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Study published online in JAMA Psychiatry


DANVILLE, PA -- A recent study led by a team of researchers at Geisinger Health System’s Autism & Developmental Medicine Institute (ADMI) identified 17 new genes causing autism and other related brain disorders, including intellectual disability/developmental delay, epilepsy, attention deficit hyperactivity disorder, schizophrenia, and bipolar disorder.

Christa Lese Martin (right), Ph.D., director and senior investigator of ADMI and senior author of the study, noted that “the identification of new genetic causes of brain disorders, such as autism, is increasing our understanding of their underlying biology which will ultimately lead to targeted therapies. We now know that at least 40-50 percent of brain disorders are caused by a genetic change in a person’s DNA, and studies like ours are adding to this knowledge.”

The study, published online in the Journal of the American Medical Association (JAMA) Psychiatry, used “data mining” of the scientific literature, including close to 400 studies. The team carried out an evidence-based analysis that looked for multiple individuals with autism or other related brain disorders who have a genetic change in the same gene. As the number of individuals identified increased for a particular gene, so did the evidence for changes in that gene to be causative of a brain disorder.

Using this approach, 241 genes were identified, including 17 that have not previously been shown to cause autism or other brain disorders. To provide an easily accessible resource for researchers and clinicians, the group created an online gene database with all of their findings.

The study shows that changes in the same gene can result in different brain disorders, which in turn can help researchers understand the basis for the disorders and explore genetically based treatments, said Andrea Gonzalez-Mantilla, M.D., postdoctoral fellow at ADMI and a co-author of the study.

According to Andres Moreno-De-Luca, M.D., an investigator at ADMI and another co-author, by studying medical information from people with what seemed to be six different medical conditions, the research team was able to identify 17 genes that may cause brain disorders, genes that might not have been identified if the brain conditions were studied separately. “This further supports the notion of a genetics-first approach for developmental brain disorders research,” he said.

“Geisinger is committed to utilizing the rapidly advancing understanding of genes involved in autism and other brain disorders to improve patient health and well-being through personalized and precision care, and eventually, new treatments,” said David H. Ledbetter (right), Ph.D., Geisinger executive vice president and chief scientific officer, who was a co-author on the paper.

About Geisinger
Geisinger is committed to making better health easier for the more than 1 million people it serves. Founded more than 100 years ago by Abigail Geisinger, the system now includes 10 hospital campuses, a health plan with more than half a million members, a research institute and the Geisinger College of Health Sciences, which includes schools of medicine, nursing and graduate education. With more than 25,000 employees and 1,700+ employed physicians, Geisinger boosts its hometown economies in Pennsylvania by billions of dollars annually. Learn more at or connect with us on Facebook, Instagram, LinkedIn and Twitter.