FOG - Key Persons

In the past 35 years, glycobiologists have identified nearly 70 human glycosylation disorders, each with its own defective enzyme. Among the rarest type is ALG9-CDG, of which Maria Webster, the six-year-old daughter of Dr. Duncan Webster '01, is the third in the world to be diagnosed. Maria's CDG syndrome includes hypotonia, frequent seizures, cystic kidneys, and hepatomegaly with severe cognitive and physical developmental delays. There is currently no treatment for her disorder. As a result, Maria's family established Foundation Glycosylation (the FoG) in 2011 to raise both awareness of the disorder and funds to support research targeting therapies for CDG. With the help of many researchers, including DMNB's Drs. Thomas Pulinilkunnil and Petra Kienesberger, much progress has been made. In collaboration with Dr. Webster, Dr. Kienesberger aims to investigate the mechanisms for heart function defects in CDG patients and find new ways to treat cardiac dysfunction and improve quality of life and life expectancy for CDG patients with heart disease. Dr. Pulinilkunnil, also working with Dr. Webster, aims to examine molecular pathways by which impaired glycosylation promotes intracellular distress specifically in organelles like mitochondria, endoplasmic reticulum, and lysosomes that are mainly responsible for generating energy, performing quality check on proteins, and degrading cellular waste. This collaborative research will identify and characterize novel pathways and proteins mediating pathological effects of defective glycosylation. Moreover, researchers will employ yeast and zebrafish as model organisms for addressing this research, which will help find novel therapies targeted at improving organ function in individuals with CDG. Their next goal is to validate protocols and platforms that will enable measurement of glycosylation intermediates and examine signaling pathways that link glycosylation disorders with cell and organ defects. This is a promising development that will advance CDG research in Saint John and Atlantic Canada.

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.

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. The article, posted 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. )