# LLMs-Full.txt - Full Content for Project Pages # Generated on: 2026-01-28T02:28:36.166Z # Total pages: 14 --- ## URL: https://www.thefog.ca/home ### Title: Home ### Page ID: 2049024 ### Content: # **The FoG** # **Foundation Glycosylation** # **The FoG** # **Foundation Glycosylation** ## CDG Hub is hiring Scientific Writers! ## **CONTACT** ### **DONATE NOW** **Foundation Glycosylation is proud to serve as a Gold Sponsor of the 2026 CDG Scientific & Family Conference.** As a longstanding partner, TheFoG is honoured to support CDG CARE and the global CDG community. Presented by CDG Care, the conference features a dynamic program of cross-disciplinary sessions designed to foster collaboration, inspire new ideas, and showcase progress across all CDG types. This year's conference will be held in Orlando, Florida, April 24-26, 2026. **The FoG is a proud to have sponsored the** **O-GlcNAc Meeting****,** presented by The American Society for Biochemistry and Molecular biology, scheduled for July 11-13 2025 in North Carolina. **More information on The FoG's** [**NEWS PAGE**](https://www.thefog.ca/news) **and at the** [**ASBMB Meeting website.**](https://www.asbmb.org/meetings-events/o-glcnacylation-in-health-and-disease) CDG Hub is excited to announce that they are hiring two remote, part-time **Scientific Writers** through the **Canada Summer Jobs (CSJ) Program**! This opportunity is made possible thanks to the support of CDG Canada and the Sappani Foundation. Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms. The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families. Rare Disease Day highlights opportunities to advocate for human rights at local, national, and international levels as we work towards a more inclusive society. It raises awareness for the 300 million people living with rare diseases around the world for whom we strive to achieve equitable access to diagnosis, treatment, health and social care, and social opportunity. Rare Disease Day is a great example of how progress continues to be made. In 2008, events took place in just 18 countries; events are now held in over 100 countries. "The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals: a booming story of sugar trees" *The FoG, a local not-for-profit, supports research on the development of therapies targeting Congenital Disorders of Glycosylation (CDG), helps raise awareness of the disorder, and advocates for individuals living with these rare enzyme deficiencies.* - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/reset-password-page ### Title: Reset password page ### Page ID: 2049029 ### Content: Reset Password Reset Password --- ## URL: https://www.thefog.ca/about ### Title: About ### Page ID: 2049715 ### Content: ### About ### What is CDG? ### **What is the FoG?** 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 deglycosylation disorder (NGLY-1) is now also recognized. (see NGLY-1 [New Yorker](https://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2) [article](https://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2).) Approximately 1000 individuals worldwide have been diagnosed with CDG type I. To date, twenty-five subtypes of CDG-I have been identified. Ten 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: [https://cdgcare.org/what-is-cdg/](https://cdgcare.org/what-is-cdg/) 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. Giving this, Maria's grandfather and family established Foundation Glycosylation (the FoG), with assistance from the Sant 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 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**.* 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.) Drs. Pulinilkunnil and Kienesberger with Maria Webster Dr. Duncan Webster ’01 shares his personal journey: opening avenues of collaboration to advance CDG research in Saint John and Atlantic Canada As Maria struggled through her first year of life with the extremely rare enzyme deficiency known as ALG9-CDG, I recall one day speaking with my colleague and former Dean of Medicine, Dr. Noni MacDonald. With years of experience working with children battling chronic diseases, Noni explained that as parents of sick children learn to cope with a difficult situation, they take the initial dreams that they have held for their child and they gradually set them down. Once they do that, they can begin to pick up new dreams and live more graciously and with renewed hope and happiness. This is hard to do, but over the years this is what Anita and I have done as Maria’s parents. As Maria’s father, I hope that one day she will learn to walk, and I dream that one day she will have the ability to effectively communicate. And I desperately pray that she will maintain relative health and comfort. As a physician, I see great opportunity in gaining insights into Maria’s disorder. Her condition is rare yet holds many secrets to cellular function and physiology. Through focused research, treatments may be developed for this currently untreatable condition and a deeper understanding may be gained of this essential cellular process of glycosylation that impacts all cells, as well as many directly and indirectly related disorders/ Glycosylation is an extremely important function by which all human cells build sugar chains or glycans that are subsequently attached to other functional molecules, including proteins and lipids. The products of these attachments are called glycoproteins or glycolipids and are required for the normal growth and function of all tissues and organs. The process of glycosylation requires over 100 enzymes, each triggering separate steps in the glycosylation pathway. A malfunctioning enzyme, no matter where it falls on the pathway of glycan synthesis and metabolism, can result in a congenital disorder of glycosylation (CDG). The specific malfunctioning enzyme determines the sub-type of CDG and the impact on the body structures and functions that may vary to a great degree. 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. - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/research ### Title: Research ### Page ID: 2054095 ### Content: ### Research ### [Foundation Glycosylation Associated Publications ALG9-CDG](https://pubmed.ncbi.nlm.nih.gov/28932688/): ### [Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature](https://pubmed.ncbi.nlm.nih.gov/28726068/) ### [Validation of optimal reference genes for quantitative real time PCR in muscle and adipose tissue for obesity and diabetes research.](https://pubmed.ncbi.nlm.nih.gov/28620170/) ### Foundation Glycosylation Associated Poster Presentations ### Foundation Glycosylation Endorsed Honours Thesis Rare diseases have a significant impact on Canadian families affecting 1 in 12 Canadians with great cost to our society. Ninety percent of rare diseases are life-limiting and have no treatment, and 50% affect children ([http://igniteproject.ca/](http://igniteproject.ca/)). Our group is actively engaged in work focusing on rare disease research, with specific attention to congenital disorders of glycosylation (CDG) which results from faulty N-linked glycosylation. Dr. Thomas Pulinilkunnil and Dr. Petra Kienesberger with Maria Webster at the Dalhousie Medicine