Author: Martha Davis
University of Utah Health geneticist Clement Chow, PhD, and his research team leverage the powerful genetic tools available in the fruit fly (Drosophila melanogaster) to build and study models of rare diseases. The Chow lab has developed a fly model of NGLY1 deficiency, providing many new insights into the biology underlying this devastating autosomal recessive, genetic disorder.
Using the fly model, the Chow lab discovered NGLY1 deficiency results in the absence of a sugar known as GlcNAc, which is important for different cellular processes. When provided with a dietary GlcNAC supplement, flies with NGLY1 deficiency are healthier and live longer, suggesting this supplement may help NGLY1 patients.
Through a generous donation from Diane & Tom Might, Chow’s NGLY1 deficiency research has expanded. Their gift supports Chow’s postdoc, Dana Talsness, PhD, and accelerates the search for genetic modifiers of NGLY1 deficiency. Genetic modifiers are genes that might influence the outcome of a particular disease, and represent important targets for therapeutic development. After screening many candidates, Talsness is employing fly genetics and cell culture techniques to understand how one promising genetic modifier alters the outcomes of NGLY1 deficiency and how to target its function with drugs.
The Chow lab hopes to continue to translate basic science research of rare diseases to the clinic. The generosity of donors like the Might Family make this type of work possible. The Might family supports this research in hope that someday a treatment, or even a cure, will be found for NGLY1 deficiency.
- First case reported in 2012
- Extremely rare – only 63 individuals worldwide
- Symptoms include developmental milestone delays, movement disorders, seizures, liver disease, and an inability to produce tears or sweat
- No cure is currently available
- Learn more at NGLY1.org