Specific cellular pathways, along which genetic mutations occur, appear to play a key role in the development of autism spectrum disorders (ASD), according to new research from Icahn School of Medicine at Mount Sinai.
The findings, published online in the April 24, 2014, issue of The American Journal of Human Genetics, provide scientists with a better understanding of the complex genetic architecture involved in ASD, which has its roots in early brain development.
Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with a wide range of severity and symptoms affecting 1 out of 68 children in the United States. While there is currently no medicine for this complex condition, discovering genetic causes of ASD will help accurate diagnosis and prediction of additional likely symptoms, thereby improving medical treatment. Genetic findings can also provide families with critical information about the clinical course of the disease and provide opportunities for family counseling. New genetic findings allow scientists to conduct more specific research into the mechanisms that cause ASD as well as the many subtypes and symptoms of the condition. Finally, genetic findings also allow for detailed study of the way these genes function, which can help scientists design new treatments and develop more tailored medical support in the form of personalized medicine.
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.
Rare mutations in specific sets of genes may increase one’s chances of developing schizophrenia, according to investigators at Icahn School of Medicine at Mount Sinai, who recently led one of the largest and most comprehensive exome-sequencing studies of the psychiatric illness.
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.