Children's Hospital Boston launches major genetic study of autism

December 09, 2004

Children's Hospital Boston has begun enrolling patients as part of an ambitious new multidisciplinary study of autism that will attempt to pin down its genetic and biochemical causes. Results could be available in a year or two, and could yield a greater biological understanding of autistic spectrum disorders, better diagnostic and prognostic techniques, and potential medical treatments.

More than 90 percent of autism cases are believed to have a genetic component, and multiple genes are believed to be involved. But although much research has been done and many candidate genes identified, none have been clearly implicated. The Children's study, partially funded by the Nancy Lurie Marks Family Foundation, will bring together researchers in genetics, genomics, bioinformatics, and developmental medicine to try to solve the puzzle.

Autism is a complex behavioral syndrome defined by developmental deficits, particularly communication deficits, impaired social interaction and repetitive behaviors. Affecting about one in 1,000 people, it is now thought of as a spectrum of disorders including autism, Asperger's syndrome and pervasive developmental disorder. There is no specific medical treatment, although behavioral interventions help children on the autistic spectrum live fuller, more functional lives.

The Children's researchers plan to enroll 100 to 150 children age 2 years and older per year, along with their parents and affected siblings. They also will enroll 150 unaffected children to serve as controls. The study has several components:
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Families interested in enrolling their child in the autism study should contact Lindsay Jackson at the Developmental Medicine Center (617-355-3076 or lindsay.jackson@childrens.harvard.edu).

Children's Hospital Boston is the nation's leading pediatric medical center, the largest provider of health care to Massachusetts' children, and the primary pediatric teaching hospital of Harvard Medical School. Children's provides pediatric and adolescent health services for patients from birth through age 21. In addition to 325 inpatient beds and comprehensive outpatient programs, it houses the world's largest research enterprise based at a pediatric medical center. More than 500 scientists, including eight members of the National Academy of Sciences, nine members of the Institute of Medicine and 10 members of the Howard Hughes Medical Institute comprise Children's research community. For more information about the hospital visit: www.childrenshospital.org.

Boston Children's Hospital

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