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Children's Hospital Boston launches major genetic study of autism

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:

  • The Children's Developmental Medicine Center will first conduct detailed behavioral evaluations of the children and their families, led by Drs. Janice Ware and Leonard Rappaport. Subjects will be assessed for autistic spectrum disorders and carefully classified according to rigorous clinical research criteria. The goal is to develop behavioral profiles that can be correlated with genetic d
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Contact: Aaron Patnode
aaron.patnode@childrens.harvard.edu
617-355-6420
Children's Hospital Boston
9-Dec-2004


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