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What is CDG?



First described by Dr. Jaak Jaeken in 1980, Congenital Disorders of Glycosylation (CDG) are a rare group of genetic disorders that result in faulty glycosylation. Glycosylation is the cellular process of adding sugar chains to proteins by means of enzymes and this pathway is necessary for the normal growth and function of cells, tissues, and organs. Traditionally there have been two types of CDG recognized (type I & type II). The newer declycosylation disorder (NGLY-1) is now also recognized. (see NGLY-1 New Yorker article.) Approximately 1000 individuals worldwide have been diagnosed with CDG type I. To date, fifteen subtypes of CDG-I have been identified. Seven children have now been diagnosed with subtype CDG-1L (ALG9-CDG). Maria is one of them. Features common to most CDG subtypes are failure to thrive, developmental delay, hypotonia, and seizures. Some subtypes have more unique characteristics such as liver disease, clotting disorders, or cystic kidneys.

 

To learn more about CDG, please visit the CDG Care website.


What is the FoG?

In January 2011, Maria's father, a medical microbiologist, attended the fourth annual International Meeting on CDG in Leuven, Belgium. Here he learned about diagnostic testing for CDG and the relevant cellular pathways. Maria's father was encouraged by the advancements that have been made by researchers who were present at the conference. However, there are many ongoing studies pertaining to the most common CDG subtypes but far less research is being conducted on rarer subtypes, like Maria's ALG9-CDG enzyme deficiency. Additionally, it is generally suspected that CDG is underdiagnosed in children. Given this, Maria's father and family established Foundation Glycosylation (the FoG), with assistance from the Saint John Regional Hospital Foundation. The FoG supports CDG research, raises awareness of the disorder, and advocates for individuals who have these rare enzyme deficiencies.


Foundation Glycosylation research initiatives have been welcomed by local researchers at the University of New Brunswick and Dalhousie Medical School. Furthermore, well established CDG investigators in the United States and Europe have embraced the opportunity for collaborative research projects. The FoG has recently hired a full time research technologist, Dr. Lester Perez, who is developing an ALG9 deficient zebrafish model. Using enzyme deficient models, like Danio rerio (zebrafish) and Saccharomyces cerevisiae (yeast), it is our hope that CDG therapies can be identified through experiments that rescue mutant phenotypes. Glycosylation is an essential process for normal human function. A greater understanding of glycosylation will have an impact in many areas of biology -- including immunology, infectious diseases, hepatology, and opthalmology -- and improve the lives of children and their families who are impacted by CDG and various other enzymatic disorders.




In 2014, Mollie McGuire was hired by the FoG to work as a student intern. During her time with the FoG she published an article in the Dalhousie Medical Alumni Association magazine VoxMeDal. This article below outlines the FoG initiative and the collaborative research being guided by Dr. Thomas Pulinilkunnil and Dr. Petra Kienesberger.

McGuire, Mollie. 2014. A Labor of Love for a Parent and Physician. VoxMeDAL: 34-35.


 

The following are some of the people

that have had a positive impact on

Maria and Foundation Glycosylation:

 

 

 

© 2013 FoG