Category: <span>Genetics</span>

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HPV Linked to Disturbing Changes in Human Sperm, Scientists Find
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HPV Linked to Disturbing Changes in Human Sperm, Scientists Find

07 September 2024ByCarly Cassella (Derek Berwin/Getty Images) The human papillomavirus (HPV) is responsible for the vast majority of cervical cancer cases, but this isn’t a sexually transmitted infection that just one half of the population needs to worry about. Researchers from Argentina have found strains of HPV which put people at high risk of cancer...

Keratin gene study pinpoints mutations associated with ‘spindle hair’
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Keratin gene study pinpoints mutations associated with ‘spindle hair’

September 4, 2024 by Inka Väth, University Hospital Bonn Monilethrix hair. Credit: Clump/Wikimedia Commons, CC0 Public DomainFrom infancy and usually for life, some families suffer from broken hair due to a congenital form of hair loss called monilethrix. Researchers at the University Hospital Bonn and the University of Bonn have now identified causative mutations in...

Q&A: Differences of sex development 101—it’s complicated
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Q&A: Differences of sex development 101—it’s complicated

August 15, 2024 by Rob Clancy, Hudson Institute of Medical Research Professor Vincent Harley. Credit: Hudson Institute of Medical ResearchBoy or girl? It’s not always as simple as that. Internationally renowned researcher into differences of sex development (DSDs), Professor Vincent Harley, introduces the topic and answers your questions—separating fact from fiction. Recent controversies in the...

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Discovery of key protein that helps cells maintain their identity

News Release 13-Aug-2024 Peer-Reviewed PublicationUniversity of Copenhagen – The Faculty of Health and Medical Sciences The study, published in the journal Cell, marks a step forward in the field of epigenetics and its impact on health and disease. Epigenetics, the study of how genes are turned on or off without changing the DNA itself, is...

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...