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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In late December, nearly two years after the epidemic began, the World Health Organization has declared the African country of Guinea to be free of Ebola virus infections. But, the race to find a cure and therapies to combat ...
Jan 5, 2016
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Pre-implantation genetic diagnosis (PGD) is used in fertility clinics to detect large chromosomal abnormalities or genetic mutations passed on by parents to their in vitro fertilized (IVF) embryos. However, it is not possible ...
Feb 11, 2015
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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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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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(Medical Xpress)—Exploiting individual genomes for personalized medicine may be more complicated than medical scientists have suspected, researchers at Virginia Bioinformatics Institute have discovered.
Jun 24, 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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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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HGPS is a rare genetic disease that affects one in every 4-8 million births. The disease is caused by a spontaneous mutation in one of the two copies (alleles) of the gene LMNA, which codes for lamin A, a protein important ...
Jun 17, 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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