An international team of scientists led by researchers from the University of Colorado School of Medicine have identified previously unknown genetic causes of mitochondrial diseases.
Oct 3, 2018
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Research discoveries revealing the genetic causes of neurological degeneration could be a key to slowing the progression of devastating diseases.
Aug 13, 2018
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Early childhood seizures result from a rare disease that begin in the first months of life. Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose ...
Aug 13, 2018
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New research offers clues as to why some diseases are highly variable between individuals. The phenomenon is apparent in people with retinitis pigmentosa, a condition that causes the light-sensing cells in the eye to degenerate. ...
Aug 7, 2018
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The genetic causes of a group of related infant cancers have been discovered by scientists at the Wellcome Sanger Institute, the University of Wuerzburg and their collaborators. Whole genome sequencing of tumours revealed ...
Jun 18, 2018
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In recent years, researchers have firmly established that gene mutations appearing for the first time, called de novo mutations, contribute to approximately one-third of cases of autism spectrum disorder (ASD). In a new study, ...
Apr 19, 2018
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In the world's largest study into the genetic causes of endometriosis, University of Queensland researchers have helped identify five new gene regions linked to the disease.
May 25, 2017
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In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a day's work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in ...
Apr 17, 2017
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A study led by researchers at Universitat Jaume I de Castellón has identified one of the genetic causes underlying the higher rate of melanoma in men. The results have been published in Biology of Sex Differences.
Jul 25, 2016
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Using a novel method, Whitehead Institute researchers have determined how a non-coding mutation identified in genome-wide association studies (GWAS) can contribute to sporadic Parkinson's disease (PD). The approach could ...
Apr 20, 2016
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