Autism Research Update

A recent meeting by The Autism Consortium gave scientists, clinicians, advocates and parents an opportunity to share the latest information on causes of autism and their implications for diagnosis, prognosis and therapies.

The symposium’s scope and attendance doubled this year, with an increase in scientific posters presented from 19 in 2008 to 38 and attendance rising from 200 to 400 over last year.

“The dramatic growth of this year’s symposium strengthens our resolve to bring researchers, clinicians and families together to move the needle on autism research as quickly as possible,” said Deirdre Philips, executive director of the Autism Consortium.

“The Autism Consortium encourages families to become vested partners in the research process, participating in studies whenever they can to provide the broadest possible foundation for new discoveries that will lead to new treatments.”

Laurie Demmer, MD, MA, chief of the division of genetics and metabolism at The Floating Hospital for Children at Tufts Medical Center gave an overview of the genetic changes that have been identified in children with autism. She also discussed a new study demonstrating the utility of clinical genetic testing in the diagnosis and treatment of children with ASDs.

Representative Barbara L’Italien (MA), vice chair of the House Committee on Ways and Means, discussed new legislation that, if enacted, will mandate insurance coverage for diagnosis and treatment of ASDs.

Susan Wilczynski, PhD, BCBA, executive director of the National Autism Center, discussed a study evaluating the effectiveness of autism treatments based on research study results published in peer-reviewed journals.

Autism Consortium research last year resulted in a study published in the New England Journal of Medicine showing strong and compelling evidence that a region on chromosome 16 appears to play an important role in susceptibility for autism spectrum disorders.

Scanning genetic data from more than 3,000 individuals, researchers found that a deletion or duplication of a specific section of chromosome 16 (referred to as 16p11.2) accounts for approximately 1 percent of autism cases.

Since this discovery, researchers from eleven labs have begun an exciting collaboration on the investigation of this region of chromosome 16 and the role it plays in autism. Eight scientists working in this area presented an update on their latest findings:

• Mark Daly, PhD, Associate Professor, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, and Senior Associate Member of the Broad Institute, presented continued genetics analysis of the 25 genes in the 16p11.2 region.
• Three investigators from Children’s Hospital Boston presented their research on the human phenotypes associated with a deletion or duplication at 16p11.2: David Miller, MD, PhD, Harvard Medical School Division of Genetics and Assistant Director; Ellen Hanson, PhD, Harvard Medical School and Developmental Medical Center; Magdi Sobeih, MD, PhD, Harvard Medical School and Department of Neurology
• Three researchers presented work on understanding the role the 25 genes in the 16p11.2 region play in the mechanisms of neuronal development and brain formation in model organisms: Mustafa Sahin, MD, PhD, Children’s Hospital Boston; Froylan Calderon de Anda, PhD, Tsai Laboratory, MIT; Damon Page, PhD, Sur Laboratory, MIT
• Hazel Sive, PhD, Member, Whitehead Institute and Professor, Department of Biology, MIT, presented her work using the zebrafish as a tool to define the function of the genes contained in the 16p11.2 interval during early brain development.

For the first time in 2009, the Symposium included a Family Resource Fair, a forum for support and advocacy organizations to provide information on their programs and services. The Resource Fair was especially well received by the many autism family members and caregivers in attendance.

• Autism Consortium Autism Resource Specialists and Family Recruitment Network
• Family Autism Center, South Norfolk County ARC
• Autism Alliance of MetroWest
• Autism Support Center
• Spotlight Program, North Shore ARC
• The Doug Flutie, Jr. Foundation for Autism
• SPEDWatch
• Mass Family TIES
• E.K. Shriver Center, UMass Medical School
• Asperger’s Association of New England
• Antioch University New England, Center for Autism Spectrum Disorder Training
• TILL, Inc.
• Urban PRIDE

Source: Autism Consortium