Category: <span>Genetics</span>

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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...

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Researchers pave way to target an autoimmune disease-associated gene variant

by Serena Crawford, Yale University Superimposed structures of the SRA domain bound to DNA double helix (orange) from the 3CLZ.pdb, modeled CMFT bound SRA (yellow) and methylated cytosine (green). Credit: Journal of Biological Chemistry (2024). DOI: 10.1016/j.jbc.2024.107443In a new study, Yale researchers identified a molecule that binds to a disease-associated macrophage migration inhibitory factor (MIF)...

Scientists uncover novel major risk gene for autoimmune thyroid disease
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Scientists uncover novel major risk gene for autoimmune thyroid disease

JULY 12, 2024 by deCODE genetics LAG3 5′ UTR variant rs781745126-T creates a novel upstream open reading frame (uORF) and associates with lower plasma levels of LAG-3. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-50007-7Scientists at deCODE genetics have published a study in Nature Communications, comparing over 110 thousand patients with autoimmune thyroid disease (AITD) from Iceland,...

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New molecules to modulate gene expression

A new research paper published in Nature Communications lays the groundwork for the development of new drugs specific to genetic mutations or alterations responsible for the onset of tumours or genetic diseases Peer-Reviewed PublicationISTITUTO ITALIANO DI TECNOLOGIA – IIT IMAGE: BLOCKING OF THE SPLICING ACTIVE SITE BY SPECIFIC SMALL MOLECULES view moreCREDIT: ISABEL ROMERO CALVO/EMBL...

New class of cancer mutations discovered in so-called ‘junk’ DNA
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New class of cancer mutations discovered in so-called ‘junk’ DNA

JULY 3, 2024 by Garvan Institute of Medical Research Visualized DNA damage (green) in human breast cancer cells (blue). Credit: Garvan InstituteUsing artificial intelligence, Garvan Institute researchers have found potential cancer drivers hidden in so-called ‘junk’ regions of DNA, opening up possibilities for a new approach to diagnosis and treatment. Non-coding DNA—the 98% of our...