI Presentation
1. Angelman Syndrome Foundation Scientific Road Map Improving the lives of individuals with Angelman Syndrome and their families
2. WELCOME Charles Williams, M.D. • Chair of the ASF Scientific Advisory Committee Purpose of Talk • Taskforce Committee and its recommendations • ASF’s plan for these recommendations
3. ASF: Fiscally Responsible, Financially Sound Charity Navigator’s 4-star rating for sound fiscal management Given to only a quarter of all charities evaluated
4. ASF: Two Decades’ Momentum for Research Support First Angelman conference in Orlando, 1990
7. Current State of Granting Evaluation of a Standard Behavioral Protocol in the Treatment of Sleep Problems in Young Children with Angelman Syndrome Dr. Keith Allen Munroe-Meyer Institute University of Nebraska Medical Center Omaha, NE Use of Conventional & Complementary and Alternative Treatments for Problem Behaviors in Angelman Syndrome Dr. Sarika Peters Baylor College of Medicine Texas Children’s Hospital Houston, TX
8. Preparing for Future Research Funding In the process of reviewing 19 research submissions in 2009
9. ASF is Relatively Young ASF is like a young adult facing a world full of immense possibilities and challenges
10. Why an ASF Roadmap Taskforce? ASF Wanted: BOLD research vision that • Moves more quickly towards effective treatments and a possible cure • Attracts enhanced research dollar donations to ASF • Expands ASF’s advocacy for research on AS • Is guided by a tangible roadmap
11. Task Force Members Dr. Charles A. Williams Dr. Aaron Ciechanover Dr. Evan Y. Snyder
13. Task Force Members and Process Members: • Scientists and Professionals Process: • Telephone Conferences • One-day Meeting/Retreat • Final Deliberations • Committee Report • ASF Board Approval
14. Task Force Recommendations Focus on research that best TREATS the symptoms of AS Support UBE3A basic research Create Angelman Treatment and Research Institute Building the pathway for a cure
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16. Research for Treatments to Help Families NOW! Curing Seizures Improving Walking Unlocking/Improving Communication
17. Research for Treatments to Help Families NOW! For Novel Therapeutic Drug Trials For Development of Best Practices • For Improved Daily Life Through Adulthood • For Better Education/Schooling
19. ASF Funded UBE3A Basic Research UBE3A Gene Regulation Experiments ( Segel, Jiang ) The Folic Acid Trials ( Baylor, San Diego, Boston ) Visual Experience Experiments ( Philpot, Ehlers ) Possible Reversal of AS ( Elgersma, Weeber )
20. Surrounding the Challenge The challenge of curing a genetic disorder is great • History tells us that the task is enormous However, we are attacking the life challenges of AS from every angle • Treatments of child and adult symptoms • UBE3A basic research • Clinical trials and best practices • Unrelenting optimism and hope
22. INTRODUCING ATRI Angelman Treatment and Research Institute (ATRI) • Making the roadmap a reality • Dedicated full-time staff • ASF Scientific Advisory Committee will continue to administer grant review functions
23. ATRI Vision Much of ATRI will be a program functioning largely through Web-based communications
26. Endorsement from Sarika Peters, M.D. By establishing the Angelman Treatment and Research Institute, many scientific advances can occur that will ultimately improve the quality of life for individuals with AS and their families. Dr. Sarika Peters Baylor
27. Endorsement from Jane Summers, Ph.D. I would like to offer my very enthusiastic support for the plan that is being articulated by the Scientific Roadmap Taskforce of the Angelman Syndrome Foundation. Jane Summers, Ph.D. McMaster Children’s Hospital and McMaster University Hamilton, Ontario Canada
28. Endorsement from Michael D. Ehlers, M.D., Ph.D. The priorities as established by the ATRI are right on in recognizing the continued need for expanding our fundamental knowledge of Ube3a and its role in brain development and function. Michael D. Ehlers, M.D., Ph.D. George Barth Geller Professor Investigator, Howard Hughes Medical Institute Department of Neurobiology, Duke University Medical Center
29. Endorsement from Ype Elgersma, Ph.D. I am very pleased to see that the ASF has been able to formulate a clear roadmap which should guide us in finding a treatment for AS or its specific symptoms. Ype Elgersma, Ph.D. Professor of Molecular Neuroscience Erasmus MC University medical center Rotterdam, The Netherlands
30. Endorsement from Yong-hui Jiang, M.D., Ph.D. For all genetic disease-specific research foundations, I rank ASF as a top-tier program for fundraising, supporting research and providing patient advocacy for Angelman syndrome. Yong-hui Jiang, M.D., Ph.D. Assistant Professor Division of Medical Genetics Department of Pediatrics and Neurobiology Member, Duke Institute of Brain Science Duke
31. Endorsement from Stephen Calculator, M.D. … the ATRI, is quite exciting. The proposed administrative structure and implementation plan should lead to a boost in externally funded basic as well as applied research, bringing us ever closer to finding a cure for AS. Dr. Stephen Calculator Department of Communication Sciences and Disorders University of New Hampshire
32. Endorsement from Ben Philpot, Ph.D. In establishing the ATRI, the ASF has also realized the importance of supporting basic research as an essential component to the long-term strategy of treating Angelman syndrome. Ben Philpot, Ph.D. Department of Cell and Molecular Physiology UNC School of Medicine
33. I am keen to endorse this statement and to help in whatever way I can with AS research in the future…The ASF has had a major part to play in much of the research into AS and should be rightfully proud of this. Dr. Jill Clayton-Smith Professor of Medical Genetics Genetic Medicine University of Manchester St Mary's Hospital Endorsement from Jill Clayton-Smith, M.D.
