Home | Research on Congenital Disorders of Glycosylation (CDGs)
Research on Congenital Disorders of Glycosylation (CDGs)
GGC’s Research Division actively studies a group of inherited diseases called the Congenital Disorders of Glycosylation or CDGs. These rare diseases are caused by defects in enzymes and proteins responsible for adding sugars onto proteins and lipids, a process known as glycosylation. When proteins or lipids in the cell are abnormally glycosylated, their biological functions can become impaired. Patients with CDGs have multisystem complications reflecting the central importance of glycosylation to the development and maintenance of most major organ systems in the human body. Once thought to be very rare, more and more CDG types that affect the different glycosylation pathways in the cell are being identified each year (see figure below; courtesy of Dr. Hudson Freeze, SBP Discovery Institute).
GGC researchers are currently studying CDGs on many levels, including the identifying new types, investigating how abnormal glycosylation causes the tissue-specific symptoms of these disorders and exploring novel treatments in partnership with pharmaceutical companies.The Division is taking advantage of zebrafish model for CDGs and induced pluripotent stem cell-derived liver and brain cells to unravel the complex nature of CDGs and hopefully the key proteins involved in the disease process. GGC researchers including staff scientist Dr. Seok-Ho Yu also employ novel chemical biology techniques to identify the glycoproteins that are most sensitive to global defects in glycosylation.Much of this work is done in collaboration with other research groups around the country, including the following projects:
Identification and characterization of novel CDG types (in collaboration with Hudson Freeze at Sanford-Burnham-Prebys)
Molecular pathogenesis of glycolipid-based CDGs using patient-derived neural crest cells (in collaboration with Steve Dalton and Michael Tiemeyer at UGA)
Harnessing selective enzymatic labeling to monitor loss of sialic acid in GNE myopathy (in collaboration with Marjan Huizing at NHGRI)
When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.
Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...