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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Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial ...
Jul 22, 2016
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A team of scientists led by researchers from the University of California, San Diego School of Medicine and Ludwig Institute for Cancer Research have identified a novel therapeutic approach for the most frequent genetic cause ...
Nov 8, 2013
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More than 50 million people worldwide have epilepsy, with a third of these being children. The most common forms of epilepsy in children occur without any apparent trigger and only affect certain regions of the brain. This ...
Aug 12, 2013
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An international team of scientists led by King's College London has discovered 24 new genes that cause refractive errors and myopia (short-sightedness).
Feb 10, 2013
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While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...
Jan 23, 2013
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(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading to impaired development ...
Dec 12, 2012
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(Medical Xpress)—A multinational research project led by the Universities of Dundee and Glasgow has identified a genetic determinant of hypertension (or high blood pressure), which could inform treatment of the condition ...
Nov 22, 2012
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(Medical Xpress)—A diverse team of biologists has shown using induced pluripotent stem cells (iPSCs) that a gene mutation that causes malformations in the structure of the nuclear envelope of neural cells, is associated ...
