Nov 2 2010
Researchers, clinicians and parents gather to discuss latest autism research
The Autism Consortium, an innovative Boston area collaboration of researchers, clinicians, funders and families dedicated to catalyzing research and enhancing clinical care for autism spectrum disorders (ASDs), announced that it will begin a new initiative on Translational Medicine and Autism Therapeutics. The new focus was introduced at the Consortium's fifth annual symposium held October 26th, 2010, at Harvard Medical School in Boston.
"As scientists are starting to connect genetics to brain function and behavior, we believe it is time to capitalize on these findings and focus our efforts on helping to fulfill the promise of translational medicine for people with autism and their families," said Peter Barrett, partner in the Life Sciences group at Atlas Venture and chair of the Autism Consortium's board of directors, who spoke at the Symposium. The annual meeting gave scientists, clinicians, parents and service providers an opportunity to gather to hear about the latest information on causes of autism, research into new methods for diagnosis, and advances in therapeutics for people with autism spectrum disorders.
As part of the new therapeutics initiative, the first session of the afternoon brought together speakers representing clinical trials for therapeutics in three autism-related disorders: Rett Syndrome, Tuberous Sclerosis and Fragile X. Capitalizing on this opportunity, Robert Ring, PhD, the Senior Director and Head of the newly established Autism Research Unit within Pfizer Global Research and Development spoke about how academia and the pharmaceutical industry can leverage collaboration in the pursuit of autism therapeutics.
"The future of therapeutic discovery and development for patients living with autism cannot be built without a strong foundation of collaborative partnership between industry and academia," said Dr. Ring. "Non-profit organizations like the Autism Consortium will be critical partners in bringing these collaborative partnerships together."
In addition to Pfizer, attendees included representatives from a number of pharmaceutical companies including: Biogen Idec, Bristol Myers Squibb, Hoffman-LaRoche, Merck, Novartis, Sanofi-Aventis, Seaside Therapeutics, and Shire.
New Resource Guide for Families Released
At the Symposium, the Autism Consortium also announced the release of a new guide: "Transitioning Teens with Autism Spectrum Disorders: Resources and Timeline Planning for Adult Living". The manual is designed to provide concise insight on the key considerations and timeline for the journey. It includes valuable information on healthcare, post secondary education, employment and training, living arrangements, guardianship, and a host of other topics that will help parents navigate as their teens age out of childhood support services.
"With promising scientific research underway and many resources available to families of younger children, there was a decided lack of clear information and guidance on the transition to adult living. This manual is intended to fill the gap so families can constructively create a safe and meaningful context for their young adult's life," said Deirdre Phillips, Autism Consortium Executive Director. "We know that care providers, educators, community and government agencies are most responsive when families are knowledgeable and proactive advocates, and we believe this manual will be a valuable tool for them."
Current Autism Issues Discussed
The Plenary morning session included talks on new and exciting uses of informatics in autism research:
- Alexa McCray, PhD, Associate Professor of Medicine at Harvard Medical School and Co-Director, Center for Biomedical Informatics discussed tools that are making the vast amounts of Autism Consortium phenotyping data searchable and more accessible to researchers. She also presented an Autism Phenotype Ontology that will help to aggregate data from over 25 phenotpying tests, which measure the cognitive, behavioral and biological features of autism. This ontology will allow researchers world-wide to share their data more easily and potentially ease the burden of participating families by defining overlaps between the phenotyping measures.
- Dennis Wall, PhD, Assistant Professor at the Center for Biomedical Informatics of Harvard Medical School discussed using datasets from genome wide scans to discover and validate new genes and pathways implicated in ASDs.
A second morning session focused on new research into early identification and diagnosis of autism.
- Christopher A. Walsh, MD, PhD, Investigator, Howard Hughes Medical Institute, the Bullard Professor of Neurology at Harvard Medical School and Chief, Division of Genetics at Children's Hospital Boston outlined the current state of screening and diagnostic methods and the importance of evolving research in this area.
- Charles Nelson III, PhD, Professor of Pediatrics and Neuroscience at Harvard Medical School, and the Richard David Scott Chair in Pediatric Developmental Medicine Research at Children's Hospital Boston discussed using sophisticated electrophysiological and neuroimaging tools for early identification of infants at risk for autism.
- Louis Kunkel, PhD, Director, Program in Genomics at Children's Hospital Boston, and Professor of Pediatrics and Genetics at Harvard Medical School previewed his research on using whole blood expression profiles as a diagnostic for autism.
Latest Autism Research Presented for Discussion
Throughout the day, 22 researchers presented posters on their ongoing research in autism, ranging from new advances in clinical care to data mining, RNA editing and genomic arrangements.
Autism Spectrum Disorders Clinical Trials Upda
The first afternoon session, lead by Mriganka Sur, PhD, Newton Professor of Neuroscience, and Head of the Department of Brain and Cognitive Sciences at MIT, included updates on clinical trials in disorders related to autism, as well as a discussion on collaborations between academia and industry, led by Robert Ring, PhD, Senior Director and Head of the Autism Research Unit at Pfizer Global Research and Development.
- Omar Khwaja, MD, PhD Assistant in Neurology and Director of the Rett Syndrome Program at Children's Hospital Boston, and Instructor in Neurology at Harvard Medical School presented an overview of a new clinical trial for Rett Syndrome underway at Children's Hospital Boston.
- Kira Dies, ScM, LGC, Program Manager of the Tuberous Sclerosis Program at Children's Hospital Boston, gave an update on two clinical trials underway for Tuberous Sclerosis.
- Paul Wang, MD, Vice President of Clinical Development at Seaside Therapeutics presented work on promising trials underway for Fragile X Syndrome.
Close-Up on Autism Genetics
The second afternoon session, lead by James Gusella, PhD, Bullard Professor of Neurogenetics at Harvard Medical School, and Director of Center for Human Genetic Research at Massachusetts General Hospital, took an in-depth look at several recent findings in the area of genetics related to ASDs.
- Michael Talkowski, PhD, Postdoctoral Fellow in the Gusella Laboratory at MGH presented his work on using novel sequencing methods to characterize balanced rearrangements to identify high impact genomic targets in autism and related neurodevelopmental disorders.
- Seema Jamal, MSc, LGC, CCGC, Instructor of Pediatrics at Boston University School of Medicine presented her work on understanding the genetics of Epilepsy Limited to Females with Mental Retardation syndrome and how that relates to Autism Spectrum Disorders.
Source: Autism Consortium
Standardized screening leads to earlier autism diagnoses in pediatric care