IMAGE: THIS IMAGE SHOWS THE DISTRIBUTION OF THE ANCESTRY OF INDIVIDUALS IN THE GWAS CATALOG AS OF JANUARY 2019. view more CREDIT: SIRUGO ET AL./CELL Despite efforts to include more diversity in research, people of European ancestry continue to be vastly overrepresented and ethnically diverse populations largely excluded from human genomics research, according to the authors of a commentary published...
Category: <span>Genetics</span>
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New diagnostic clues found for life limiting lung condition
A new biomarker that could be used to provide earlier diagnosis for a life limiting lung condition has been identified by researchers at the University of Bradford. Pulmonary arterial hypertension (PAH) affects around 6,500 people in the UK and is caused by a narrowing of the arteries supplying blood to the lungs. This leads to high blood pressure and, eventually, to heart...
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A genetic component in some women breaks down contraceptive hormones
by David Kelly, CU Anschutz Medical Campus Women who get pregnant while using birth control may carry a gene that breaks down the hormones common in contraceptives, according to researchers at the University of Colorado Anschutz Medical Campus. “The findings mark the first time a genetic variant has been associated with birth control,” said the study’s lead author Aaron Lazorwitz, MD, assistant professor of Obstetrics...
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Flaws in the original human genome reference
Buffalo gave us spicy wings and the ‘book of life.’ Here’s why that’s undermining personalized medicine The geneticists had high hopes of identifying the mutation that had caused the little boy’s abnormalities: a flattened face, cognitive delays, cleft palate, stubby thumbs, and a host of other skeletal malformations. They were pretty sure he had a...
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Gene behind long-recognized mitochondrial disease has highly varied effects
CHOP researchers find more than 30 variations in the MT-ATP6 gene with broadly variable clinical symptoms and biochemical features CHILDREN’S HOSPITAL OF PHILADELPHIA Philadelphia, March 12, 2019–For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However,...
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Mutations in noncoding genes could play big role in regulating cancer, study finds
by Liz Ahlberg Touchstone, University of Illinois at Urbana-Champaign RNA transcribed from genes that seem not to code for anything may play an important role in regulating cancer, a new study suggests. A number of these noncoding RNA fragments lie next to known cancer genes, the study found. Understanding how they interact with those cancer genes could open new avenues to understanding cancer’s behavior and treating it. Led by Kannanganattu Prasanth, a University of Illinois cell and...
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Study highlights danger of vitamin B12 deficiency
Rice University researchers found vitamin B12 promotes survival during infection by improving mitochondrial health. The expression of a fluorescent protein (top left) reflects buildup of a toxic metabolic product, propionate, in mitochondria on diets low in B12, as compared (bottom left) to those receiving sufficient B12. Mitochondrially targeted fluorescent protein (center) reveals fragmentation of mitochondria when B12 is low, and dead worms...
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Genomics Could Guide Pancreatic Cancer Treatment
Pancreatic cancer is a grim diagnosis, with a five-year survival rate of less than 9 percent. To improve those odds, researchersat UPMC and the University of Pittsburgh School of Medicine sought genetic signatures in the largest study of its kind that could be used to better match drugs to patients and for early detection. https: The Pancreas. Image credit: Blausen.com staff...
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DNA Gets a New — and Bigger — Genetic Alphabet
DNA is spelled out with four letters, or bases. Researchers have now built a system with eight. It may hold clues to the potential for life elsewhere in the universe and could also expand our capacity to store digital data on Earth In 1985, the chemist Steven A. Benner sat down with some colleagues and...
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Data sharing uncovers five new risk genes for Alzheimer’s disease
Analysis of genetic data from more than 94,000 individuals has revealed five new risk genes for Alzheimer’s disease, and confirmed 20 known others. An international team of researchers also reports for the first time that mutations in genes specific to tau, a hallmark protein of Alzheimer’s disease, may play an earlier role in the development...