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 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.
Autism spectrum disorders
Autism genes are in all of us, new research reveals
New light has been shed on the genetic relationship between autistic spectrum disorders (ASD) and ASD-related traits in the wider population, by a team of international researchers including academics from the University ...
Mar 21, 2016
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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
Extremely rare gene variants point to a potential cause of age-related macular degeneration
A study from the National Eye Institute (NEI) identified rare genetic variants that could point to one of the general mechanisms driving age-related macular degeneration (AMD), a common cause of vision loss in older adults.
Apr 1, 2023
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Genetics
Broad spectrum of autism depends on spectrum of genetic factors
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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Genetics
Researchers identify genetic variations linked to oxygen drops during sleep
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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