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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 ,

Examination of an Estonian patient helped discover a new form of muscular dystrophy


Credit: University of Tartu
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. In collaboration with the Broad Institute of MIT and Harvard, these patients have undergone extensive genome-wide sequencing analyses at the level of the exome (the sequence of all genes), genome (whole DNA sequence), and transcriptome (RNA transcribed from the genome). ....

United States , United Kingdom , Broad Institute , Clinical Genetics , Tartu Institute , Clinical Medicine , Professor Katrin , American Journal , Human Genetics , Medicine Health , ஒன்றுபட்டது மாநிலங்களில் , ஒன்றுபட்டது கிஂக்டம் , பரந்த நிறுவனம் , மருத்துவ ஜெநெடிக்ஸ் , மருத்துவ மருந்து , ப்ரொஃபெஸர் காற்றின் , அமெரிக்கன் இதழ் , மனிதன் ஜெநெடிக்ஸ் , மருந்து ஆரோக்கியம் ,

Tulekul on veebikonverents harvaesinevatest haigustest

Tulekul on veebikonverents harvaesinevatest haigustest
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University Samal Clinics , University Of Tartu , Estonian Meditsiinigeneetika Order , Professor Katrin , Person The , ப்ரொஃபெஸர் காற்றின் , நபர் தி ,