Partners in Crime: Genetic Collaborator May Influence Severity of the Rare Disease, NGLY1
University of Utah HealthIn 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. Since then, more than 60 additional patients have been found. University of Utah Health geneticist Clement Chow is investigating the disease, which affects every system of the body.