Genetic changes are responsible for roughly 60 percent of the risk for autism, and most of these variants are commonly found in the general population, according to a groundbreaking study led by Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment, and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.
The remaining nongenetic factors that account for roughly 40 percent of the risk for autism are not known. However, environmental factors and the interaction between genes and the environment may be a part of these nongenetic factors, says Dr. Buxbaum, the G. Harold and Leila Y. Mathers Research Professor of Geriatrics and Adult Development at Icahn School of Medicine.
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.
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.