Research Laboratory in 2013. N-linked glycosylation is a critical process involved in the post-translational modification of newly synthesized proteins. This process is responsible for the formation of glycoproteins by the attachment of a sugar molecule (known as a glycan) to proteins. The resulting linkage influences protein structure and function. Glycosylated proteins play a vital role in essential cellular processes and regulate developmental pathways through embryogenesis and beyond. The biosynthesis pathway of N-linked glycoproteins begins in the endoplasmic reticulum (ER) of the cell and ends in the Golgi apparatus. As shown below in Figure 1 from *Hum Mutat* 2009;30:1628-41, the pathway begins on the cytoplasmic side of the ER and is catalysed by glycosyltransferase enzymes that utilize nucleotide activated sugars (UDP-GlcNAc and UDP-Glc) to form Man5GlcNAc2\-PP-Dol. The evolving glycan is then translocated to the luminal side of the ER membrane where it is further processed by luminally-oriented glucosyl and mannosyltransferases to form the fourteen sugar precursor, Glc3Man9GlcNAc2. Once the lipid-linked oligosaccharide (LLO) is assembled, it is then transferred to an asparagine side chain of a nascent growing protein, which bears a consensus sequence for glycosylation (Asn-X-Ser/Thr). Once the glycoproteins have folded properly, they move to the Golgi complex where they are subjected to further trimming and modification to form mature glycoproteins. Figure 1. Pathway of dolichol-linked oligosaccharide biosynthesis. The gene symbols are indicated next to the catalyzed reactions. N-linked glycosylation is an essential process for maintaining normal biological activity of proteins. Impairment in this process may lead to formation of proteins with reduced or lost function. In general, disturbances of glycosylation may be either congenital or acquired. Disorders of glycosylation are rare though identified sub-types and cases of CDG are growing rapidly. CDG is a devastating disorder impacting numerous organ systems in developing children resulting in severe cognitive and physical developmental delay and early death in 20% of cases. (*Acta Biochimica Polonica* 2013;60:151-161.) There is currently no treatment for CDG; however, with a growing understanding of the cellular pathways and the associated genetic mutations that result in CDG sub-types, the avenue for therapeutic research has now been opened widely. The approach to therapeutic research involves the development of a disease model with critical measurable biomarkers. Glycosylation studies are currently underway at the Dalhousie Medicine Research Laboratory in Saint John, New Brunswick. Current disease models being used and developed include the yeast *Saccharmomyces cerevisiae*, the Zebrafish *Danio rerio,* and human fibroblasts. The *Z*ebrafish have become an invaluable tool for studying developmental human disorders. This vertebrate organism develops from embryonic stages to a fully grown adult within days and its transparent nature allows for clear observation of cellular functions and organogenesis. Through CRISPR/Cas9 technology, the zebrafish genetic structure may be manipulated and organisms with CDG constructed. Subsequently, these constructs may be utilized as disease models and potential therapeutic strategies studied. With assistance from [Prof Aiebi's lab in Zurich](http://www.micro.biol.ethz.ch/research/aebi.html), our group has successfully completed preliminary work utilizing transformed yeast strains, which serve as disease models for CDG. With this background work we are now prepared to develop a vertebrate disease model. New clinical case and review of the literature Molecular Genetics and Metabolism Reports 2017;13:55-63. Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani Journal of Inherited Metabolic Disease 2017;40(5):657-672. D Marques-da-Silva, R. Francisco, D. Webster, V. dos Reis Ferreira, J. Jaeken, T. Pulinilkunnil Scientific Reports 2017;7(1):3612 1-13. LJ Perez, L Rios, P Trivedi, K D'Souza, A Sowie, C Nzirorera, D Webster, K Brunt, JF Legare, A Hassan, PC Kienesberger, T Pulinilkunnil **Loss of Glycosyltransferase ALG9 Perturbs Cellular Proteostatsis and Mitochondrial Function** Cellular Proteostasis & Mitochondrial Function 2.1MB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 **A Subcellular Fractionation Method to Enrich Endoplasmic Reticulum from** ***Saccharomyces cerevisiae* and Human Dermal Fibroblasts with ALG9 Mutation** [A Subcellular Fractionation Method to Enrich Endoplasmic Reticulum from Saccharomyces cerevisiae and Human Dermal Fibroblasts with ALG9 Mutation](https://cloud-1de12d.becdn.net/customfile/eda74cd2f7084c760742ea2e07d4ca11.pdf) 1.5MB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 **Transformation of mutant *Saccharomyces cerevisiae* strains and establishing a disease model for ALG9-CDG** [Transformation of mutant Saccharomyces cerevisiae strains and establishing a disease model for ALG9-CDG.pdf](https://cloud-1de12d.becdn.net/customfile/c49e348e18119bdcf7de6edb4663f82c.pdf) 1.2MB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 **Transformation of mutant Saccharomyces cerevisiae strains and establishing a disease model for ALG12-CDG** [Transformation of mutant Saccharomyces cerevisiae strains and establishing a disease model for ALG12-CDG](https://cloud-1de12d.becdn.net/customfile/e28694b3bcc7c552bead9139615a67d9.pdf) 1.2MB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 [Electrophysiologic Assessment of Aspects of Language in a Child With Congenital Disorder of Glcosylation - A Case Study - Honours Thesis Acadia University 2013.pdf](https://cloud-1de12d.becdn.net/customfile/c57f95976de64de5d8f25db76691c014.pdf) 1.3MB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 **The following links are to relevant medical publications relating to ALG9-CDG:**  [Frank, C.G., C.E. Grubenmann, W. Eyaid, E.G. Berger, M. Aebi, and T. Hennet. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type 1L. *The American Journal of Human Genetics*. 2004: 75**:** 146-150](https://pubmed.ncbi.nlm.nih.gov/15148656/). [Weinstein, M., E. Schollen, G. Matthijs, C. Neupert, T. Hennet, C.E. Grubenmann, C.G. Frank, M. Aebi, J.T. Clarke, A. Griffiths, L. Seargeant, and N. Poplawski. 2005. CDG-1L: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. *American Journal of Medical Genetics.* 2005: 136**;** 194-197](http://www.ncbi.nlm.nih.gov/pubmed?term=CDG-1L%3A%20An%20infant%20with%20a%20novel%20mutation%20in%20the%20ALG9%20gene%20and%20additional%20phenotypic%20features.target=). [Frank, C.G. and M. Aebi. ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis. *Glycobiology.* 2005: 15: 1156-1163](http://www.ncbi.nlm.nih.gov/pubmed?term=ALG9%20mannosyltransferase%20is%20involved%20in%20two%20different%20steps%20of%20lipid-linked%20oligosaccharide%20biosynthesis.target=). [Vleugels, W., L. Keldermans, J. Jaeken, T.D. Butters, J.C. Michalski, G. Matthijs, and F. Foulquier. Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-1L) patient. *Glycobiology.* 2009: 19**;** 910-917](https://pubmed.ncbi.nlm.nih.gov/19451548/). [Haeuptle, M.A. and T. Hennet. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. *Human Mutation.