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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, which can be accessed at Link. 
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 Health System is an integrated health services organization widely recognized for its innovative use of the electronic health record and the development of innovative care delivery models such as ProvenHealth Navigator® and ProvenCare®. As one of the nation’s largest health service organizations, Geisinger serves more than 3 million residents throughout 45 counties in central, south-central and northeast Pennsylvania, and also in southern New Jersey with the addition of AtlantiCare, a National Malcolm Baldrige Award recipient. The physician-led system is comprised of approximately 30,000 employees, including nearly 1,600 employed physicians, 12 hospital campuses, two research centers and a 510,000-member health plan, all of which leverage an estimated $8.9 billion positive impact on the Pennsylvania economy. Geisinger has repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit


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