Detecting, Testing, Treating Rare Diseases: Technology Delivers New Era of Personalization
Cedars-SinaiA team of researchers from the National Institutes of Health, Emory University and Cedars-Sinai – specialists in identifying and treating very rare diseases – used three innovative tools to detect a previously unknown gene mutation, test potential therapies in the lab, and initiate personalized drug treatment for a boy with a lifelong history of uncontrollable seizures that caused significant impact on his cognitive and social development.