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IMAGE: University of Utah Health geneticist Clement Chow, Ph.D., studies NGLY1 deficiency in the fruit flies and its interaction with other genes. Understanding these interactions could help illuminate how NGLY1 deficiency. view more
Credit: Photo credit: Charlie Ehlert/University of Utah Health
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. The disease affects every system of the body and is characterized by low muscle tone, seizures, developmental delays, and an inability to produce tears.