Autism study launches
Despite much research, autism remains a mysterious disorder, so Children's Hospital Boston has launched an ambitious, multi-pronged study to pinpoint its genetic origins—and perhaps point the way to effective treatments.
The effort begins in the Developmental Medicine Center, which will enroll 100 to150 children per year. Director Leonard Rappaport, MD, Associate Director Janice Ware, PhD, and their colleagues will rigorously assess the children, their parents and affected siblings for autistic spectrum disorders (including autism, Asperger's disorder and pervasive developmental disorder) and develop detailed behavioral profiles.
The Program in Genomics will then perform DNA analyses of blood and saliva from the participants and from 150 children without autistic spectrum disorders. Led by Director Louis Kunkel, PhD, and Ingrid Holm, MD, PhD, director of the Phenotyping Core, investigators will look for genetic variations shared within families that correlate with autistic traits. They'll also perform "gene-chip" analyses of participants' white blood cells, looking at 60,000 genes simultaneously to see which are turned "on" and "off" in the different disorders. The Children's Hospital Informatics Program, led by Isaac Kohane, MD, PhD, will use computational tools to help recognize subtle genetic patterns and weed out chance, false-positive findings.
In addition, the Neurobiology Program, led by Michael Greenberg, PhD, will investigate several genes active in the brain that may be tied to autism. And finally, in a separate effort, children and families will be offered testing in facial recognition, language skills and motor function. Results will be correlated with the genetic data.
