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.