Researchers identify new mutation in gene linked to amyotrophic lateral sclerosis
Researchers have identified a new mutation in the ARPP21 gene that could be the cause of amyotrophic lateral sclerosis (ALS), a devastating neurodegenerative disease. The researchers are from the Neuromuscular Diseases Group ...
13 hours ago
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Scientists uncover novel major risk gene for autoimmune thyroid disease
Scientists at deCODE genetics have published a study in Nature Communications, comparing over 110 thousand patients with autoimmune thyroid disease (AITD) from Iceland, Finland, UK and U.S. with 1.1 million controls. The ...
15 hours ago
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Vegetarian diet benefits aren't one-size-fits-all, says study
When it comes to determining whether a vegetarian diet is right for you, genetics are an important part of the equation, according to a new study from the University of Georgia.
Jul 11, 2024
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Discovery of gene linked to neurodevelopmental disorders offers hope for future treatments
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.
Jul 11, 2024
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New discovery suggests opportunity to improve effectiveness of KRAS inhibitors against pancreatic cancer
Mutations in the KRAS gene are the primary driver of pancreatic cancer. A new class of drugs known as KRAS inhibitors is showing initial promise in clinical trials, but many tumors quickly develop resistance to the treatment.
Jul 11, 2024
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Understanding the roots of chronic pain—research suggests new target for analgesics
A team of researchers led by Oscar Sánchez-Carranza in Professor Gary Lewin's lab at the Max Delbrück Center have identified a new function for the PIEZO2 protein—in mediating chronic pain hypersensitivity. The research ...
Jul 11, 2024
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Novel genome editing approach restores hearing in adult preclinical models with genetic deafness
Mass Eye and Ear researchers restored hearing in preclinical mouse models with a specific form of inherited deafness called DFNA50 caused by mutations in microRNA, by using a novel in vivo CRISPR genome editing approach. ...
Jul 11, 2024
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Researchers pave way to target an autoimmune disease-associated gene variant
In a new study, Yale researchers identified a molecule that binds to a disease-associated macrophage migration inhibitory factor (MIF) gene variant. The discovery, they say, could lead to the development of a new generation ...
Jul 11, 2024
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Uncovering late-onset combined immune deficiency in chromosome 18q deletion syndrome
Chromosome 18q deletion (18q del) syndrome is a rare genetic disorder, affecting approximately 1 in 40,000 to 55,000 individuals, caused by the deletion of genetic material on the long arm of chromosome 18. This genetic anomaly ...
Jul 11, 2024
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Macaque study provides insights for future clinical diagnosis and treatment of glaucoma
A study, titled "Single-cell transcriptomic Atlas of aging macaque ocular outflow tissues" appearing in Protein & Cell, delves into the age-related changes in the trabecular meshwork (TM) of macaques, which are vital for ...
Jul 11, 2024
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Charting an equitable future for DNA and ancient DNA research in Africa
Today, the American Journal of Human Genetics published a perspective piece on the need for an equitable and inclusive future for DNA and ancient DNA (aDNA) research in Africa. The paper, coauthored by an international team ...
Jul 11, 2024
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Fossils of ancient chromosomes make it possible to assemble the genomes of extinct species
A team led by scientists from Baylor College of Medicine, University of Copenhagen, and Center Nacional d'Anàlisi Genòmica and Center for Genomic Regulation report discovering fossils of ancient chromosomes in the remains ...
Jul 11, 2024
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Prime editing efficiently corrects cystic fibrosis mutation in human lung cells, study shows
Cystic fibrosis is one of the most common genetic disorders, causing thick mucus build-up in the lungs and other parts of the body, breathing problems, and infection. A three-drug cocktail known as Trikafta has greatly improved ...
Jul 10, 2024
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Researchers build first-ever molecular atlas of blood vessel pathways in human brain
An international consortium of researchers led by University Health Network (UHN) in Toronto and University of Zurich have built the first-ever molecular atlas of the human brain vasculature at single-cell resolution, spanning ...
Jul 10, 2024
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Study elucidates mechanism behind cardiac fibrosis, opening way for new heart failure treatments
Cardiovascular disease often culminates in heart failure, a hallmark of which is fibrosis, a form of tissue scarring. Cardiac fibrosis initially repairs damaged heart tissue, but it can quickly become excessive and pathological. ...
Jul 10, 2024
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Gene set identifies glioblastomas most vulnerable to promising therapeutic
Researchers from TGen, part of City of Hope, and from the University of California, San Diego have identified a set of genes that helps predict whether a patient's glioblastoma might respond to some promising drugs called ...
Jul 10, 2024
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3D genome features point to possible therapeutic target for aggressive and deadly pediatric brain tumors
Posterior fossa group A (PFA) ependymoma are rare, treatment-resistant pediatric tumors of the central nervous system that originate in the brain and spinal cord. They have the highest recurrence rate and poorest prognosis ...
Jul 10, 2024
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Proteogenomics analysis of high-grade gliomas offers hints on tumor evolution
In August 2023, a team of researchers including Dr. Eduard Porta, group leader at the Josep Carreras Institute, published a thorough analysis of the effects of cancer driver alterations found across different cancer types, ...
Jul 10, 2024
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