* 2009: 30**;** 1628-1641](https://pubmed.ncbi.nlm.nih.gov/19862844/). [Tham, E., E.A. Eklund, A. Hammarsjo, P. Bengtson, S. Geiberger, K. Lagerstedt-Robinson, H. Malmgren, D. Nilsson, G. Grigelionis, P. Connor, P. Lindgren, A. Lindstrand, A. Wedell, M. Albage, K. Zielinska, A. Nordgren, N. Papadogiannakis, G. Nishimura, and G. Grigelioniene. 2015. A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbacg-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. *European Journal of Human Genetics.* 2015: 1-10](https://pubmed.ncbi.nlm.nih.gov/25966638/). [AlSubhi S, A AlHashem, A AlAzami, K Tlili, S AlShahwan, D Lefeber, FS Alkuraya, B Tabarki. Further delineation of the ALG9-CDG phenotype. JMID Reports. 2009: )ct 10. \[Epub ahead of print\]](https://pubmed.ncbi.nlm.nih.gov/26453364/) - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - Background - Publications & Posters - [CDG-1L Frank Am J Human Genet 2004.pdf](https://cloud-1de12d.becdn.net/customfile/bea23238d8e8359af59f3d104b991e7a.pdf) 390.9KB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 - [CDG-1L Weinstein Am J Med Genet 2005.pdf](https://cloud-1de12d.becdn.net/customfile/d62635cf98519f552a013bc2611c12ea.pdf) 92.5KB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 - [CDG-1L Frank Glycobiology 2005.pdf](https://cloud-1de12d.becdn.net/customfile/36d151ef2266f7ba16a7183a67507544.pdf) 289.9KB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 - [CGD-1L Vleugels Glycobioloogy 2009.pdf](https://cloud-1de12d.becdn.net/customfile/c43098c137214ab04d78bbf6192b89f2.pdf) 459.1KB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 - [CDG Update Haeuptle Human Mutation 2009.pdf](https://cloud-1de12d.becdn.net/customfile/d3b759ddd0b7e737ada0ea77bffb2f66.pdf) 620.9KB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 - [ALG9 Pathogenic Variants & Skeletal Dysplasia Tham Euro J Hum Genetic](https://cloud-1de12d.becdn.net/customfile/34ead745d6037076c768ee2c7db83475.pdf) 2015.pdf 2.4MB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 - [ALG9-CDG Further Delineation Al Subhi JIMD Reports 2015.pdf](https://cloud-1de12d.becdn.net/customfile/11066473bd063849125ba4b591e59efe.pdf) 191.2KB![](https://img-fl.nccdn.net/Shared/Images/space.gif?V=3a7bd2b)Apr 20, 2020 - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/awareness ### Title: Awareness ### Page ID: 2054631 ### Content: ### Online Public Petition directed to the World Health Organization to declare May 16th as the Annual World CDG Awareness Day ### Awareness **"Awareness is like the sun. When it shines on things, they are transformed". - Thich Nhat Hanh** You can support our public petition publicly available during February and March 2016 at: [https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th](https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th) **The necessary documentation for CDG patient advocacy groups, their representatives, families, friends and professionals to support this public petition is found here. Please read the manifesto and use the communication material publicly available for this purpose.** AWARENESS for CDG is the key to accelerating therapeutic options! Please join us! Help us raise CDG awareness globally, in all countries of the world. Add your name to our online public petition to make May 16th the World Awareness Day for CDG! The Online Public Petition is available to sign February and March 2016 at: []( https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th.)[https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th]( https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th.)[.]( https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th.) **7 key reasons on why a World CDG Awareness Day matters:** **WE CAN MAKE A DIFFERENCE! YOU CAN MAKE A DIFFERENCE!** **Support us and Sign our Online Public Petition during the month of February 2016 and available at:** [https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th](https://www.change.org/p/congenital-disorders-of-glycosylation-cdg-world-awareness-day-on-may-16th) Given the lack of awareness of CDG, the world CDG community is taking steps to formally request that the World Health Organization (WHO) declare an Annual World CDG Awareness Day. To achieve this, an official online petition with campaigns for support from CDG patients, families, world CDG patients groups, professionals and institutions, whose signatures declare their ongoing support for this application, is being made to the World Health Organization. **Read the** **World Congenital Disorders of Glycosylation (CDG) Awareness Day Manifesto targeted to the World Health Organization (WHO):** REMEMBER, the materials may not be used for commercial or fundraising purposes. **On the occasion of celebrations during the month of February for World Rare Disease Day 2016, the CDG community has begun to disseminate the following manifesto that is directed to the WHO in which we ask for the support of people who feel concerned:** The World Congenital Disorders of Glycosylation (CDG) Patients Voice is a united community dedicated to fight against the impact of a rare disorder called Congenital Disorder of Glycosylation (CDG). If you have not heard of it, that is because it is a rare disease. The most common type of CDG , named PMM2-CDG, affects about one in 20,000 people. To date, roughly 900 patients have been accurately identified with PMM2-CDG, suggesting that many CDGs cases are under-or misdiagnosed. CDGs are serious, chronic, life-altering and often life-threatening or fatal genetic diseases impacting multiple organ systems. The type and severity of problems associated with CDG vary widely among affected individuals, sometimes even among members of the same family[\[1\]](http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMM2). Walking, jumping, climbing ladders, running, reading, talking and other common activities prove to be difficult, often impossible, in the majority of patients. The impact of this disorder goes beyond the physical manifestations of the disease. It includes economic burden, decreased productivity (both patient and caregivers), reduced social functioning, and lowered quality of life. Currently, despite rapid advances in the field of Rare Diseases Research, fewer than 5% of rare diseases have drug therapies available[\[2\]](http://criteriuminc.com/wordpress/index.php/orphan-drug-development-why-they-are-so-important/). Thus, most rare diseases, including most forms of CDG, still have no treatment options at all. Taking the risk on a drug for CDG children and adults may not promise returns as high as common drugs. Additionally, scientists are making great progress each day, but more funding for CDG research is needed. CDG patients, are among the 36 million Europeans living with rare diseases. A disease in Europe is defined as rare, also known as an orphan disease, if it has a prevalence of less than 5 per 10 000. In the USA, a disorder is defined as rare when it is one that affects fewer than 200,000 individuals, or one in 10 Americans[\[3\]](http://www.phrma.org/sites/default/files/pdf/Rare_Diseases_2013.pdf). Rare diseases are believed to affect more than twice the number of all U.S. cancer patients! At least 30 