Category: <span>Genetics</span>

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Genetics of COPD important for lung function in young people, study finds
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Genetics of COPD important for lung function in young people, study finds

August 13, 2024 by Karolinska Institutet Box plot of variance in FEV1/FVC explained by the PRS for airflow limitation across the lifespan. Credit: eClinicalMedicine (2024). DOI: 10.1016/j.eclinm.2024.102731Certain genetic variants that have previously been linked to the lung disease COPD can explain reduced lung function already in children and adolescents, according to researchers at Karolinska Institutet....

Epigenetic change to DNA associated with cancer risk in ‘multi-omics’ study
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Epigenetic change to DNA associated with cancer risk in ‘multi-omics’ study

August 9, 2024 by Leigh MacMillan, Vanderbilt University DNA, which has a double-helix structure, can have many genetic mutations and variations. Credit: NIHA research team co-led by investigators at Vanderbilt University Medical Center and the University of Virginia has identified associations between DNA methylation and cancer risk. DNA methylation is an epigenetic change—the addition of...

MAPLEX exosome-based delivery system carries therapeutic proteins into cells
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MAPLEX exosome-based delivery system carries therapeutic proteins into cells

August 8, 2024 by Bob Yirka , Medical Xpress Photograph of a micro 405-nm LED exposure system utilized to facilitate the release of cargo proteins from the exosomal membrane. Credit: Jeein LimA multi-institutional team of biochemical engineers has developed an exosome-based delivery system that can carry beneficial proteins into cells to allow new kinds of...

Skin may hold key to neurodevelopmental disorder diagnoses
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Skin may hold key to neurodevelopmental disorder diagnoses

July 31, 2024 by Rhiannon Koch, University of Adelaide Credit: The American Journal of Human Genetics (2024). DOI: 10.1016/j.ajhg.2024.06.018A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers at the University of Adelaide. Currently, conditions caused by a significant...

Study finds genetic variant among people who experience a rare recovery from ALS
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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...

Chronic cough may be hereditary, according to two new studies
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Chronic cough may be hereditary, according to two new studies

July 30, 2024 by Uppsala University Credit: Pixabay/CC0 Public DomainChronic cough is among the most common reasons for seeking medical care, with middle-aged women the group most affected. New studies at Uppsala University also show that this condition appears to be a hereditary phenomenon. The studies have been published in ERJ Open Research and PLOS...

Research shows genetic variants are more common in people with Parkinson’s disease than previously thought
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Research shows genetic variants are more common in people with Parkinson’s disease than previously thought

July 29, 2024 by Parkinson’s Foundation Credit: Unsplash/CC0 Public DomainInvestigators in the Parkinson’s Foundation-backed PD GENEration study—which reached its goal of 15,000 participants ahead of schedule this spring—found that 13% of participants have a genetic form of Parkinson’s disease (PD), which is a significant observation compared to long-standing estimates. Results from the first 3.5 years...

Maternal and paternal X-chromosomes show skewed distribution in different organs and tissues
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Maternal and paternal X-chromosomes show skewed distribution in different organs and tissues

July 26, 2024 by Medical Research Council (MRC) Laboratory of Medical Sciences X-linked human genetic variation associated with skewed X chromosome usage in blood-derived polyclonal B lymphoblastoid cells. Credit: Nature Genetics (2024). DOI: 10.1038/s41588-024-01840-5A study published in Nature Genetics by the Lymphoid Development Group at the MRC Laboratory of Medical Sciences reveals that the contribution...

Fruit fly study identifies gene that may reverse Parkinson’s disease
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Fruit fly study identifies gene that may reverse Parkinson’s disease

JULY 24, 2024 by Simon Fraser University Cdk8 regulates mitochondrial morphology under physiological conditions. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-47623-8Researchers at Simon Fraser University, in collaboration with a group from Baylor College of Medicine in Texas, have identified a gene that appears to reverse Parkinson’s disease symptoms in fruit flies. SFU’s Verheyen lab discovered that...

New gene therapy approach shows promise for Duchenne muscular dystrophy
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New gene therapy approach shows promise for Duchenne muscular dystrophy

JULY 25, 2024 by Jackie Maupin, Indiana University School of Medicine Design and test of split intein constructs to assemble FL-dystrophin. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-50569-6Indiana University School of Medicine researchers have made a significant breakthrough in developing a new gene therapy approach that restores full-length dystrophin protein, which could lead to new treatments...