A genetic phenomenon that allows for the selection of multiple genetic mutations that all lead to a similar outcome—for instance the ability to digest milk—has been characterised for the first time in humans.
Aug 29, 2013
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Cleveland Clinic researchers have discovered a new gene associated with Cowden syndrome, an inherited condition that carries high risks of thyroid, breast, and other cancers, and a subset of non-inherited thyroid cancers, ...
Oct 29, 2015
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Analyzing the genetics and smoking habits of more than half a million people has shed new light on the complexities of controlling blood pressure, according to a study led by researchers at Washington University School of ...
Feb 15, 2018
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Argininosuccinate lyase deficiency (ASLD), also known as argininosuccinic aciduria, is a severe metabolic disease where the body does not process proteins normally, instead resulting in a very dangerous accumulation of argininosuccinic ...
Apr 4, 2024
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Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.
Feb 23, 2012
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In a new study published today in The American Journal of Human Genetics, a multinational team of researchers describes, for the first time, the biological basis of a severe neurological disorder in children.
Aug 3, 2017
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Researchers at the University of Sussex have discovered a new genetic defect which causes a form of intellectual disability; a finding that will improve screening programmes and help to end a 'diagnostic odyssey' for families ...
May 1, 2019
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Researchers at Mayo Clinic have combined results from a functional test measuring the effect of inherited variants in the BRCA2 breast and ovarian cancer gene with clinical information from women who received genetic testing ...
Feb 19, 2021
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(Medical Xpress) -- A team of Australian researchers has come a step closer to unlocking a mystery that causes epileptic seizures in babies.
Jan 16, 2012
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An international team of scientists and doctors has identified a family of five new genetic diseases which are likely to affect more than 1 in 5000 children.
Jan 8, 2018
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