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Browsing Tag

Mutation

62 posts
SScience
Rare ABCA7 gene variants linked to Alzheimer’s risk
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Multiple protein forms from a single gene offer fresh insight into rare disease mechanisms

  • November 8, 2025
Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of…
SScience
precision DNA repair may hold clues for human aging
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precision DNA repair may hold clues for human aging

  • October 31, 2025
The bowhead whale’s remarkable lifespan and low cancer risk stem from a finely tuned DNA repair system driven…
GGenetics
New technology embeds unique genetic identifiers in engineered cells
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New gene-editing method can correct many disease-causing mutations in mammalian cells

  • October 23, 2025
Some genetic disorders-such as cystic fibrosis, hemophilia and Tay Sachs disease-involve many mutations in a person’s genome, often…
GGenetics
Photo of an orange cat
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Orange Cats Are Genetically Unlike Any Other Mammal and Now We Know Why

  • October 19, 2025
Credit: Pixabay. Chris Kaelin, a geneticist at Stanford Medicine, found himself thinking about cats. Not just any cats,…
HHealth
Mapping the evolutionary trajectory of meningiomas at single-cell resolution
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Study reveals how a microglial mutation increases risk for Alzheimer’s disease

  • October 18, 2025
Dominika Pilat, PhD, and Ana Griciuc, PhD, of the Department of Neurology at Massachusetts General Hospital are the lead…
HHealth
New recommendations aim to identify children with familial hypercholesterolemia
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Longevity gene offers hope for children with progeria

  • October 16, 2025
A new breakthrough in a rare genetic disease which causes children to age rapidly has been discovered using…
GGenetics
Personalized form of electric brain stimulation shows promise for treating depression
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Pioneering personalized medicine by deciphering depression’s complex biological web

  • October 15, 2025
In a compelling Genomic Press Interview published today in Genomic Psychiatry, Dr. Najaf Amin unveils transformative insights that…
HHealth
Discovery of CPD gene mutations sheds light on rare congenital hearing loss
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Discovery of CPD gene mutations sheds light on rare congenital hearing loss

  • October 15, 2025
Mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing…
GGenetics
Hotspots of human mutation point to clonal expansions in spermatogonia
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Hotspots of human mutation point to clonal expansions in spermatogonia

  • October 10, 2025
Lawson, A. R. J. et al. Somatic mutation and selection at population scale. Nature https://doi.org/10.1038/s41586-025-09584-w (2025). Maeda, H.…
GGenetics
Somatic mutation and selection at population scale
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Somatic mutation and selection at population scale

  • October 8, 2025
Cohort selection The TwinsUK study contains around 16,000 participants. From a preselection of 4,800 donors, we invited 1,796…
HHealth
Blood Cancer Illustration
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“Junk DNA” Provides Surprising New Treatments for Hard-To-Treat Blood Cancers

  • September 26, 2025
Researchers at King’s College London have uncovered a surprising vulnerability in certain blood cancers by targeting a part…
GGenetics
mosquito
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Malaria-Transmitting Mosquito’s Genetic Diversity and Evolution Revealed

  • September 19, 2025
There are a variety of methods that have been established to curtail the spread of infectious disease, from…
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