Genetic study of autism

Janice Ware, PhD, works with patient Max Sours, 6, who has been enrolled in Children's Hospital Boston's genetic study of autism.

Autism now affects about one in 1,000 people, yet despite much research, its origins remain elusive. In fact, more than 90 percent of cases are thought to have a genetic component, but no specific gene or genes have been clearly implicated.

Children's Hospital Boston has begun to seek answers in a comprehensive, multidisciplinary genetic study of the autistic spectrum disorders (including classic autism, Asperger's syndrome and pervasive developmental disorder). Preliminary results, hoped for in a year or two, could shed light on autism's biology and point the way to new tests and treatments.

The effort begins in Children's Developmental Medicine Center, which plans to enroll 100 to 150 children age 2 years and older annually, along with parents and affected siblings. Led by Associate Director Janice Ware, PhD, and Director Leonard Rappaport, MD, the center will conduct detailed behavioral evaluations of the children and their families. Using rigorous clinical research criteria, they will develop behavioral profiles, or phenotypes, that can be correlated with genetic data.

The Program in Genomics will then conduct DNA analyses of blood and saliva samples from the participants and a matched control group of 150 unaffected children. Led by Genomics Director Louis Kunkel, PhD, and Ingrid Holm, MD, PhD, director of the Phenotyping Core Program, researchers will look for genetic variations (polymorphisms) that are shared within families and correlate them with autistic traits. They will also perform "gene-chip" analyses of participants' white blood cells, looking at 60,000 genes simultaneously to determine which are turned "on" and "off" in the different autistic spectrum disorders. Children's Informatics Program, led by Isaac Kohane, MD, PhD, will lend computational tools to help spot subtle genetic patterns and weed out chance, false-positive findings.

These efforts will be supplemented by the Neurobiology Program, led by Michael Greenberg, PhD. His team will investigate several known genes active in the brain that may be tied to autism. In a separate effort, children and families will be offered testing in facial recognition (a critical deficit in autism), language skills and gross and fine motor function. Results will be correlated with the genetic data and may uncover leads for further investigation.

	Children's Hospital Boston is currently enrolling only existing and previous Developmental Medicine Center patients, but hopes to recruit more broadly in the future. For more information, contact Lindsay Jackson at (617) 355-3076 or lindsay.jackson@childrens.harvard.edu.