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Clinical genetics news
Genome-wide analysis reveals host–virus genetic interactions in cancer risk
A study from Columbia University Mailman School of Public Health reports a major advance in understanding how interactions between human and viral genomes shape disease risk. The research found that variations in the Epstein–Barr ...
2 hours ago
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A powerful new cancer map tracks hundreds of mutations to one escape route and exposes a drug target
Diseases like cancer or neurodegeneration are known to arise from genetic misfires. But treating such complex conditions hasn't been simply a matter of identifying the malfunctioning genes involved. With hundreds of genetic ...
2 hours ago
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BRCA's cancer map just grew: Gene mutations now implicated in thyroid, bladder, skin and head-neck cancers
An international group led by researchers from the RIKEN Center for Integrative Medical Sciences (IMS) in Japan has discovered associations between pathogenic variants of the BRCA 1 and 2 genes and four types of cancer. Published ...
1 hour ago
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Blood test predicts kidney failure risk to Black Americans years before onset
A new blood test can identify which individuals of African ancestry carrying high-risk APOL1 gene variants are most likely to develop kidney failure, years before clinical disease becomes apparent. Findings on the new test, ...
8 hours ago
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Overlooked ribosomal DNA may help explain human size differences
Ribosomal RNA (rRNA), made from many copies of ribosomal DNA (rDNA), is the core component that powers ribosomes—protein-building machines in our body. It helps build proteins by linking amino acids together, and can also ...
Rett syndrome study highlights potential for personalized treatments
Though many studies approach the developmental disorder Rett syndrome as a single condition arising from general loss of function in the gene MECP2, a new study by neuroscientists at The Picower Institute for Learning and ...
20 hours ago
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Base editing repairs mutation and liver function in mouse model of Zellweger spectrum disorder
In 2025, baby KJ Muldoon became the first person to receive a personalized gene editing treatment, which likely saved his life. But the scientific advances that made the groundbreaking treatment possible were years in the ...
22 hours ago
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CRISPR takes a bold leap toward silencing Down syndrome's extra chromosome
Scientists have taken an important step toward a gene therapy that could one day turn off the extra genetic material that causes Down syndrome (DS). Down syndrome is a genetic condition caused by an extra chromosome 21 (and ...
Largest study of pregnancy sickness uncovers six new genetic links
The USC research team that recently identified the hormone-encoding gene GDF15 as a key driver of pregnancy sickness has identified nine additional genes linked to its most severe form, hyperemesis gravidarum (HG). Six of ...
Apr 14, 2026
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Chloride ions do more than help neurons fire—they may also help control how genes are expressed
Chloride ions, best known for helping cells maintain fluid balance and electrical stability, may also play a more direct role in regulating brain development than previously thought. In a new study, published in the journal ...
Neuroinflammation triggers autism-like regression in mouse model
Autism spectrum disorder (ASD) is a neurodevelopmental condition estimated to affect approximately 1 in 100 children worldwide. This condition is characterized by differences in how people communicate and interact with others, ...
Newly identified RPN1 disease helps explain how protein damage can disrupt early brain development
Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease. In ...
Apr 13, 2026
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Lab-grown retina gives gene change clue to rare childhood eye condition
A study using tiny retinas grown in a lab has revealed how subtle changes in a key growth-controlling protein can lead to a condition causing serious eye defects from birth. The findings, published in the journal Biochimica ...
Apr 13, 2026
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Genetic variants in 1 in 10 people may reduce blood‑sugar response to GLP‑1 diabetes drugs
More than a quarter of people with Type 2 diabetes take GLP-1 receptor agonists, but the popular diabetes drugs might not work as well for people who have certain genetic variants, according to a new study by Stanford Medicine ...
Apr 11, 2026
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Experimental drug cuts Parkinson's-linked protein up to 60% in early trial
An experimental drug designed to silence a gene strongly linked to Parkinson's disease has shown encouraging effects in a first-in-human clinical trial, according to a study published in Nature Medicine. The drug, known as ...
Apr 11, 2026
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Skin protein K16 found to control inflammation in stressed skin
Keratin is the fibrous, waterproof protein that builds everything from our hair and nails to a rhino's horn. However, a tiny glitch in it can have problematic outcomes. A new study has found that changes in a keratin gene ...
Long non-coding RNA may be a promising therapeutic target for cancer
Northwestern Medicine scientists have discovered that a specific long non-coding RNA activates oncogenic signaling pathways in prostate cancer cells and drives tumor progression, underscoring its potential as a therapeutic ...
Apr 9, 2026
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Overlooked non-coding genes cause diabetes in babies, study reveals
Scientists have found new genetic causes for diabetes in babies—in a part of the genome that has historically been overlooked in genetic studies. Until recently, most research has investigated causes of disease in "coding" ...
Apr 9, 2026
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Why autism affects more men than women—MDGA1 gene mutation may help explain
Researchers have discovered that a mutation of the MDGA1 gene, a key factor modulating the connections and characteristics between nerve cells, serves as a new cause of autism spectrum disorder (ASD), and suggested the possibility ...
Apr 9, 2026
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New method provides clearer view of how genome functions in cancer
Researchers at the University of Minnesota Medical School have developed a new method called PARTAGE that provides a clearer picture of how the genome is regulated and disrupted in diseases like cancer. The findings were ...
Apr 9, 2026
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Mental and physical illnesses go hand in hand. A new genetic study explains why
For centuries, mental illness and physical disease have been viewed as two distinct categories, each with its own field of study, its own doctors, and its own menu of treatments. New University of Colorado Boulder research ...
Apr 8, 2026
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Mapping mutations at scale in a single gene reveals new neurodevelopmental condition
The ability of different genetic variants—changes to one or more building blocks of DNA—to cause disease, and to what extent, has historically been opaque. Geneticist and Crick group leader Greg Findlay has pioneered a new ...
Apr 8, 2026
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Extra chromosomes may seed childhood leukemia years before disease, study suggests
B-cell acute lymphoblastic leukemia is the most common form of childhood cancer. In this type of cancer, which affects blood cells, one of the most common abnormalities is the presence of cells with an excess of chromosomes ...
Apr 8, 2026
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Lab-grown pineal gland organoids produce melatonin, offering a new sleep model
Organoids are miniature, simplified versions of an organ. Over the past two decades, scientists have developed them for the gut, lung, liver, mammary gland, brain, and more. Now, researchers at Yale School of Medicine (YSM) ...
Apr 8, 2026
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Genetic predictors for GLP-1 weight loss efficacy and side effects identified
23andMe Research Institute, a nonprofit medical research organization, announced the publication of a study that identifies genetic predictors for GLP-1 weight loss efficacy and side effects. GLP-1 receptor agonists, including ...
Apr 8, 2026
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