Categoría: Genetics
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National genomic screening program could save thousands of Australians from preventable cancer and heart disease
Leading genomic health experts from Monash University are calling for urgent government funding to progress the development of a national preventive genomic testing program that would save thousands of Australians from conditions like cancer and heart …
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Alternative RNA splicing tied to schizophrenia-like behaviors in animal models
In a new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia.
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Super agers tend to have at least two key genetic advantages, study finds
The gene variant posing the greatest genetic risk of late-onset Alzheimer’s disease (AD) is called APOE-ε4. A different variant of the same gene, APOE-ε2, is thought to confer protection against AD.
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Fruit fly pigmentation guides discovery of genes that control brain dopamine and sleep
Dopamine in the brain influences movement, learning, motivation and sleep. In humans, problems with dopamine are linked to conditions like Parkinson’s disease, depression and sleep disorders. While scientists know a great deal about how dopamine works …
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Two wrongs make a right: How two damaging disease variants can restore health
Scientists at Pacific Northwest Research Institute (PNRI) have overturned a long-held belief in genetics: that inheriting two harmful variants of the same gene always worsens disease. Instead, the team found that in many cases, two harmful variants can…
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DNA testing of colorectal polyps improves insight into hereditary risks
For 10% of colorectal cancer patients, hereditary factors play a role, with higher percentages among younger patients. Research from Radboud University Medical Center and University Hospital Bonn (UKB) in collaboration with researchers from Munich and …
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International collaboration produces detailed models of the 3D genome over time in cells
In its effort to correlate genomic structure with gene function, the 4D Nucleome Consortium (4DN), led by Job Dekker, Ph.D., at UMass Chan Medical School, has extensively mapped and analyzed the three-dimensional folding of the human genome in human e…
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Most Alzheimer’s cases linked to variants in a single gene
Potentially more than 90% of Alzheimer’s disease cases would not occur without the contribution of a single gene (APOE), according to a new analysis led by UCL researchers.
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Genetic study uncovers unknown causes of blindness
Researchers from Radboud University Medical Center and University of Basel have discovered new genetic causes of inherited blindness. Their study, published in Nature Genetics, shows that changes in specific pieces of DNA, which play a role in processi…
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Shared genes may influence both artery calcification and bone density
A new study published suggests that the connection between coronary artery calcification—a measure of calcium buildup in the arteries—and bone mineral density may be driven in part by shared genetic factors, rather than one directly causing the other. …