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)

 

One Mother's Story

One Mother's Story

After a long three-year struggle trying to have children, our son, Charlie, was born on April 18, 2009. He was our miracle...perfect in every way! When Charlie was five days old, our pediatrician called to notify us that one of the numbers from the heel prick test was a bit high. We headed to the hospital that afternoon for more tests. I will never forget the following day. It was cool and crisp - not a cloud in the sky....

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