Genetics
Mutant gene stops at-risk people from getting Alzheimer's: Could it lead to treatment?
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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Page 3 - News tagged with rare variants
Autism spectrum disorders
Debunking myths about autism
This past October was Canadian Autism Awareness Month. While studies show as many as one in every 165 Canadians has autism spectrum disorder (ASD), many people do not understand the disorder.
Nov 4, 2015
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Genetics
Using DNA sequencing data with electronic health records to find rare variants behind inherited diseases
A large team of researchers affiliated with a large number of institutions in the U.S. has used DNA sequencing data and information stored in electronic health record databases to search for rare genetic variants that may ...
Genetics
New genetic analysis method could advance personal genomics
Geneticists could identify the causes of disorders that currently go undiagnosed if standard practices for collecting individual genetic information were expanded to capture more variants that researchers can now decipher, ...
Sep 10, 2020
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Genetics
Scientists find genes with large effects on head and brain size
Children's heads expand steadily to accommodate their growing brains, and doctors routinely measure head circumference during the first years of life to assess healthy brain development. Children from around the world follow ...
Jan 21, 2019
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Genetics
Population-based study reveals strong genetic links with multiple cardiometabolic diseases and traits
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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Neuroscience
Rare forms of 'thunder' protein may be linked to schizophrenia
Researchers at Johns Hopkins Medicine report they have identified rare genetic variations in a protein called Thorase, which is responsible for breaking down receptors at the connections between neurons in the brain. By targeting ...
Jan 3, 2018
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Genetics
Fastest DNA sequencing technique helps undiagnosed patients find answers in mere hours
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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Genetics
New genetic markers for a rarer form of type 1 diabetes
While most cases of type 1 diabetes are classified as autoimmune diseases, a minor proportion of these patients have non-immune-mediated type 1 diabetes, sometimes referred to as type 1 B diabetes. Researchers from Children's ...
Aug 27, 2021
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Genetics
Study zeroes in on genes involved in Crohn's disease
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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