Scientists have discovered the cause of a rare condition within a part of the genome that has been largely unexplored in medical genetics. A team at the University of Exeter has found genetic changes in a region that controls ...
Nov 7, 2022
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Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.
Nov 7, 2022
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For more than a decade, the Care4Rare Canada Consortium (Care4Rare) has provided answers for families living with undiagnosed rare disease. Care4Rare is an international trailblazer in rare disease, using cutting-edge technologies ...
Nov 3, 2022
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Improving knowledge of Schaaf-Yang syndrome (SYS), an ultra-rare disease caused by mutations in the MAGEL2 gene, is the aim of the first clinical guideline aimed at health care professionals and families of children affected ...
Oct 26, 2022
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Bluebird Bio Inc.'s gene therapy for a brain-wasting disease received accelerated approval from U.S. regulators, making it the first treatment of its kind for children living with cerebral adrenoleukodystrophy.
Sep 19, 2022
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The U.S. Food and Drug Administration has approved Xenpozyme (olipudase alfa) for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD), a rare genetic disease.
Sep 5, 2022
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An unexplained case of severe coronary artery disease in a seemingly healthy young man led scientists at The Ohio State University Wexner Medical Center and College of Medicine to a discovery that could lead to a new way ...
Aug 31, 2022
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An international consortium of researchers has identified genetic variants in 10 genes that elevate a person's susceptibility to Crohn's disease, a form of inflammatory bowel disease.
Aug 29, 2022
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In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene—one from each parent—were ...
Aug 16, 2022
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Scientists have identified over 10,000 rare diseases with the majority of these diseases being genetic in origin. The vast majority of patients with these diseases experience long and grueling diagnostic odysseys and their ...
Aug 3, 2022
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