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)

 

Meet the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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