million Americans and 36 million Europeans are affected by one of almost 7,000-8,000 orphan diseases[\[4\]](http://features.blogs.fortune.cnn.com/2014/01/21/wall-streets-next-bet-cures-for-rare-diseases/). The list of rare diseases increases by about 250 each year[\[5\]](http://www.bioresearchonline.com/doc/quantifying-the-potential-value-of-orphan-drugs-0001) (an average of five new conditions discovered every week[\[6\]](http://criteriuminc.com/wordpress/index.php/orphan-drug-development-why-they-are-so-important/)). It is estimated that approximately one out of five people personally know an individual suffering from a rare disease[\[7\]](http://www.checkorphan.org/grid/news/treatment/fighting-rare-diseases-pathway-from-orphan-drug-development-to-market-access). Indeed, it has been projected that for the top 350 rare diseases, approximately 27% of patients will not reach their first birthday[\[8\]](http://www.ddw-online.com/therapeutics/p211490-challenges-and-opportunities-in-the-treatment-of-rare-diseases-spring-13.html). This highlights the huge societal impact of these diseases. You can imagine the loneliness of having CDG, a disease that most people have never heard of, for which most forms have no treatment, and that few laboratories are dedicated to finding cures. By adding Congenital Disorders of Glycosylation to the health topic list of the World Health Organisation and related governmental bodies, this will also open doors for other common disorders such as cancer! It will create awareness, access to resources and create opportunities for funding & research. **JOIN THE FIGHT!** Sign our online petition and help us make 16th May, the official **World Congenital Disorders of Glycosylation (CDG) Awareness Day** —a day that can help save lives. World Congenital Disorders of Glycosylation (CDG) Awareness Day is an initiative of the APCDG in full partnership with world CDG patient groups and representatives. Please contact us for more information: [sindromecdg@gmail.com](mailto:sindromecdg@gmail.com) \[1\] [http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMM2](http://www.genecards.org/cgi-bin/carddisp.pl?gene=PMM2) \[2\] [http://criteriuminc.com/wordpress/index.php/orphan-drug-development-why-they-are-so-important/](http://criteriuminc.com/wordpress/index.php/orphan-drug-development-why-they-are-so-important/) \[3\] [http://www.phrma.org/sites/default/files/pdf/Rare\_Diseases\_2013.pdf](http://www.phrma.org/sites/default/files/pdf/Rare_Diseases_2013.pdf) \[4\] [http://features.blogs.fortune.cnn.com/2014/01/21/wall-streets-next-bet-cures-for-rare-diseases/](http://features.blogs.fortune.cnn.com/2014/01/21/wall-streets-next-bet-cures-for-rare-diseases/) \[5\] [http://www.bioresearchonline.com/doc/quantifying-the-potential-value-of-orphan-drugs-0001](http://www.bioresearchonline.com/doc/quantifying-the-potential-value-of-orphan-drugs-0001) \[6\] [http://criteriuminc.com/wordpress/index.php/orphan-drug-development-why-they-are-so-important/](http://criteriuminc.com/wordpress/index.php/orphan-drug-development-why-they-are-so-important/) \[7\] [http://www.checkorphan.org/grid/news/treatment/fighting-rare-diseases-pathway-from-orphan-drug-development-to-market-access](http://www.checkorphan.org/grid/news/treatment/fighting-rare-diseases-pathway-from-orphan-drug-development-to-market-access) \[8\] [http://www.ddw-online.com/therapeutics/p211490-challenges-and-opportunities-in-the-treatment-of-rare-diseases-spring-13.html](http://www.ddw-online.com/therapeutics/p211490-challenges-and-opportunities-in-the-treatment-of-rare-diseases-spring-13.html) **Be part of the international movement and use the official World Congenital Disorders of Glycosylation (CDG) Awareness Day communication materials found here!** REMEMBER, the materials may not be used for commercial or fundraising purposes. **Our arguments are stated in a Manifesto available soon in 4 languages in which we ask for the support of people who feel concerned.** How to get the Email signature that supports 16th May as the World Congenital Disorders of Glycosylation (CDG) Awareness Day? How to get the Email signature that supports 16th May as the World Congenital Disorders of Glycosylation (CDG) Awareness Day? - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - Be the platform to promote CDG awareness, visibility and advocacy efforts - Promote and synergize CDG research - Be the global driver to boost coordinated and concerted actions to confront CDG as a critical global health issue 1. The most common type of CDG , named PMM2-CDG, affects about one in 20,000 people. So far, roughly 900 patients have been accurately identified with PMM2-CDG. This suggests that many CDGs cases are under-or misdiagnosed. 2. Many CDG patients and their family members wait a long time until their condition is diagnosed, partly because many clinicians do not recognise the conditions and do not interpret the symptoms correctly. 3. The close family and friends of a CDG patient, who are wonderfully supportive, most probably are not able to name what our beloved CDG patients have, or how it impacts their body. 4. The probability of finding a health care provider knowledgeable of CDG is extremely low. 5. Most forms of CDG do not have a treatment. Thus, quality of life and survival of CDG patients depend on research and needed funding for the research. 6. Given the scarce research funding currently available for rare diseases, diseases with a lack of awareness such as CDG, represent a particular challenge for researchers working in this area. 7. The research, the funding, and hopefully, the cure will come, but not if CDG remains unknown within society! A **World CDG Awareness Day** is urgently needed! 1. [**Manifesto in English**](https://cloud-1de12d.becdn.net/customfile/4495263d62d8cf289f5b2de85a3c646b.pdf) 2. [**Manifesto em Português**](https://cloud-1de12d.becdn.net/customfile/171937f029e1dd5986cb789db5fadb9c.pdf) 3. [**Manifesto en Español**](https://cloud-1de12d.becdn.net/customfile/48c5a6dc16fca5a6048ef08dbcbc3323.pdf) 4. [**Manifeste en Français**](https://cloud-1de12d.becdn.net/customfile/81e2d6fc3725e04c0c4f6ec944a33b4e.pdf) 5. [**Template Statement of Support from Patient Associations and their representatives to support World CDG Day**](http://www.apcdg.com/uploads/4/1/1/9/41196831/statement_of_support_from_associations_to_support_wcdg_day_fv.pdf)[](http://www.apcdg.com/uploads/4/1/1/9/41196831/statement_of_support_from_associations_to_support_wcdg_day_fv.pdf) 6. [**Template Statement of Support from Professionals to support World CDG Day**](http://www.apcdg.com/uploads/4/1/1/9/41196831/statement_of_support_from_professionals_to_support_wcdg_day_fv.pdf) 7. [**Letter collecting signatures to support 16th May as annual World CDG Awareness Day**](http://www.apcdg.com/uploads/4/1/1/9/41196831/leaf_collecting_signatures_16th_may_as_annual_world_cdg_day.pdf) [](http://www.apcdg.com/uploads/4/1/1/9/41196831/leaf_collecting_signatures_16th_may_as_annual_world_cdg_day.pdf) 8. **Letter from Pf Dr to WHO supporting the Declaration of World Congenital Disorders of Glycosylation (CDG) Awareness Day (soon available)** 1. An email signature shows your support to this initiative. 