Gene Discovery in Severe Epilepsy May Offer Clues to Unique Personalized Therapies
CHOP researchers apply knowledge to identify possible precision treatment
An international team of researchers who discovered a new gene disorder that causes severe childhood epilepsy leveraged that finding to reduce seizures in two children. The collaborators’ case report reflects the potential of precision medicine – applying basic science knowledge to individualize treatment to a patient’s unique genetic profile. “After discovering the disease-causing mutation in two children, we were able to apply basic science research to understand exactly how the DNA change impairs cellular functions,” said study leader Marni J. Falk, MD, a clinical geneticist and director of the Mitochondrial Disease Clinical Center at The Children’s Hospital of Philadelphia (CHOP). “We were fortunate to be able to translate those biological insights to select drugs available for other indications that we could repurpose to treat a child’s life-threatening seizures.” To read more, click here.
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