July 15 & 16  - Leuven, Belgium






FoG Raffle

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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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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 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