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.
Dr. Russell Webster served as the Head of the Department of Obstetrics in Saint John, New Brunswick from 1978 to 1999. He was a skilled surgeon and an exceptional clinician, having welcomed thousands of newborns into this world. When his granddaughter, Maria, was born in September 2006, he sensed that there was something unusual. Although her first few weeks of life seemed routine, he noted unusual eye movements and began to suspect that all was not well. It was months later that Maria was diagnosed with ALG9-CDG.
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 were many ongoing studies pertaining to the most common CDG subtypes but far less research 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 grandfather and family established Foundation Glycosylation (the FoG), with assistance from the Saint John Regional Hospital Foundation. Dr. Russell Webster was grateful to have the support of his local medical community. His years of service and dedication to his community were recognized by his colleagues who provided both moral and financial support to help get the Foundation off the ground in 2011. Since that time, the FoG has supported CDG research, raised awareness of the disorder, and advocated 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. Glycosylation is an essential process for normal human function. A greater understanding of glycosylation can 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 related enzymatic disorders.
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.