October 2, 2024 by University of Montreal A team of Canadian and American scientists has made a promising breakthrough in understanding the origins of a mysterious neurological disorder known as mirror movements. The discovery was made by Kaiyue Zhang, a doctoral student at the Montreal Clinical Research Institute (IRCM), affiliated with Université de Montréal, and...
Tag: <span>Genetic variant</span>
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Study finds genetic variant among people who experience a rare recovery from ALS
Credit: CC0 Public DomainThough it is exceedingly rare, some people diagnosed with amyotrophic lateral sclerosis (ALS) partially or fully recover from the lethal neurodegenerative disease. A better understanding of this baffling phenomenon, reported in medical literature for at least 60 years, could point to potential new treatment approaches. To that end, researchers at Duke Health...
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Study finds how a genetic variant raises diabetes risk through an unexpected mechanism
by Andrea Tamayo, Broad Institute of MIT and Harvard Healthy fat cells, or adipocytes, with numerous fat deposits (green). Credit: Phil Kubitz, Claussnitzer lab Researchers have uncovered the mechanism through which a single DNA base change dramatically raises the risk of a subform of type 2 diabetes (T2D) called metabolically obese normal weight (MONW). This genetic variant,...
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Researchers discover genetic variant associated with earlier onset childhood epilepsy
by Children’s Hospital of Philadelphia Credit: Unsplash/CC0 Public Domain Researchers at Children’s Hospital of Philadelphia (CHOP) have discovered a specific genetic variant in SCN1A, the most common genetic epilepsy, that leads to an earlier onset of epilepsy, with clinical features distinct from other epilepsies. The researchers also identified a potentially effective treatment strategy. The findings...
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Genetic variant found that predisposes people to slimness, carried by 60% of Europeans
CENTRO NACIONAL DE INVESTIGACIONES ONCOLÓGICAS (CNIO) IMAGE: NEREA DELEYTO-SELDAS AND ALEJO EFEYAN, IN THE CNIO GARDENS. CREDIT: LAURA LOMBARDIA/ CNIO Researchers from the Spanish National Cancer Research Centre (CNIO) and the IMDEA Food Institute have discovered that those who have a certain version of a gene involved in cell nutrition tend to accumulate less fat....
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Genetic variant may increase risk for CTE severity among older individuals with repetitive head impacts
by Boston University School of Medicine Credit: Pixabay/CC0 Public Domain How could two individuals who both played football for 10 years and developed CTE have different disease severity? How could some individuals develop dementia in their 50’s while other never develop dementia at all? Perhaps the answer lies in their genes. Repetitive head impact (RHI)...
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Genetic variant linked to prognosis of chronic hypersensitivity pneumonitis
TOKYO MEDICAL AND DENTAL UNIVERSITY VIDEO: GENETIC VARIANT LINKED TO PROGNOSIS OF CHRONIC HYPERSENSITIVITY PNEUMONITIS CREDIT: PROFESSOR YASUNARI MIYAZAKI, TMDU Researchers from Tokyo Medical and Dental University (TMDU) find a genetic variant associated with a worse prognosis of the long-term lung condition in chronic hypersensitivity pneumonitis Tokyo, Japan – Chronic hypersensitivity pneumonitis (CHP) is a...
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Genetic variant linked to hearing loss in children treated with common chemotherapy drug
A University of Alberta research lab has helped identify a genetic variant that increases the risk of hearing loss in children with cancer who are treated with the widely used drug cisplatin. Amit Bhavsar, assistant professor in the Department of Medical Microbiology & Immunology and Canada Research Chair in Functional Genomic Medicine, led the U of A...