Architecture of Autism

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Autism spectrum disorders are among the most heartbreaking—and mysterious—of childhood maladies. New genetic research opens a window on a possible cause.

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In a study published online in the Annals of Human Genetics, Margaret Pericak-Vance, Ph.D., John T. Macdonald Professor and director of the Miami Institute for Human Genomics at the University of Miami Miller School of Medicine, searched for small genetic variants associated with ASD.

Uncovering a Common Mutation
The symptoms are gradual and insidious. An infant or toddler begins to withdraw from social interaction and to take refuge in solitary, often repetitive behaviors. As the months and years pass, the child becomes increasingly difficult and unresponsive—and another family is devastated by the effects of autism.

Autism and autism spectrum disorders (ASD) affect an estimated one in 150 U.S. children. While rare genetic mutations are known to increase the risk of such conditions, UM researchers recently identified common gene mutations that could also play a role.

In a study published online in the Annals of Human Genetics, Margaret Pericak-Vance, Ph.D., John T. Macdonald Professor and director of the Miami Institute for Human Genomics at the University of Miami Miller School of Medicine, searched for small genetic variants associated with ASD. Data gathered from 438 families with autistic children were validated with findings from another 487 affected families. The multi-center study included investigators from more than a dozen sites and more than 10,000 subjects.

Assembling the Autism Puzzle
The findings from the breakthrough study, published online April 28 by the journal Nature, may implicate a gene involved in forming the connections between brain cells.

Pericak-Vance and her collaborator Jonathan Haines, Ph.D., at Vanderbilt University Medical Center, joined the results of their study—which has yielded what she calls “the most significant finding to date”—with those of Hakon Hakonarson, Ph.D., from Children’s Hospital of Philadelphia.

“Until now, no common genetic variant has been identified with such overwhelming evidence to support its role in autism spectrum disorders,” she says. “Many thought that this day would never come, but we persisted.”


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