NYSCF Neuroscience Investigator Publishes Study in Nature Biotechnology on Riley-Day Syndrome
Difficult to extract, nerve cells from patients with Riley-Day syndrome largely preclude study of this disease. Riley-Day syndrome is a rare genetic disease that affects the function of nerve cells, leading to pain insensitivity, vomiting, and early death. To study the affected nerve cells, NYSCF Investigator Gabsang Lee, DVM, PhD, reprogrammed patients’ skin samples into induced pluripotent stem (iPS) cells and then derived the implicated nerve cell type. Lee and his team tested nearly 7,000 drug-like compounds on this in vitro model to help identify promising treatments. This study, published in Nature Biotechnology, may serve as a model for preliminary studies for other rare orphan diseases.