A mutated gene in patients lacking a nose has been identified by an international team, a first step toward understanding nose development and possible therapies for another condition.
Sep 15, 2017
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For the first time, researchers at the Wellcome Trust Sanger Institute and University of Leeds have proved that gene variants associated with red hair, pale skin and freckles are linked to a higher number of genetic mutations ...
Jul 12, 2016
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Most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches, researchers funded by the National Institutes of Health have found. ...
Jul 20, 2014
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UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence whether someone develops autism ...
Jul 31, 2023
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Spontaneous mutations in the brain gene TBR1 disrupt the function of the encoded protein in children with severe autism. In addition, there is a direct link between TBR1 and FOXP2, a well-known language-related protein. These ...
Sep 18, 2014
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Dravet syndrome is a rare and severe form of epilepsy caused primarily by inherited loss-of-function mutations in a gene called SCN1A. This gene encodes a sodium ion channel known as Nav1.1 and is required for the proper ...
Sep 20, 2013
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Oxford scientists have for the first time been able to identify the origins of some severe disease-causing mutations within the testicles of healthy men. This discovery will help our understanding of how certain serious genetic ...
Feb 8, 2016
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Approximately 30 per cent of patients with epilepsy do not respond to anti-epileptic drugs. In these cases, all neurologists can do is attempt to find the right combination of medication through trial and error. A treatment ...
Nov 6, 2017
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Researchers have reverse-engineered the outlines of a disrupted prenatal gene network in schizophrenia, by tracing spontaneous mutations to where and when they likely cause damage in the brain. Some people with the brain ...
Aug 1, 2013
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Pharmaceuticals that inhibit a specific enzyme may be useful in treating progeria, or accelerated aging in children. A new study performed at the Sahlgrenska Academy indicates that the development of progeria in mice was ...
May 16, 2013
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