An international consortium of researchers has identified genetic variants in 10 genes that elevate a person's susceptibility to Crohn's disease, a form of inflammatory bowel disease.
Aug 29, 2022
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78
In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene—one from each parent—were ...
Aug 16, 2022
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52
Autism Spectrum Disorder (ASD) is referred to as a "spectrum" because clinical features of ASD range from mild social impairments in some people to severe intellectual disability or epilepsy in others. Genetic studies have ...
Jun 2, 2022
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71
The APOE4 gene is the most powerful genetic factor driving a person's risk for developing late-onset Alzheimer's disease.
Jun 1, 2022
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105
Although some rare genetic variants can increase the risk of disease markedly for a few individuals, the genetic contribution to common diseases is mostly due to a combination of many common genetic variants with small effects. ...
May 16, 2022
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35
Broad scientists analyzed sequencing data from more than 200,000 people and found rare genetic variants associated with diseases like diabetes and heart failure.
Feb 23, 2022
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34
A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours—a feat that's nearly unheard of in standard ...
Jan 12, 2022
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71
Researchers have identified a rare class of genetic differences transmitted from parents without autism to their affected children with autism and determined that they are most prominent in "multiplex" families with more ...
Jul 26, 2021
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176
Scientists at the University of Cambridge have identified rare genetic variants—carried by one in 3,000 people—that have a larger impact on the risk of developing type 2 diabetes than any previously identified genetic ...
Jul 7, 2021
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13
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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