Genetics Publications

Recently Published articles of Interest

Genotype-specific Approaches to Therapy in Childhood (GATC)

The Genotype-specific Approaches to Therapy in Childhood (GATC) program represents a trans-disciplinary consortium of nationally and internationally recognized experts from hospitals, universities, research institutes, children's advocacy groups and Health Canada. Together, they provide diverse expertise in pharmacogenomics, proteomics, genetics, pediatric pharmacology, and pharmacokinetics. Drawing on existing expertise in clinical genomics, genetics and surveillance systems for adverse drug reaction screening, the GATC program will apply innovative large-scale genomics to define the genes that cause, or are predictive of, adverse drug reactions in childhood. Genome Canada

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Hereditary hemochromatosis genotypes and risk of ischemic stroke

Neurology. 2007 Mar 27; 68(13) : 1025-31

Hereditary hemochromatosis H63D homozygosity predicts a two- to threefold risk of ischemic cerebrovascular disease and ischemic stroke.
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A mutation in the hemochromatosis gene (HFE) has been associated with a three times higher risk of stroke in a group of 9000 people in Denmark. The H63D mutation (His63Asp) changes the size or function of the HFE protein so that it can't play a part in regulating the amount of iron that enters cells. If the HFE protein does not bind to the transferrin receptors at the cell surface, excessive amounts of iron enters the cell and leads to iron overload. Those with two copies of the H63D HFE gene variant had a 180% great risk of stroke than those with two normal copies. The exact role of the HFE gene in stroke risk isn't understood.
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