Researchers have identified 57 genetic variations of a gene strongly associated with declines in blood oxygen levels during sleep. Low oxygen levels during sleep are a clinical indicator of the severity of sleep apnea, a ...
Oct 24, 2019
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Researchers from The Hospital for Sick Children (SickKids) have uncovered new genes and genetic changes associated with autism spectrum disorder (ASD) in the largest autism whole genome sequencing analysis to date, providing ...
Nov 10, 2022
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Over the last 15 years, researchers at the Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard have been working to decode the biological causes of schizophrenia, which affects 20 million people ...
Apr 7, 2022
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Patients diagnosed with heart failure, stroke, infertility and kidney failure could actually be suffering from rare and undiagnosed genetic diseases.
Mar 15, 2018
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An international consortium of scientists has analyzed protein-coding genes from nearly 46,000 people, linking rare DNA alterations to type 2 diabetes. The study, one of the largest known of its type, includes data from people ...
May 22, 2019
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A technology that is widely used by commercial genetic testing companies is "extremely unreliable" in detecting very rare variants, meaning results suggesting individuals carry rare disease-causing genetic variants are usually ...
Feb 15, 2021
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Despite their bad reputations, the vast majority of mutations are not harmful. Even in very rare genetic disorders, only one or two genetic variations—out of tens of thousands—is actually the cause of disease. Distinguishing ...
Dec 28, 2015
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A genetic variant that protects the heart against cardiovascular disease has been discovered by researchers at the Wellcome Trust Sanger Institute and their collaborators. Reported today in Nature Communications, the cardioprotective ...
May 26, 2017
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A major international study from the Autism Sequencing Consortium with participation of researchers from the Danish iPSYCH psychiatry project, has recently mapped 102 new autism genes. The new findings provide a new understanding ...
Feb 4, 2020
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A large new analysis of DNA from thousands of patients has uncovered several underlying gene networks with potentially important roles in autism. These networks may offer attractive targets for developing new autism drugs ...
Jun 6, 2014
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