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CDRD appoints Dr. Kelly McNagny as co-scientific director - Lab Canada labcanada.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from labcanada.com Daily Mail and Mail on Sunday newspapers.
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Study reveals a new form of muscular dystrophy associated with pathogenic changes in JAG2 gene In about a quarter of patients with hereditary diseases, the cause of the disease remains unclear even after extensive genetic testing. One reason is that we still do not know enough about the function of many genes. Of the 30,000 known genes, just a little more than 4,000 have been found to be associated with hereditary diseases. At the Department of Clinical Genetics of the University of Tartu Institute of Clinical Medicine, under the leadership of Professor Katrin Õunap, patients with hereditary diseases of unclear cause have been studied in various research projects since 2016. ....
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. ....
Study reveals why intellectual disability risk for younger siblings is low Intellectual disability is most often caused by changes to the genome that take place in early fetal development and are not found in the parents’ DNA. This is why the risk of recurrence in the next sibling of the family is very small, as indicated by a study conducted at the University of Helsinki. Furthermore, Finns do not have a higher risk of inherited developmental disorders compared to other Europeans. The prevalence of intellectual disabilities, which means difficulties with learning and understanding new things, is roughly 1-2% in the population. People with a severe intellectual disability need help from others in daily activities throughout their lives. ....