In January 2011 Maria's father, a medical microbiologist, travelled to Leuven, Belgium to attend the 4th International Meeting on CDG. The diagnostic testing for CDG has been established and the relevant cellular pathways have been described in great detail though further work remains. Early pre-clinical models are now being designed and developed in order to begin the foundational work to identify potential therapies for CDG. Some of this seminal work was presented in Leuven and Maria's father was encouraged by the efforts of the scientists and researchers involved.

The models being designed to identify potential therapeutic compounds at present, are targeting the more common CDG sub-types with deficiencies in the enzymes found early in the glycosylation pathway. For many, however, including Maria, the enzymatic problem lies further along the glycosylation pathway. Inspired, by the work presented at the conference, Maria's father began to discuss research options with scientists in his local community, upon his arrival home in Atlantic Canada. The desire was to collaborate with researchers in order to complement the seminal therapeutic research already underway.

With guidance from the Research Department at the Saint John Regional Hospital in Saint John, New Brunswick and with the assistance of the Saint John Regional Hospital Foundation, Maria's family established a research trust, Foundation Glycosylation (the FoG), just one month after the 4th International Meeting on CDG in Leuven with the goal of supporting CDG-related research. The FoG was established in order to support research for the development of therapies targeting CDG, to help raise awareness of the disorder and to advocate for individuals living with this enzyme deficiency.

Research initiatives were well received by local scientists at the University of New Brunswick and Dalhousie Medical School where relevant projects quickly evolved. Established CDG researchers in the United States and Europe also offered guidance and support making collaborative research a reality. In the short-term, Foundation Glycosylation plans to fund a Master's student research project at the University of New Brunswick. This research will focus on CDG and will strive to characterize the role of the ALG9 protein in normal development. Concurrently, using morpholino technology to modify gene expression. an ALG9 deficient vertebrate model using zebrafish will be designed for further research targeting CDG-1L/ALG9-CDG. The longer-term goals of Foundation Glycosylation include the funding of a PhD applicant or post-doctoral researcher in order to enable ongoing work focusing on CDG sub-types CDG1L/ALG9-CDG and CDG-1G/ALG12-CDG. Using enzyme-deficient models, Danio rerio and Saccharomyces cereviciae morphant phenotypes may be characterized and ultimately rescue experiments may be performed with the goal of identifying potential therapeutics.

CDG is considered a rare disease and while not prevalent, it is probable that there are many undiagnosed cases. Glycosylation, however, is a common process and plays an essential role in organism function. Glycosylation research is critical for children like Maria, and furthermore, research in this area will promote a greater understanding of this basic cellular pathway which may also benefit other individuals with other enzyme disorders and can help build a greater depth of understanding in fields such as immunology, infectious diseases, hepatology and ophthalmology. A greater understanding of glycosylation may have a broad impact in many areas of biology and medical science and provides hope to children like Maria and their families as they live with CDG and its consequences on a daily basis. Please consider supporting Foundation Glycosylation.

Congenital Disorders of Glycosylation (CDG) compose a rare group of genetic disorders that result in faulty glycosylation. Glycosylation is the cellular process of adding sugar chains to proteins. The glycoproteins produced by this multi-step enzymatic glycosylation pathway are necessary for the normal growth and function of cells, tissues and organs. CDG has two types (type I & type II) and many subtypes. Each CDG subtype is defined by the specific abnormal glycosylation enzyme that results from a specific genetic abnormality. There are many features that are common to most of the CDG sub-types such as failure to thrive, developmental delay, hypotonia and seizures, though some subtypes have more unique features such as liver disease, clotting disorders or cystic kidneys.

This rare genetic disorder was first described by Dr. Jaak Jaeken in 1980. Since that time approximately 1,000 individuals worldwide have been diagnosed with CDG type-I. Fifteen subtypes of CDG-I have been identified to date and there have been three cases of CDG-1L (ALG9-CDG) diagnosed. Maria is the third.

To learn more about CDG please visit the CDG Family Network website.