2. An email signature is a promotion tool for our cause. 3. An email signature is also a social networking tool. - The big advantage of Facebook advertising is how super-targeted we can make it. - We will see our potential reach. - It snowballs. - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/news ### Title: News ### Page ID: 2054859 ### Content: **Foundation Glycosylation is proud to serve as a Gold Sponsor of the 2026 CDG Scientific & Family Conference.** As a longstanding partner, TheFoG is honoured to support CDG CARE and the global CDG community. Presented by CDG Care, the conference features a dynamic program of cross-disciplinary sessions designed to foster collaboration, inspire new ideas, and showcase progress across all CDG types. This year's conference will be held in Orlando, Florida, April 24-26, 2026. **The FoG is proud to have sponsored the ASBMB O-GlcNAc Meeting,** July 11-13 2025 in North Carolina. 2024 marked the 40th anniversary of the discovery of protein O-GlcNAcylation. Since its discovery, the importance of post-translational protein O-GlcNAcylation has been recognized across diverse biomedical research areas. It plays a pivotal role in helping us understand how environmental factors impact signaling pathways and the onset of a range of diseases. This modification of proteins found in the nucleus, mitochondria and cytoplasm has far-reaching implications for governing cellular biology, including epigenetics, cell cycle regulation, proteostasis and more. Additionally, disruptions in O-GlcNAcylation are associated with cardiovascular disease, diabetes, neurological disorders and various forms of cancer. Despite 40 years of research and over 15,000 substrates described to date, O-GlcNAcylation remains incompletely understood. Recent breakthroughs in identifying the specific functions of proteins and their connections to many diseases have positioned it as an emerging field with important implications for physiology and disease. This meeting drew experts from around the world to discuss the O-GlcNAc cycling enzymes and the O-GlcNAc modification in modulating protein function in basic biological processes as well as in disease states, including diabetes, cancer, cardiovascular disease and neurological diseases.  **The FoG was a proud sponsor of the OGT Conference 2024** The OGT Conference 2024 brought together top researchers, clinicians, and professionals from around the globe to explore the latest advancements in the fields of O-GlcNAc Transferase X-Linked Intellectual Disability (also known as OGT-CDG). This premier event provided an unparalleled platform to discuss cutting-edge research, potential novel therapies, and innovative technologies that are shaping the future of OGT-XLID treatment and diagnosis. THANK YOU [**CDG CARE**](https://cdgcare.org/) for having shared this exciting information about **Maggie's Pearl**... STURGIS, Mich., March 18, 2024 - Maggie's Pearl, a collaboration between Perlara, Maggie's Cure, and the Mayo Clinic, announced that the Phase III trial of oral epalrestat therapy in pediatric subjects with PMM2-CDG (formerly, Congenital Disorder of Glycosylation Type 1a) has been green-lighted to transition to open label. The FoG is proud to have been a **PLATINUM SPONSO**R for the Sanford Burnham Prebys Rare Disease Day Symposium & CDG Family Conference, which was held on March 1, 2024 in San Diego, CA. The 2024 event was organized by Sanford Burnham Prebys in partnership with the Sanford Children's Health Research Center and CDG Care. The symposium continued to focus on "CDG Models and Therapy". Researchers, clinicians, patients, family members, industry experts, and inspirational advocates brought their talents and special stories to Mission Bay in San Diego, CA. Isabel Kromer lived twenty-eight years before receiving her diagnosis of a genetic disorder so rare that there have only been 22 cases reported to date. Today, we know that Isabel suffers from a rare type of congenital disorder of glycosylation (CDG), that is caused by a mutation in the PIGN gene – called PIGN-CDG. However, for almost three decades, Isabel’s parents, Elizabeth and Rob Kromer, advocated for their daughter’s array of medical conditions to be recognized for what they are – a reality that is unfortunately not so rare for many families in similar situations across the globe. Elizabeth and Rob explained it this way, “As we travelled on our journey with Isabel, what a difference it would have made for us to have had Isabel's seemingly disparate medical concerns recognized for what they were - manifestations of CDG. As it was, each of Isabel's conditions was addressed separately as we learned anything, or as she went into some kind of crisis. As parents we often had to push for diagnostics and assessments.” Living in rural Prince Edward Island, at the age of 7 years, Isabel was diagnosed clinically with Angelman Syndrome – another genetic disorder that encompasses many of the same symptoms as some sub-types of CDG, including seizure disorders and developmental delay. Chromosomal and genetic testing were performed on Isabel to the extent available at the time, and the results were inconclusive. However, Isabel was given this provisional diagnosis of Angelman Syndrome based upon her clinical presentation, in the absence of definitive lab results. The *PIGN* gene, whose mutation is responsible for Isabel’s sub-type of CDG, was not discovered until 2011, meaning that any genetic testing performed prior to this would not have revealed that what Isabel was actually suffering from was PIGN-CDG. Since the discovery of the *PIGN* gene and its link to PIGN-CDG, there have been just 22 reported cases globally, and Isabel Kromer is by far the oldest. The late discovery of the PIGN gene, made for a long and difficult road for the Kromer family, toward a proper diagnosis for Isabel. In speaking with Elizabeth and Rob Kromer, they shared details on their tumultuous medical journey with their daughter. “Our determination to see Isabel’s unique medical situation identified if possible, was often sadly met with direct opposition. Several physicians didn’t recognize her extreme medical fragility, and openly expressed that the problem lay with us, rather than with Isabel, in that we couldn’t handle having a child with Isabel’s disabilities.” The Kromers often encountered medical professionals who had no desire to pursue Isabel’s case, due to how challenging it was to come to a clear diagnosis. For decades, the Kromers travelled across Canada and the United States for consultations with specialists and to undergo further testing, in hope of finding answers. It was when a new neurologist took over Isabel’s care just a few years ago, that further testing led to a proper diagnosis. At their initial meeting with this doctor, they discussed Isabel’s medical history in depth, and recalled all of the years of testing she had undergone. This was when it was suggested that the Kromers pursue further genetic testing for Isabel, because of the drastic strides that had been made in the field of genetics over the past 20 years. The Kromers gladly took this suggestion and began working with the Maritime Medical Genetics Service (MMGS) at the IWK