Partners in crime: genetic collaborator may influence severity of the rare disease, NGLY1

In 2012, four-year-old Bertrand Might became the first-ever patient diagnosed with a rare genetic disorder called N-glycanase (NGLY1) deficiency. The discovery of this condition and Bertrand’s diagnosis allowed doctors to look for other children with the same genetic defect. Since then, more than 60 additional patients have been found. Clement Chow, a University of Utah geneticist is determined to find what’s going on.