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December 4
2000

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Currents--University of Rochester newspaper

Researchers identify autism gene

In a medical first, researchers at the Medical Center have identified a gene that may predispose people to develop autism, an early childhood disorder that frequently involves problems in communicating with others and difficulty interacting socially.

Known as HOXA1, the gene plays a crucial role in early brain development and is the first gene linked to autism.

The study, led by Patricia Rodier, professor of obstetrics and gynecology at the School of Medicine and Dentistry, is being published in the December issue of the journal Teratology.

"These findings strongly suggest that a gene controlling early brain formation may underlie the development of autism in a large number of cases," said Duane Alexander, director of the National Institute of Child Health and Human Development, part of the National Institutes of Health.

The researchers tested blood samples collected from 57 people diagnosed with autism to determine if they possessed a variant form of the HOXA1 gene. Of these, 22 people--about 40 percent--had one copy of the variant gene.

The research team also included Jennifer Ingram, Christopher Stodgell, Susan Hyman, Denise Figlewicz, and Lowell Weitkamp, of the School of Medicine and Dentistry. The University has been designated by the National Institutes of Health as a Collaborative Center of Excellence in Autism, one of 10 such centers in the nation.



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