Posts Categorized: Genetics in Canada

EARS2 associated mitochondrial leukoencephalopathy

Posted by & filed under Genetics in Canada.

I have seen several patients with leukoencephalopathy and biochemical markers highly suggestive of mitochondrial disease. However, in most of these cases the mtDNA sequencing was non-diagnostic,  and I find it difficult to determine how to approach testing for the nuclear genes in these cases. However sometimes the MRI imaging can point towards right direction.  Steenweg et al., in a recent […]

Genetics in Canada

Posted by & filed under Genetics in Canada, Websites.

Canadian College of Medical Geneticists  Canadian Association of Genetic Counsellors The Garrod Association Canadian Directory of Genetic Support Groups Genome Canada Canadian Gene Cure Foundation Royal College of Physicians and Surgeons of Canada (documents available for Medical Genetics) Genetics Society of Canada The Human Metabolome Project The Canadian Resident Matching Service Humgen, your resource concerning […]