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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 among the nation’s leading providers of value-based care, serving 1.2 million people in urban and rural communities across Pennsylvania. Founded in 1915 by philanthropist Abigail Geisinger, the non-profit system generates $10 billion in annual revenues across 134 care sites - including 10 hospital campuses, and Geisinger Health Plan, with 600,000 members in commercial and government plans. The Geisinger College of Health Sciences educates more than 5,000 medical professionals annually and conducts more than 1,400 clinical research studies. With 26,000 employees, including 1,600 employed physicians, Geisinger is among Pennsylvania’s largest employers with an estimated economic impact of $14 billion to the state’s economy. On March 31, 2024, Geisinger became the first member of Risant Health, a new nonprofit charitable organization created to expand and accelerate value-based care across the country.  Learn more at or connect with us on Facebook, Instagram, LinkedIn and X.

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