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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...

Study links sequence variants to DNA methylation and diseases
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Study links sequence variants to DNA methylation and diseases

JULY 24, 2024 by deCODE genetics Credit: Pixabay/CC0 Public DomainA new study by scientists at deCODE Genetics shows that sequence variants drive the correlation between DNA methylation and gene expression. The same variants are linked to various diseases and other human traits. The research is published in the journal Nature Genetics under the title “The...

Sequencing technique searches for complex genomic variants to provide accurate diagnosis within hours
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Sequencing technique searches for complex genomic variants to provide accurate diagnosis within hours

JULY 23, 2024 by King Abdullah University of Science and Technology The KAUST-developed technology uses simple molecular biology strategies to seek out the genomic regions that are suspected of harboring complex mutations, deletions or rearrangements. Credit: 2024 KAUST.Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian...

Gene therapy discovery triggers hope for glaucoma patients
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Gene therapy discovery triggers hope for glaucoma patients

JULY 23, 2024 by Georgia Gowing, Macquarie University Modulation of tau expression in C57BL/6 mice retinas. Credit: Acta Neuropathologica Communications (2024). DOI: 10.1186/s40478-024-01804-0The protein tau is essential to the function of cells in the brain and central nervous system, but when over-produced under certain conditions, it forms tangles that clog the cells’ internal structures. These...

Beyond CRISPR: seekRNA delivers a new pathway for accurate gene editing
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Beyond CRISPR: seekRNA delivers a new pathway for accurate gene editing

SCIENCE & TECHNOLOGY NEWS Patented method developed in the laboratory of Dr Sandro Ataide promises to accelerate the potential of genetic engineering already shown by CRISPR gene-editing technology. DNA – illustrative photo. Image credit: Pixabay (Free Pixabay license) SeekRNA a ‘real game-changer’Scientists at the University of Sydney have developed a gene-editing tool with greater accuracy...

Understanding molecular drivers of lymphedema
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Understanding molecular drivers of lymphedema

JULY 19, 2024 by Olivia Dimmer, Northwestern University Credit: Journal of Clinical Investigation (2024). DOI: 10.1172/JCI176577 Northwestern Medicine scientists have uncovered molecular mechanisms underlying lymphatic valve development, a discovery which could prove useful in treating lymphedema, according to a study published in the Journal of Clinical Investigation. Lymphedema, a chronic condition that causes localized swelling,...

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Discovery of gene linked to neurodevelopmental disorders offers hope for future treatments

by University of Manchester Credit: University of Manchester A global collaboration involving University of Manchester scientists has discovered a gene whose variants potentially cause neurodevelopmental disorders (NDDs) in hundreds of thousands of people across the world. The findings of the University of Oxford led study, published in Nature, are an exciting first step towards the...