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Autism spectrum disorders

The etiology of autism spectrum disorders

Autism is an etiologically and clinically heterogeneous group of developmental brain disorders, collectively termed autism spectrum disorder (ASD). Recent studies in the United States have reported that ASD occurs in 1/91 children less than 17-year age, with boys facing 4-5 times higher risk than girls. Autism is a cause of lifelong developmental disability and premature mortality due to accidents as well as due to the presence of comorbid medical conditions such as respiratory, cardiac, epileptic events, and intellectual disability. 

The mortality risk among those with ASD is nearly twice that of the general population. Autism is also associated with severe neuropsychiatric disorders, including anxiety, depression, manic depression, obsessive compulsive disorder, attention-deficit/hyperactivity disorder, sleep disturbances, and epilepsy as well as physical and mental impairment. The disorder is characterized by complex morphologic, neurologic, and medical phenotypes. The loss of productivity and adult care are the largest components of the estimated cost of $35-37 Billion annually in the U.S and the U.K. Despite a large investment of resources and many years of research, the etiology of autism remains largely unknown.

We are interested in searching for environmental, genetic, and epigenetic risk factors for autism. We are also interested in 1) developing models to improve our understanding of the disorder, 2) identifying environmental risk factors, 3) developing tools that can identify gene-gene interactions (functional epistasis), 4) studying regulatory mechanisms, and 5) validating the findings experimentally.

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