Next-generation genomics testing holds key to undiagnosed rare disease © Copyright 2024 Children's National Hospital

https://innovationdistrict.childrensnational.org/next-generation-genomics-testing-holds-key-to-undiagnosed-rare-disease/ Seth Berger, M.D., Ph.D., felt the pull to dig deeper when he started reading the chart. An 11-year-old boy had an abnormal gait and couldn’t even walk in a straight line down the sidewalk to go trick-or-treating. Yet workups with neurology, orthopedics and an exome analysis of the patient’s genetic code did not provide a diagnosis. He had been getting worse for roughly three years.