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Research will test more sensitive ways to diagnose rare diseases


Imagine having a terrible medical condition and not knowing what it was.
More than 400,000 Albertans have a rare disease. Many of them face challenges getting the right diagnosis, let alone finding the right specialist and obtaining effective treatment. Some cases are deadly; others can have a major impact on a patient’s day-to-day life.
Advances in genetic screening in the last two decades mean a higher percentage of these diseases are diagnosed. But current tests which rely largely on DNA sequencing have their limitations, said Peter Kannu, associate professor and chair of the University of Alberta’s Department of Medical Genetics. ....

Sherry Taylor , Peter Kannu , Department Of Medical Genetics , University Of Alberta , University Of Alberta Department Medical Genetics , Children Health Research Institute , Disease Program , A Precision Health Seed Fund Award , Medical Genetics , Alberta Precision , Precision Health Seed Fund , Health Research Institute , Undiagnosed Disease , ஷெர்ரி டெய்லர் , பீட்டர் கண்ணு , துறை ஆஃப் மருத்துவ ஜெநெடிக்ஸ் , பல்கலைக்கழகம் ஆஃப் ஆல்பர்ட்டா , குழந்தைகள் ஆரோக்கியம் ஆராய்ச்சி நிறுவனம் , நோய் ப்ரோக்ர்யாம் , மருத்துவ ஜெநெடிக்ஸ் , ஆல்பர்ட்டா ப்ரிஸிஶந் , ஆரோக்கியம் ஆராய்ச்சி நிறுவனம் ,