A master genetic regulator cardiomyocytes that need to mature may be a clue toward getting heart muscle to regenerate BOSTON CHILDREN’S HOSPITAL Scientists around the world have been trying to replace damaged heart tissue using lab-made heart-muscle cells (cardiomyocytes), either injecting them into the heart or applying patches laced with the cells. But results to date have been underwhelming. IMAGE: A MUTANT HEART MUSCLE CELL (IN GREEN) SURROUNDED...
Category: <span>Genetics</span>
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Clinical gene discovery program solves 30 medical mysteries
Brigham Genomic Medicine brings together scientists and clinicians to diagnose, discover genetic underpinnings of disease and shape treatment BRIGHAM AND WOMEN’S HOSPITAL Boston, MA (September 17, 2018) A table in a recently published paper tells the story of 30 families who have, sometimes after years of searching, finally received an answer about the condition that...
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Study of one million people leads to world’s biggest advance in blood pressure genetics
Over 500 new gene regions that influence people’s blood pressure have been discovered in the largest global genetic study of blood pressure to date, led by Queen Mary University of London and Imperial College London. Involving more than one million participants, the results more than triple the number of blood pressure gene regions to over...
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Researchers find answers as to why some people are at risk of gout
University of Otago researchers has helped characterize a genetic variant that enables new understanding of why some people are at risk of gout, a painful and debilitating arthritic disease. Image: Gout in X-ray of left foot. Credit: Hellerhoff/Wikipedia. Gout is caused by persistently elevated levels of urate in the blood, which causes severe joint pain and swelling,...
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Study cracks open the secrets of the cancer-causing BRCA1 gene
Lawsuits didn’t do it, public shaming didn’t do it, patients and doctors banding together to “free the data” couldn’t do it: For 22 years Myriad Genetics, one of the oldest genetic testing companies, has refused to make public its proprietary database of BRCA1 variants, which lists more than 17,000 known misspellings in that major “cancer risk” gene, along...
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One in five human genes are not ‘real’
New research could change the face of biomedicine; the human genome is found to contain far fewer “real,” or protein-encoding, genes than it was previously believed. Our DNA may contain far fewer ‘real’ genes than we initially thought. In the early 1990s, scientists set out to map the entire DNA sequence of the human genome. The so-called Human...
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Breakthrough in muscular dystrophy research after scientists edit DNA to rebuild muscles Breakthrough in muscular dystrophy research after scientists edit DNA to
Duchenne muscular dystrophy affects as many as one in every 3,500 boys It kills patients by their mid-30s by weakening the heart and breathing muscles Scientists have managed to edit DNA to strengthen weakened muscles Levels of a vital muscle protein rose to up to 92 percent of normal amounts Scientists have made a breakthrough...
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Genome-wide study identifies genes linked to diverticular disease
More than half of adults in the Western hemisphere over the age of 40 have small bulging pouches inside their intestine known as diverticula. Caused by a weakening of the outer lining of the intestine, these pouches are typically harmless. Credit: CC0 Public Domain But for some, these pouches can become painfully inflamed or infected,...
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New mechanism activates bone-building cells in Osteoperosis
The number of osteoporosis medications that promote bone formation is few compared to those that suppress bone resorption. A research group led by Kumamoto University scientists has discovered that the gene SIRT7 is important for bone formation, and has discovered a new mechanism to activate gene functions essential for bone formation. The researchers believe that the SIRT7-regulated osteoblastogenesis...
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First test of in-body gene editing shows promise
Preliminary results suggest that treatment for rare disease is safe, but its effectiveness is unclear. A therapy that edits genes directly in the human body might be safe, suggest early findings from the first trial to test the approach. Researchers from Sangamo Therapeutics in Richmond, California, designed enzymes to correct an error in the genome...