Children’s Hospital in Halifax, Nova Scotia. After a refined search, the Genetics Team had narrowed the possibilities down to 285 rare genetic disorders that they believed could account for Isabel’s condition. After seeking permission from the Kromer’s to pursue Isabel’s case further, state-of-the-art genetic analysis was performed at a lab in Finland, and her diagnosis of PIGN-CDG followed. For Isabel’s parents, having a clear diagnosis makes an incredible difference, as it gives them the ability to continue to pursue their daughter’s unique medical condition in a much more focused, and directed way. They are also hopeful that Isabel’s diagnosis will provide guidance for those facing similar struggles, and perhaps lead the way toward further research on PIGN-CDG. Ideally, Isabel’s long and difficult journey, and advances in genetic testing, may prevent another family from waiting three decades for an accurate diagnosis. The COVID-19 pandemic was unnerving for everyone, but especially for individuals living with a weakened immune system. Elizabeth and Rob note that they have navigated the COVID-19 pandemic successfully. “When in doubt, we have erred on the side of caution, as Isabel is severely immunocompromised. Isabel is up to date on all of the recommended COVID-19 vaccines for someone who is immunocompromised. As restrictions have been lifted at this time, Rob and Elizabeth say they are once again getting back to outings with Isabel. The Kromer family is enjoying the family outings, mentioning that Isabel is a very sociable person, and she loves to shop. Isabel celebrated her 32nd birthday in November of 2022. Elizabeth and Rob explain that Isabel's seizures have been less frequent over the past few years with medication changes and adjustments. They are grateful for their daughter’s diminished seizure response, and they are hopeful this will last. For over two decades, doctors have diagnosed CDGs based on specific symptoms and limited screening tools, but the severity and prognosis can vary greatly depending upon the specific type of CDG. Specific symptoms and their severity can vary among individuals with the same CDG type and even among affected individuals within the same family. Because most types of CDG have only been reported among a handful of individuals and the number of types of CDG continues to expand, it is difficult for doctors to develop an accurate picture of associated symptoms and prognosis. Many of the symptoms of CDG are similar to those of other conditions, and patients with CDG are often misdiagnosed initially with different disorders, as was the case with Isabel. It is now recognized that CDGs should be considered as a possible diagnosis whenever a person has unexplained symptoms affecting multiple body systems or when a single health problem cannot be otherwise explained. Because many CDG types have only recently been identified, and because so many are rare, it is thought that many people with CDG may remain undiagnosed or misdiagnosed. It is not an overstatement to say that having an accurate diagnosis can change the story for an individual and family impacted by a rare disorder. Lab-based diagnostics for CDG begins with a highly sensitive serum transferring iso-electric focusing assay to screen for abnormal glycosylation. With a blood sample, this test can screen for most CDGs. The transferrin assay is positive in about 60% of CDG diagnoses, however,can show normal results with certain sub-types of CDGs. Therefore, further testing may be required to accurately screen and then diagnose an individual with CDG. To complement the transferrin assay, DNA sequencing-based testing can be used to confirm a diagnosis and to identify the specific type and sub-type of CDG. Confirmatory testing often involves genetic testing called next generation sequencing (NGS). For a full description on the CDG diagnostic process, visit https://www.cdghub.com/about/#diagnosis5 . Genetic testing has been part of medical practice since the early 1990’s. Sequencing enables doctors with the ability to search for mutations that cause known disorders, such as Isabel’s. With a single test, NGS allows for analysis of all the genes known to be associated with CDG, and this analysis can pinpoint the specific CDG sub-type. Having a coordinated approach to testing and diagnosis means that the path to analysis with a confirmatory result is more efficient and accurate. This technology can also help to identify other new and previously undiagnosed CDGs. At the time of Isabel's birth, CDG was a newly discovered genetic disorder. The diagnostic tools that exist today were not available, making a diagnosis of CDG extremely difficult. Even today, diagnosing CDG can be difficult as there is a lack of simple screening methods for many CDG sub-types, as well as a lack of awareness and information regarding CDGs in the medical community. We hope that establishing comprehensive testing for CDGs in Canada will help to develop a more accessible and robust diagnostic path that will allow doctors to provide a timely diagnosis. Our goal is that in the near future, this unique opportunity will be used as a catalyst to bring together experts from different medical and scientific fields in an effort to accelerate the discovery of treatments and build a stronger CDG community in Canada and around the globe. Foundation Glycosylation is proud to have been a Gold Sponsor for the 6th World Conference on CDG (June 2023). The in-person 6th World Conference on CDG took place at NOVA School of Science and Technology, FCT NOVA in Caparica, Portugal. It is the largest ever global gathering of People Living with CDG (PLwCDG), caregivers, healthcare professionals, and the pharmaceutical industry. It is the most complete and resourceful international conference focused entirely on CDG. **THE FUTURE OF MEDICINE - Sanford-Burnham Medical Research Institute** We invite you to watch this interesting video with Hudson Freeze, Ph.D of Sanford Burnham Prebys (January 2014) - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/resources ### Title: Resources ### Page ID: 2054922 ### Content: ### Resources World Congenital Disorders of Glycosylation Organization (WCDGO) is the unified voice of people living with Congenital Disorders of Glycosylation (CDG). We are here to transform the world’s understanding of CDG and advocate for those living with CDG. WCDGO provides a strong common voice with governments, researchers, clinicians and industry to promote research, diagnosis, treatment and services for CDG. CDG Families Canada is a group that has been created to provide CDG parents, family members, and caregivers, with a safe and caring place to share ideas, ask questions, vent their frustrations, help navigate the Canadian healthcare system, seek out support and advice, and to know there are virtual shoulders to lean on. CDG CARE (Community Alliance and Resource Exchange) is a nonprofit 501(c)(3) organization founded by parents seeking information and support for a group of disorders known as Congenital Disorders of Glycosylation (CDG). Our mission is to promote greater awareness and understanding of CDG, to provide information and support to families affected by CDG, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG. CDG Hub is a nexus for curated information on more than 170+ CDG types, clinical trials, research models and resources, including a database of CDG medical experts and researchers worldwide. CDG Hub aims to unite the global CDG community, increase public awareness, and inspire collaborative research to advance scientific discoveries. The Portuguese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR) is a family non-profit organisation entirely run by volunteers. Their efforts are focused on forming a multi-stakeholder network, aimed at bringing together families, patient organisations, clinicians, researchers, healthcare professionals and pharmaceutical companies.  