NEW YORK (GenomeWeb) – Researchers at the University of Edinburgh have found that three published long-read human genome assemblies — two from Pacific Biosciences sequencing data alone and one from Oxford Nanopore and Illumina data — contain considerably more errors in protein-coding regions than short-read assemblies. As a result, they suggested, more efforts should go...
Category: <span>Genetics</span>
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Common gene disorder causes serious “stealth” disease, but could be easily treated
The Western world’s most common genetic disorder causes far higher levels of serious disease and disability than previously thought, despite being easy to detect and treat. Two major studies have revealed that the iron overload condition haemochromatosis, previously thought to be a low-level health risk, actually quadruples the risk of liver disease and doubles the risk of arthritis, and frailty in older age groups. It...
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Alzheimer’s: 9 new genetic risk factors found
New research, published in the journal Nature Genetics, identifies new genetic risk factors for Alzheimer’s disease. It also uncovers novel biological mechanisms that may lead to this neurodegenerative condition. About 5.7 million people in the United States are currently living with Alzheimer’s disease. A recent report issued by the Centers for Disease Control and Prevention (CDC) predicts that by the year 2060, this number...
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A new database pools what scientists know about the BRCA genes
A sweeping new resource gives researchers a chance to comb through data on thousands of variants in two genes — BRCA1 and BRCA2 — to understand how they shape cancer risk. The database, dubbed the BRCA Exchange, is the product of a five-year project funded by the National Cancer Institute. Some variants in the BRCA...
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Genomic analysis is important even for ultra-hypermutated tumors prior to immune therapy
New research from The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC-James) underscores the importance of genomic analysis of rare malignant tumors that are genetically unstable and have high numbers of gene mutations. Killer T cells surround a cancer cell. Credit: NIH OSUCCC-James investigators analyzed the cancer genomes of nine metastatic tumors and the...
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Researchers overcome hurdle in CRISPR gene editing for muscular dystrophy
The gene editing technique known as CRISPR is a revolutionary approach to treating inherited diseases. However, the tool has yet to be used to effectively treat long-term, chronic conditions. A research team led by Dongsheng Duan, Ph.D., at the University of Missouri School of Medicine has identified and overcome a barrier in CRISPR gene editing...
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Study identifies genetic mutation responsible for tuberculosis vulnerability
If you live in the United States, you are unlikely to come into contact with the microbe that causes tuberculosis. Your odds of encountering the microbe are so low, in fact, that risk factors for the disease can easily go unnoticed: If you happened to carry a gene that predisposed you to tuberculosis, you likely...
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The immune system’s fountain of youth
Helping the immune system clear away old cells in aging mice helped restore youthful characteristics WEIZMANN INSTITUTE OF SCIENCE If only we could keep our bodies young, healthy and energetic, even as we attain the wisdom of our years. New research at the Weizmann Institute of Science suggests this dream could be at least partly...
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CRISPR joins battle of the bulge, fights obesity without edits to genome
A weighty new study shows that CRISPR therapies can cut fat without cutting DNA. In a paper published Dec. 13, 2018, in the journal Science, UC San Francisco researchers describe how a modified version of CRISPR was used to ramp up the activity of certain genes and prevent severe obesity in mice with genetic mutations that...
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Scientists cut main heart disease risk locus out of DNA by genome editing
Microscopy image showing vascular smooth muscular cells made from blood-derived induced pluripotent stem cells. The Scripps Research team found that a deleting genetic risk factor for coronary artery disease rescued the health of these cells. Credit: Baldwin lab/Scripps Research Over the past decade we’ve learned that billions of people carry a mysterious specter in their...