Large Study Identifies More Than 100 Autism Genes

The developmental disorder called autism, afflicting 1 in 68 boys and girls in the United States, has genetic roots. Doctors have long recognized autism is associated with a combination of genetic factors that result in its heretability, and environmental factors such as exposure to air pollution during pregnancy, especially heavy metals and microscopic particulate matter.

They've also known many genes have been associated with autism through sequencing the genomes of affected individuals and their parents. In 2015, only 65 genes associated with autism spectrum disorder (ASD) were known, however.

That number has risen by another 102 genes, thanks to the incredible work of a team of researchers led by scientists at the Mount Sinai Hospital in New York, in collaboration with international partners. The work of this team in identifying the new 102 genes associated with ASD is recounted in a landmark study published in the peer-reviewed journal Cell.

The team relied on samples from more than 35,000 participants. Of this total, almost 12,000 had autism. Consequently, the team was able to study both genes that were inherited and those that occurred when egg or sperm are formed. The study said that of the 102 genes, 49 were also tied with other development delays.

"With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches," Dr. Joseph Buxbaum, the director of the Seaver Autism Center for Research and Treatment at Mount Sinai, told USA Today.

"The study is the latest in a string of advances to help understand the genetic factors associated with autism in some children,"Dr. Andrew Adesman, chief of developmental and behavioral pediatrics at Cohen Children’s Medical Center of New York, who wasn't involved in the study, said.

"Identification of these new genes associated with autism may not only help pinpoint a likely cause for ASD in some children, but it will also help researchers better determine the biological mechanisms that underlie autism," Adesman added.

ASD is a range of mental neurodevelopmental-type disorders that includes autism and Asperger syndrome. Individuals on the autistic spectrum often experience difficulties with social communication and interaction. They may exhibit restricted or repetitive patterns of behavior, interests or activities.