Congenital Disorders of Glycosylation

Research in the division also includes studying congenital disorders of glycosylation (CDG), a disorder in which the body’s ability to modify proteins is disrupted, leading to clinical disease. CDGs comparatively new, with CDG first described in the 1980’s and their genetic and enzymatic components determined mostly in the 1990’s. There are over 100 disorders associated with this type of defect, but cases of each type of CDG remain rare, making it a challenging disorder to study.

Through collaboration with a national consortium, we will continue to add to the knowledge about these kinds of disorder through natural history studies, to more clearly describe the variety in the types of CDG disorders and characterize the progression for those affected.

Principal Investigator

Evgenia Sklirou, MD, FACMG