Repairing a single mutation in the Tmc1 gene restored partial hearing in mice Key Findings: This is the first example of repairing a recessive gene mutation Repairing a single mutation in the Tmc1 gene restored partial hearing in mice The technique required the use of two viral vectors to deliver the base editing machinery Cells...
Reviewed by James Ives, M.Psych. (Editor) A team led by Case Western Reserve University School of Medicine researchers has made two major discoveries involving psoriasis, a chronic and debilitating skin disease with no known cure. The researchers found that an overabundance of a protein known as KLK6 can produce and worsen the skin inflammation characteristic...
Study suggests the benefits of a more personalized therapy typically outweigh the risks of delaying treatment to await test results AMERICAN SOCIETY OF HEMATOLOGY PRINT E-MAIL New tailored therapies offer exciting prospects for treating acute myeloid leukemia (AML), but taking advantage of them may require waiting a week or more for genetic testing before starting...
Clarifying the mechanisms for meiotic recombination in sperm production KUMAMOTO UNIVERSITY A research group from the Institute of Molecular Embryology and Genetics (IMEG)at Kumamoto University, Japan has discovered that the gene C19ORF57 plays a critical role in meiosis. The gene appears to be related to the cause of male infertility and could be a big...
by Buck Institute for Research on Aging Each of the analyzed fly strains arranged by response to dietary restriction. The overlapping bars show the increase or decrease in lifespan (grey bars) or healthspan (purple bars) when that fly strain underwent dietary restriction. Most strains show positive responses, but a number of strains show negative responses...
by University of Copenhagen Researchers at the University of Copenhagen’s Department of Nutrition, Exercise and Sports have demonstrated that physical activity prompts a clean-up of muscles as the protein ubiquitin tags onto worn-out proteins, causing them to be degraded. This prevents the accumulation of damaged proteins and helps keep muscles healthy. Physical activity benefits health...
by Kate Wighton, Imperial College London Scientists have created the world’s largest publicly available database of genetic variants—changes in DNA that can sometimes lead to disease. The use of this resource, called the Genome Aggregation Database (gnomAD) and including information from over 140,000 people from across the globe, is described in a landmark collection of...
by Massachusetts General Hospital A potential blood-based biomarker for Alzheimer’s and other neurodegenerative diseases seems even more promising thanks to new research from a Massachusetts General Hospital-led study. According to this team’s work, neurofilament light chain (NfL) has great potential as a biomarker for early detection of Alzheimer’s disease and could be also useful for...
by Cleveland Clinic An international team of researchers co-led by Cleveland Clinic have identified why patients without PTEN mutations may still experience the high cancer risk associated with PTEN hamartoma tumor syndrome (PHTS). In a new study published in the New England Journal of Medicine, a research team co-led by Charis Eng, MD, Ph.D., Cleveland...
by Massachusetts General Hospital Researchers at Massachusetts General Hospital have uncovered an unexpected connection between an imbalance of electrons in liver cells and many metabolic problems that increase the risk for conditions such as cardiovascular disease and fatty liver disease. Their findings, published in the journal Nature, shine a light on the phenomenon known as...
