A rare genetic disease which causes some parts of the body to grow excessively has been linked to a cancer-associated mutation that drives cell growth, potentially paving the way for new treatments. The research findings ...
Jun 25, 2012
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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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Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published ...
May 31, 2024
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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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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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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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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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Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
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