A first-in-man clinical trial, testing a newly developed drug for a rare genetic condition called mucopolysaccharidosis type II (MPS II) or Hunter syndrome, is underway at Emory University.
Jun 3, 2015
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The results of an international study published in Nature Cell Biology have identified a gene (TMEM107) associated with Joubert syndrome, and crucially uncovered the mechanism by which it functions in cells, leading to a ...
Nov 25, 2015
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Investigators at the National Institutes of Health have identified a genetic mutation in three unrelated families that causes a rare immune disorder characterized by excessive and impaired immune function. Symptoms of this ...
Jan 11, 2012
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Britain's fertility regulator on Wednesday confirmed the births of the U.K.'s first babies created using an experimental technique combining DNA from three people, an effort to prevent the children from inheriting rare genetic ...
May 10, 2023
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Rady Children's Institute for Genomic Medicine (RCIGM) today announced the publication of a study in Nature Communications describing and examining the performance of Genome-to-Treatment (GTRx), an automated, virtual disease ...
Jul 26, 2022
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A rare genetic condition which causes inflammatory bowel disease can be successfully treated by bone marrow transplant, according to University of Manchester and Manchester University NHS Foundation Trust researchers.
Oct 13, 2020
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An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk ...
Mar 2, 2014
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Dietary fibre may be a new tool in the prevention of progressive lung disease, thanks to the production of anti-inflammatory short chain fatty acids (SCFA), according to a new study by Australia's Priority Research Centre ...
Apr 5, 2019
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Broad scientists analyzed sequencing data from more than 200,000 people and found rare genetic variants associated with diseases like diabetes and heart failure.
Feb 23, 2022
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Further work carried out on mice suggests that this gene plays a part in motor network cross-over. Cross-over is a key factor in the transmission of brain signals, because it allows the right side of the brain to control ...
Feb 17, 2012
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