35. What Families Can Do Serve as ambassadors • Pass information and knowledge on locally among teachers, pediatricians, your own families • Engage in conversations online Ask questions and get educated Champion the cause Help identify potential donors Consider participation in studies & trials
36. To Our Researchers & Scientists We look forward to working with you in this new structure/increased funding model Looking for the best and brightest • Opportunity to improve networking and collaboration of the best researchers and scientists worldwide- collaborate, share. • Casting a wider net to engage researchers not currently working on AS, but in related areas.
37. Positioned to continue aggressive funding with a clear vision and roadmap Ready to make an impact now • Funding research that finds treatments that may cure symptoms • Research that affects lives of children, adolescents, adults, families Fostering collaboration worldwide through ATRI IN SUMMARY
38. IN SUMMARY To advance the awareness and treatment of Angelman Syndrome through education and information, research, and support for individuals with Angelman Syndrome, their families and other concerned parties
Notas do Editor
I’m Dr. Charles Williams Chair of the ASF Scientific Advisory Committee Professor of Pediatrics and Genetics,Department of Pediatrics, University of Florida Special interest in neurogenetic disorders Focus of research career is in the study of Angelman syndrome Purpose of talk Tell you about the Taskforce Committee and its recommendations Discuss what ASF is planning to do with these recommendations
Received Charity Navigator’s 4-star rating for sound fiscal management in November 2008, demonstrating its ability to efficiently manage and grow its finances Only a quarter of all charities evaluated by Charity Navigator receive this distinction
First Angelman conference in Orlando, 1990 (add pic of Harry Angelman) Two decades as a leading source of education and information, research and support
Task force developed a scientific roadmap to direct ASF’s funding of AS research to ensure efforts are efficient and productive. Talk abut timeframe in which you convened
(animate sequentially)
Curing seizures Imagine the improvement in your child’s and your family’s lives if seizures could either be prevented or effectively treated Improving walking Imagine if walking could be smoother and movements were less tremulous Unlocking/improving communication Imagine the impact if an individual with AS could more effectively communicate
For new pharmaceuticals, biological agents, adaptive devices, surgical and diagnostic procedures, other modalities For autism issues and eating disorders For improved adult life and family experiences, life and self-help skills, vocational training, access to community programs and health
***Animate bullet points in sequence Research on UBE3A action in mice helped create the folic acid trials seeking to increase availability of methyl groups and enhance cognitive functioning (Baylor, San Diego, Boston) Visual experience experiments in AS mice in light and dark exposures indicated that there is neuronal plasticity ( Some AS symptoms in mice may be reversible! (Weaver) UBE3A gene regulation experiments in mice are afoot as are other gene strategies. (UC Davis, David Segal, Jing)
Much of ATRI will be a program functioning largely through Web-based communications Members can conduct meetings and symposiums, and convene as necessary to discuss research progress and activities
*** Logo would be incorporated
Angelman Treatment and Research Institute (ATRI) Is being established to make the roadmap a reality; coordinate and implement activities around research and funding A full-time staff will be devoted to implementing the activities of ATRI ASF Scientific Advisory Committee will continue to administer grant review functions
Much of ATRI will be a program functioning largely through Web-based communications Members can conduct meetings and symposiums, and convene as necessary to discuss research progress and activities
