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Glycosylation defects in genetic disease, Muscular dystrophy. Protein glycosylation in Crohn's disease, and colitis. Our lab is currently focusing on identifying new defects that cause CDG and trying to understand how these defects are translated into the disease presentation. Defects occur in genes that activate and transport sugars, assemble them into glycans, remodel them. Most recently identified are genes that are needed to traffic and distribute the glycosylation machinery within cells. Ongoing collaborations with academic physicians provide a steady flow of new patients for analysis. Since very few laboratories in the United States work on CDG, we are developing new molecular diagnostic methods to handle the increasing number of patients. With the help of generous philanthropic support, we have also recently begun to screen molecular libraries to identify small molecules that can supplement the depleted glycosylation pathways in some of these patients.

Track(s):
Molecular Pathology


BMS Focus Areas:
Glycobiology