Genetics
Groundbreaking genetic discovery shows why Lupus develops
In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus.
May 17, 2019
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News tagged with rare gene variants
Neuroscience
Biotin, mitochondria, and dementia: Research reveals a connection
By any measure, carbon-based life originates from carboxylation. That is to say, the coupling of atmospheric carbon dioxide to sugar. Carboxylation is also critical for mitochondria to function. There are five carboxylation ...
Alzheimer's disease & dementia
Researchers discover two, rare genes associated with Alzheimer's disease
Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
Mar 29, 2019
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Other
20 gene variants and transgender identity—what does it mean?
The week started strangely.
Mar 23, 2018
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Genetics
Autism-related genes in non-autistic individuals show a long-term socioeconomic influence
Autism research led by the Institut Pasteur, France, has found socioeconomic and cognitive correlations between rare loss-of-function variants in autism-associated genes and people without autism.
Genetics
What percentage of ALS is genetic?
Up to 90 percent of people with amyotrophic lateral sclerosis (ALS) report that they have no family history of the disease. Now, new research has found approximately 17 percent of such ALS cases may be caused by a gene mutation, ...
Jun 21, 2017
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Genetics
A path to promising treatments for schizophrenia through gene variants
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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Genetics
Researchers develop gene-filtering tool to identify disease-causing mutations
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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Genetics
Three gene networks discovered in autism, may present treatment targets
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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Genetics
More pieces of the autism puzzle uncovered
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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