July 15 & 16  - Leuven, Belgium



Our Mission

Foundation Glycosylation (the FoG) supports research for 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.



Congenital Disorder of Glycosylation


Maria Webster is a ten year old girl with a rare enzyme deficiency known as Congenital Disorder of Glycosylation (CDG). Her sub-type of CDG is even more rare, known as ALG9-CDG. She is content and beautiful but is unable to walk, has very limited ability to communicate, and experiences severe cognitive delays and frequent seizures. Although rare, recognized cases of CDG are growing in number in Canada and across the globe.

There is currently no direct treatment available for the underlying condition. However, patients and there families are working closely with researchers and healthcare teams to identify and develop a cure for this devastating disorder. Foundation Glycosylation is funding and supporting research in Atlantic Canada in collaboration with research teams in the United States and Europe. To learn more about CDG click here.




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Lemonade Sales in Pennsylvania

On July 6th, a lemonade stand in Cranberry Township, Pennsylvania raised funds to support CDG Research. The stand was set up by TJ (age 10) and Maya Wannamaker (age 13) and their neighbours Annabelle (age 12) and Lucas Neuschwander (age 14).

Maya and TJ's brother, Madon (age 5) was diagnosed with ALG8-CDG (1h) in December 2014. ALG8-CDG is a rare form of CDG with approximately 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 a sub-aortic membrane.  Madon loves people, music, sports, and being a part of the action in his busy house.  



 

Madon's brother TJ and his sister Maya worked to raise funds to support CDG research and split the proceeds from the lemonade stand with Annabelle's Brain Tumour Foundation. For their hard work and effort, $240 was donated to Foundation Glycosylation.

These funds will be used to support a current project underway optimizing mass spectrometry techniques for glycan analysis. We are thankful for their efforts and their generous donation!
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Many Thanks to Dr. Lester Perez!


Lester began work for the FoG as a full time laboratory research technician in November 2015. Working in the Pulinilkunnil Laboratory, a great deal has been accomplished during his time with the FoG.  A greater understanding of the relevance of glycosylation in proteostatic and mitochondrial signaling pathways has been gained through the study of fibroblasts using transcriptomic, proteomic and high-resolution respirometry analysis. In cells with defective glycosylation, impaired protein synthesis and growth have been identified and analysed. Studies have shown a loss of anabolic signaling and down regulation of lysosomal autophagy with lysosomal dysfunction. Studies have also revealed remodelling of the mitochondrial respiration profile with concomitant disruption of the endoplasmic reticulum and lysosomal function. The data characterizes abnormalities involving endoplasmic reticulum, mitochondrial and lysosomal function at the molecular level that help to explain clinical complications associated with CDG and underscore the importance of N-linked glycosylation in health and disease.


We thank Lester for his commitment and work in glycosylation research and we congratulate Lester on his new position as Research Technician T8 with Dalhousie Medicine New Brunswick!



 Dr. Webster and Dr. Perez in the zebrafish laboratory at Dalhousie Medicine New Brunswick

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Farrah Fights CDG


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.


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 Sandford Burnham Prebys Medical Discovery Institute in La Jolla, California


CDG is a spectrum. Different subtypes of the disorder lead to different signs and symptoms. Some patients live into adulthood with minimal physical and cognitive problems. Others have more severe impairments and much shorter lifespans. The Sanford Burnham Prebys Lab near San Diego is one of the leading labs assisting with CDG diagnosis and reaserch. Hudson Freeze and his team guide patient-centred research at the Medical Discovery Institute. For the past six years, Freeze has helped to organize the Annual Rare Disease Day Symposium in San Diego where families coping with CDG can meet each other and talk with doctors and scientists knowledgeable in CDG.



 

2013 FoG