Dear CDG families, friends, relatives and acquaintances,  Welcome to the new website of the Federal Association for CDG Syndrome (BDG) eV, aka Glycokids! Here you'll find current information about our work as well as information about the syndrome itself.  We are very grateful to have had the opportunity to host your communities and to provide information and support for rare disease families around the world. Thank you for collaborating to foster such a kind and supportive environment. Research Network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation. **The following researchers have assisted with Foundation Glycosylation research projects:** - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - Website Links - Our Researchers - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/events ### Title: Events ### Page ID: 2055046 ### Content: Thank you to the Saint John Rapids Lacrosse Club for hosting a fundraiser in support of Foundation Glycosylation during the weekend of June 17th and 18th. Established in 2012, The FoG Cup has been Foundation Glycosylation's most outstanding fundraising event... that's why we have a page dedicated to the antics, fun and friendships.  Congratulations to our winners! The raffle raised $500. We thank Scott Pellerin, director of player development for the Toronto Maple Leafs for donating the signed Morgan Reilly jersey. We thank Ernie Tremblay for donating the signed and framed Wayne Gretzky retirement picture. Farrah was diagnosed with CDG 1A at the age of eight months. She lives in Fort Nelson, British Columbia where she battles this rare disorder. Her parents Jason and Kelsey had bracelets made to help fund research and to raise awareness of CDG. Please help support Farrah and other children who live with CDG by purchasing one of these bracelets for $5. All profits will go directly to CDG research. To get your bracelet please contact [kelsey-prouse@hotmail.com.](mailto:kelsey-prouse@hotmail.com.) Dr. Webster (middle) with Dr. Perez (right), Jeff McAloon (left), and a tremendous donation from Farrah Fights CDG. Farrah in Fort Nelson, British Columbia. Farrah in Fort Nelson, British Columbia. Farrah in Fort Nelson, British Columbia. Susie and Tim Wanamaker's (currently residing just outside Pittsburgh, PA) life is defined by 3 amazing children. Madon, age 4, was diagnosed with CDG-ALG8 (1h) in December 2014. CDG -ALG8 is a very rare form of CDG with approximately only 10 out of 25 children diagnosed still living. Madon is the youngest of 3 wonderful siblings. Madon faces medical as well as developmental obstacles in his life. He is beginning to walk independently; However, walks best with supports. He uses few verbal words, but uses sign language. He is currently learning to use an iPad or pictures to talk. He understands most of what you say to him. Madon has many medical barriers in his life: bleeding and clotting disorder, epilepsy, elevated liver counts, pericardial effusion and newly diagnosed: sub aortic membrane. Madon loves people, music, sports, and being a part of the action in this busy house. His siblings are wonderful. His brother TJ loves people, hockey, sports, and just finished a fundraiser in honor of CDG. His sister, Maya is a great helper to Madon. She loves music, volleyball and traveling.  As a family, we continue to raise awareness of CDG with an ongoing fundraiser: vinyl CDG stickers. Our wonderful friend makes them for us at [www.facebook.com/signedbychelle](https://www.facebook.com/signedbychelle). For more information on CDG vinyl stickers, please contact [mcwana@icloud.com](mailto:mcwana@icloud.com). The 5th annual "Blue Sky Collective" was held on August 15th, 2015 and featured a variety of local bands. Approximately $6,500 was raised throughout the day and all proceeds were generously donated to the FoG in memory of Scott "The Crow" Crawford. This money will support research for therapies to help Maria Webster and others living with Congenital Disorders of Glycosylation (CDG). Thank you to all who attended and donated! A special thanks to Jason and Cora Underhill for hosting the event and Mexicali Rosa's for donating such great food. The Port City Dance Academy has presented *The Nutcracker & the Girl With the Shell* at the Saint John High School each fall from 2012-2014. These shows have helped with CDG awareness in the local community and each year a portion of the proceeds are donated to the FoG. The performances have raised about $1750 (2012), $1200 (2013), and $750 (2014). Thank you for your hard work and generosity! Photographs of *The Nutcracker* are located below.  Maria's kindergarten classmates at Lakefield Elementary School crafted and sold decorative cards to help raise money for the FoG. Her class was able to collect over $600! Thank you for your hard work and thoughtfulness! Foundation Glycosylation extends a heartfelt thank you to Dick Emmerson of Emmerson Pools and to all those who give generously to the FoG. - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/contact ### Title: Contact ### Page ID: 2055356 ### Content: #### Get in Touch ###### **Mail:** ###### Foundation Glycosylation ###### Saint John Regional Hospital Foundation ###### Level One, Saint John Regional Hospital ###### 400 University Avenue ###### P.O. Box 2100 ###### Saint John, New Brunswick, Canada ###### E2L 4L2 ###### **Phone:** ###### (506)-648-6400 ###### (506)-648-6002 ###### **Email:** ###### Duncan.Webster@HorizonNB.ca ###### SJRH.Foundation@HorizonNB.ca - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/the-fog-cup ### Title: The FoG Cup ### Page ID: 2055499 ### Content: ### **2014 FoG Cup** ### **2013 FoG Cup** ### 2012 FoG Cup The FoG Cup was established in 2012 as an opportunity for old friends to get together and play ball hockey for a good cause. The funds raised have supported ongoing projects and research of Congenital Disorders of Glycosylation (CDG). Foundation Glycosylation extends deep gratitude to Terence Sullivan, devoted organizer of the annual FoG Cup, and tremendous appreciation to the great many friends and supporters who assisted with or participated in the FoG Cup. Participants in the FoG Cup X took to the ice instead of the floor, with some second generation players making it onto the ice for the first time! **2022 Champions:** Mike Wilson, Jeff MacKay, Duncan Webster, Peter Christian, Kayden Christian, Adrian Tompkins, and Chris Hoyt. In a pandemic-free world we would have been celebrating the annual Fog Cup IX—playing