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Study reveals a new form of muscular dystrophy associated with pathogenic changes in JAG2 gene


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. ....

Emily Henderson , Department Of Clinical Genetics , Broad Institute , University Of Tartu Institute Clinical Medicine , Clinical Genetics , Tartu Institute , Clinical Medicine , Professor Katrin , எமிலி ஹென்டர்சன் , துறை ஆஃப் மருத்துவ ஜெநெடிக்ஸ் , பரந்த நிறுவனம் , மருத்துவ ஜெநெடிக்ஸ் , மருத்துவ மருந்து , ப்ரொஃபெஸர் காற்றின் ,

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 ,

Study reveals why intellectual disability risk for younger sib­lings is low


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. ....

Eteläuomen Läi , United States , Emily Henderson , Department Of Medical Genetics , University Of Helsinki , Baylor College Of Medicine , Columbia University , Human Genetics , Medical Genetics , Baylor College , Exome Sequencing , ஒன்றுபட்டது மாநிலங்களில் , எமிலி ஹென்டர்சன் , துறை ஆஃப் மருத்துவ ஜெநெடிக்ஸ் , பல்கலைக்கழகம் ஆஃப் ஹெல்சின்கி , பேலர் கல்லூரி ஆஃப் மருந்து , கொலம்பியா பல்கலைக்கழகம் , மனிதன் ஜெநெடிக்ஸ் , மருத்துவ ஜெநெடிக்ஸ் , பேலர் கல்லூரி ,