The Warren Family Research Center for Drug Discovery and Development at the University of Notre Dame has established a research collaboration with Retrophin, Inc. and the Grace Wilsey Foundation to focus on developing treatment for NGLY1 deficiency.
The partnership aims to develop a novel therapeutic for patients with NGLY1 deficiency, a rare genetic disorder. NGLY1 deficiency is believed to be caused by a deficiency in an enzyme called N-glycanase-1. The condition is characterized by a variety of symptoms, including global developmental delay, movement disorder, seizures, and ocular abnormalities.
Under this collaboration, the Grace Wilsey Foundation will provide support and funding to Retrophin to enable collaborative discovery efforts, with researchers in the Warren Center, that aim to validate and address a new molecular target that may be relevant to NGLY1 deficiency. Read More