ball hockey with great friends. Unfortunately, that was not the case in 2020. So we asked our FoG friends, instead of making donations and paying registration fees for the FoG Cup, to support local small businesses in their time of need. Our loyal ball hockey enthusiasts stood, in full force, with local business owners during that difficult, uncertain time. On behalf of Foundation Glycosylation, we extend a sincere thank you to everyone who participated in the 2020 “FoG Cup Give Back” by supporting small local businesses. Hance Colburne, with Horizon Health, created a video to provide insight into Foundation Glycosylation and what the FoG cups means to us. Check out the video here: [**The FoG Cup video, https://www.youtube.com/watch?v=gF4sY8kHfnQ**](https://www.youtube.com/watch?v=gF4sY8kHfnQ) 106 participants showed up to participate in the 2019 FoG Cup. There were 28 games, 4 shootout wins, and 2 championship teams. Participants raised over $14,000 for Foundation Glycosylation (the FoG). **2019 Champions:** Carter Hutton, Cole Fraser, Jake Fraser, Ben Mackay, Noah Webster, and Liam Sullivan, with Coaches, Joe Webster, Quinn Sullivan, and Isaak Somers. The 2018 FoG Cup brought another great day of ball hockey, raising over $7000 for The FoG. **2018 Champions:** Caleb Patterson, Duncan Webster, Stephen Hickey, Parker Jones, Troy Mortimer, Adrian Tompkins, Tracy Scott, and Liam Sullivan. 2017 marked the 6th annual Millidgeville FoG Cup Challenge, and the 4th annual Kids FoG Cup. The 2017 Millidgeville FoG Cup was held on June 10th at Millidgeville North School in Saint John, New Brunswick. The Kids Cup Tourney saw roughly 40 kids challenging for the Cup, while the adult tournament saw 25 fine gentlemen compete for the honour of having their names engraved on the FoG Cup. *Foundation Glycosylation* raised over $8,000 dollars to support families and children in meeting the challenges of CDG, support glycosylation research, and raise awareness of CDG in the community and to support glycosylation research. **2017 Adult FoG Cup Champions:** (Back row) Mike Higgins, Shane Somers, Ian Pledge, Ron Lockhart, Rob Landers, Troy Mortimer, Ben MacKay, (Front row) Martin MacKinnon, Duncan Webster, Jamie Margaris, Robbie George, and Dimitri Papadopoulos. **2017 Youth FoG Cup Champions:** **"Team Snack Pack"**: Nick Hersey, Parker Jones, Noah Tait, Nick Khitab, Charlie McPhee, Zack Watson, Anders Good. Coach: Travis Thank you all who participated in the 2016 FoG Cup! There were 50 youngsters who battled for the **Kids FoG Cup** and 25 guys competing for the 2016 **Millidgeville FoG Cup**. Through large numbers and great generosity, we raised over $7,500, making this the most successful tournament to date! Thank you to Dennis Kim for providing us with great pictures from this 2016 tournament! **2016 Adult FoG Cup Champions:** Greg MacIntyre, Andrew Lund, Justin Bowie, Greg MacKay, Dimitri Papadopoulos, and Jamie Patterson (goalie). **2016 Youth FoG Cup Champions:** "Mean & Ugly” Simon Kim, Brodye Roberts, Mathieu Malone, Morgan MacKinnon, Matthew Higgins, Aidan MacFarland, Aidan Hazen, Grant Richard, and Martin MacKinnon (coach). The 2015 FoG Cup Challenge was a huge success, raising over $2,500! Thank you to all who participated and congratulations to the Adult FoG Cup Champs, led by ex-NHLer Randy Jones, and the Youth FoG Cup Champs, the "Terminators". **2015 Adult FoG Cup Champions**: Adrian Tompkins, Randy Jones, Timmy McAdam, Cody Millet, Duncan Webster, John Hazen, Andrew Lund **2015 Youth FoG Cup Champions**: Noah Webster, River Lanz, Jacob MacDonald, Daniel MacDonald, Riley Rooney, Matt McDade, Kyle Fenwick, Matthew Weaver, Colton Kingston, Geoff (coach) The 3rd annual FoG Cup saw the addition of a Youth Division. Congratulations to the Millidgeville Crew, led by the Tompkins boys. Congrats also to the Youth champions, with all star goaltender, Liam Sullivan, between the pipes. Thanks to all for a great day. **2014 Adult FoG Cup Champions:** Scott Mitchell, Martin MacKinnon, Chris Stevens, Trevor Tompkins, Adrian Tompkins, Paul Higgins, Robbie George, Chad Sooly, Mike Wilson **2014 Youth FoG Cup Champions:** Brad Gallant, Rohan Laverne, Grant Richards, Joey McPhail, Alex Cyr-Ouelette, Adam Boyd, Liam Sullivan, Greg MacIntyre (coach) The second annual FoG Cup ball hockey tournament was a tremendous success, with forty players and six teams. A good time was had by all. **2013 FoG Cup Champions:** Luke Johnson, Jamie Patterson, Jamie Margaris, Robbie George, Shane Nesbitt, Brian Kerr, and John Hazen. The inaugural FoG Cup was hosted in the spring of 2012 at Millidegville North High School. The large turnout included 60 of Saint John's finest athletes who were eager to compete in the eight-team FoG Cup tournament. At the end of a fun afternoon, the first ever FoG Cup champions were crowned. **2012 FoG Cup Champions:** Justin O'Toole, Greg MacIntyre, Jamie Bennett, Terence Sullivan, Jamie Margaris, Adrian Tompkins - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/purvi-trivedi ### Title: Purvi Trivedi ### Page ID: 2055919 ### Content: ### **About Purvi** Purvi has a Bachelor in Pharmacy and Masters in Pharmacology. Her training was in India and she now works in Atlantic Canada. Her early research involved screening bioactive compounds targeting cardiovascular diseases. Her research in this field is ongoing as she works toward her MSc, exploring the molecular level of cardiovascular pathogenesis in Dr. Pulinilkunnil’s lab at Dalhousie Medicine New Brunswick in collaboration with the Department of Biochemistry and Molecular Biology at the University. As a component of her special topics course, she had the opportunity to work for the FoG. During her time working for the FoG, she wrote a review of CDG. This review demonstrates a thorough understanding of glycosylation disorders and helped to establish a more meaningful connection with Maria. During her work, Purvi also had the opportunity to standardize the total protein extraction from wild type and ALG9 mutant yeast allowing an analysis of protein expression employing gel electrophoresis. This work provided the foundation for further work by 2014 FoG summer students Tess Robart and Alyson Zwicker. The two developed a procedure for endoplasmic reticulum isolation from wild type and ALG9 mutant yeast strains.  - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") --- ## URL: https://www.thefog.ca/protected-collection-item ### Title: Protected Page ### Page ID: 4432756 ### Content: In order to view the page, please enter the password below: --- ## URL: https://www.thefog.ca/donate ### Title: DONATE ### Page ID: 4634762 ### Content: Your donation to Foundation Glycosylation is administered by the Saint John Regional Hospital Foundation, and the entire amount will support Foundation Glycosylation. Your charitable, tax-deductible receipt will be sent from SJRHF. - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE") - [Home](/ "Home") - [About](/about "About") - [Research](/research "Research") - [News](/news "News") - [Resources](/resources "Resources") - [The FoG Cup](/the-fog-cup "The FoG Cup") - [Events](/events "Events") - [Contact](/contact "Contact") - [DONATE](/donate "DONATE")