Rescue of Lesch-Nyhan Disease
This is a project funded by the National Institute of Health (NIH). Lesch-Nyhan Disease (LND) is an inherited disorder caused by pathological genetic variants in the HPRT1 gene. A major uncertainty that has blocked attempts to rescue this disorder is uncertainty regarding the developmental age when treatments must be started to prevent or reverse its neurobehavioral defects. This project uses neurons growing in a dish, mouse models, and human brain samples to delineate the developmental stage at which treatments need to occur to rescue developing neurons.