For Immediate Release: Friday, October 23, 2026, 1:30 p.m. U.S. Eastern Time
Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected]
Presented By: Scott Younger, PhD, Children’s Mercy
Rockville, Md. – For people with rare genetic epilepsies, finding an effective treatment can require trying multiple medications with no guarantee of success. Researchers have demonstrated an individualized approach that uses brain organoids grown from a patient’s own cells to test existing medicines and identify potential treatments.
Brain organoids are three-dimensional cellular models that can reproduce aspects of a patient’s disease biology. Researchers previously observed that organoids derived from people with epilepsy displayed hyperactive neuronal firing and responded to antiseizure medications in ways that mirrored patients’ medical records.
The team applied this approach to a patient with severe epileptic encephalopathy caused by a gain-of-function variant in the CACNA1C gene. Within eight weeks, researchers generated and characterized a patient-derived brain organoid model. They tested several FDA-approved calcium channel blockers and identified one that corrected the organoid’s abnormal neuronal activity. The patient subsequently received the medication and experienced a marked reduction in seizure burden.
Researchers then studied a second patient with developmental epileptic encephalopathy caused by a truncating PPP3CA variant. That patient’s organoids displayed hyperactive neuronal activity and did not respond to an antiseizure medication that had also been ineffective for the patient. An FDA-approved calcineurin inhibitor corrected the abnormal activity in the organoid, identifying another potential individualized treatment.
The findings provide an early proof of concept that patient-derived brain organoids could help predict drug response and rapidly evaluate existing medications for personalized use in rare diseases. However, the approach was demonstrated in only two patients, with treatment administered to one. Larger studies are needed to establish its reliability, safety, and clinical utility.
About the American Society of Human Genetics (ASHG)
The American Society of Human Genetics (ASHG) is the leading global organization advancing the science of human genetics and genomics. Representing nearly 8,000 researchers, clinicians, genetic counselors, educators, and other professionals, ASHG drives progress in understanding the human genome and its role in health and disease. The Society fosters innovation and collaboration through its flagship events and publications—including the ASHG Annual Meeting and its peer-reviewed journals The American Journal of Human Genetics and Human Genetics and Genomics Advances. ASHG also champions science advocacy, supports the next generation of genetics professionals, and promotes responsible policies and public engagement in genetics. Learn more at www.ashg.org.
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