The most recent study from the Seaver Autism Center at Mount Sinai draws a possible link between the genetic abnormalities attributed to autism spectrum disorder (ASD), and dysregulation of the mechanism by which unused neural connections are pruned during development. This information builds upon prior discoveries at the Seaver Center, which identified three kinds of genetic mutations that are believed to contribute to autism risk: de novo mutations; recessive or X-linked mutations; and small chromosomal abnormalities.
The Center for Disease Control and Prevention has found that 1 in 88 people are affected by autism spectrum disorders (ASD), a disorder four times more common in boys than in girls. At the Seaver Autism Center for Research and Treatment, we are dedicated to discovering the biological causes of ASD and developing breakthrough treatments. Through molecular genetics, model systems, and experimental therapeutics, we strive to translate scientific research into optimal community care.
Our understanding of the genetic basis of autism and related conditions has changed recently. Based on discoveries made by large genetic consortia including the Autism Sequencing Consortium (ASC) which we lead, we now know that autism can be conceived of as having multiple independent causes, where in many cases the cause can be largely attributed to a specific genetic mutation. The ASC expects to identify half of all ASD genes in the next several years, leading to better diagnosis and treatment.