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Clinical genetics news
Long-read DNA test lifts rare disease diagnoses and could replace 15 other tests
A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often. The test can replace 15 other tests, making it faster and more efficient. Researchers from Radboud ...
2 hours ago
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Faulty protein cleanup gene tied to severe early-onset neurological disorders
Though protein clumps associated with Alzheimer's and Parkinson's were discovered more than a century ago, researchers remain largely unable to prevent them from forming or eliminate them from the brain. And though a variety ...
17 hours ago
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Results of non-invasive prenatal testing compare well to those from invasive methods, with better safety and cost
While noninvasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by allowing the detection of a number of genetic problems in a fetus, it is currently limited and thus misses many genetic causes of abnormalities. ...
13 hours ago
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COPA mutations reveal alternative trigger for small intestine tumors
A signaling system known as the Wnt pathway plays a central role in how cells in the intestine grow, divide and renew themselves. Decades of research have shown that disruption of this pathway is a defining feature of many ...
21 hours ago
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Novel gene therapy platform restores muscle function in Duchenne muscular dystrophy model
A new treatment platform developed by researchers at the University of Texas MD Anderson Cancer Center was able to deliver messenger RNA (mRNA) of the full-length DMD gene into preclinical models of Duchenne muscular dystrophy, ...
Jun 11, 2026
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Genetic map for cocaine addiction points beyond brain to liver
Researchers at the University of California San Diego have completed a massive genetic study that identifies key biological drivers of cocaine addiction, uncovering a potential new target for treatment that resides in the ...
Jun 11, 2026
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HERC2 gene's key role in rare neurodevelopmental syndrome deciphered
For years, it has been known that mutations in both copies of the HERC2 gene are associated with a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, features of the autism spectrum ...
Jun 11, 2026
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Rat kidneys grown in mice offer new insights into addressing organ donor shortages
Kidney transplantation remains the most effective treatment for end-stage kidney disease, yet a severe shortage of donor organs continues to limit access for millions of patients worldwide. With demand for kidney transplants ...
Jun 11, 2026
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CRISPR enzyme precisely detects and shreds DNA in cancer mutations once considered 'undruggable'
In 2020, Jennifer Doudna won the Nobel Prize in chemistry for her work on the CRISPR-Cas9 gene-editing technology that allows scientists to precisely modify DNA by cutting it at specific locations. Six years later, a new ...
Decades-old puzzle solved as scientists uncover cause of inflammatory bowel disease
Researchers at the Nuffield Department of Medicine, University of Oxford, together with Newcastle University's Translational and Clinical Research Institute and the Department of Immunology at Cambridge University Hospitals ...
Jun 10, 2026
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Pangenome graph unlocks 20 near-complete variant groups in Japanese genomes
The race to complete the human pangenome—which comprises all genetic information across the human species—has been underway since 2022, when the first complete reference human genome sequence was released by the international ...
Jun 10, 2026
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A hidden DNA genome protector may explain why health and aging differ between men and women
How diseases develop and how the body ages can differ between females and males, but the biological reasons for these differences are not fully understood. Researchers are studying the role of sex chromosomes to better understand ...
Jun 10, 2026
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Early Rett syndrome clues emerge as 12 genes shift before symptoms appear
To better understand what drives the emergence of symptoms in Rett syndrome, researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital took a closer ...
Jun 10, 2026
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Human traits beyond inherited genes can still leave a measurable imprint on your life, study shows
Our parents' genes, even the ones we didn't inherit, leave a measurable lasting imprint on our lives. An international team led by researchers at the Institute of Science and Technology Austria (ISTA) and the Norwegian Institute ...
Jun 9, 2026
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Novel genetic links for anxiety symptoms uncovered in largest study to date
A study led by researchers at King's College London and QIMR Berghofer Medical Research Institute has analyzed genetic data on anxiety symptoms in 693,869 people of European ancestry, revealing new insights into the genetic ...
Jun 9, 2026
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What drives lower-back nerve pain? Genetic clues could reshape stenosis care
An international research team has identified dozens of new genetic risk factors linked to lumbar spinal stenosis, a common degenerative condition of the lower spine. The study, led by researchers at the University of Oulu, ...
Jun 9, 2026
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First-in-the-world gene therapy delivers missing gene directly to infant's brain
An 8-month-old infant with severe genetic epilepsy has become the first patient in the world to receive an experimental gene replacement therapy designed to restore the function of the WWOX gene directly in the brain. The ...
Jun 8, 2026
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Why one diabetes drug may sharply cut heart failure risk for genetically vulnerable patients
Rare genetic variants known to cause cardiomyopathy, an inherited cause of a weak heart, can increase the risk of patients developing heart failure. However, new research from Mass General Brigham Heart and Vascular Institute ...
Jun 8, 2026
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3D genome architecture pre-wires early developmental decisions
New research tracks how cells prepare gene regulatory decisions that will define their fate during the earliest stages of human development. The study reconstructs a timeline of chromosome folding that brings remote DNA regulatory ...
Jun 8, 2026
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Early-onset breast cancer in Black women links most often to BRCA1 and BRCA2 variants
Black women experience disproportionately elevated risks of developing and dying from early-onset breast cancer. New research published in the journal Cancer reveals the genes that are most likely to be mutated to contribute ...
Jun 8, 2026
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Novel disorder causing severe respiratory dysfunction linked to loss-of-function gene variant
A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which results in severe lung disease. Researchers at Baylor College of Medicine, ...
Jun 8, 2026
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A heritable 'brake' for stopping cocaine use in rats
Cocaine produces strong euphoric effects, but many users experience unpleasant effects after the rewarding aspects of the drug wear off, which serve as a "brake" for continued use. Research suggests that those who go on to ...
Jun 8, 2026
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Using patient-derived research models to study deadly DNA loops
Damage to DNA in cancer cells can lead to pieces breaking off chromosomes and floating away, like icebergs cracking off a glacier. Just as icebergs are a threat to ships and their crew, these scattered bits of DNA loom large ...
Jun 8, 2026
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Long-hidden 'junk DNA' regions may help explain cancer-linked genome instability
Many repetitive regions of the genome have been considered "junk DNA" because the available technologies did not allow them to be studied at sufficient resolution. This is the case for the SST1/NBL2 macrosatellites, considered ...
Jun 5, 2026
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Favorable lifestyle and health linked to lower dementia risk even in people with a genetic risk factor
With dementia cases expected to nearly triple worldwide by 2050, researchers are increasingly focused on identifying ways to prevent or delay the disease. While lifestyle and health-related factors, such as blood pressure ...
Jun 5, 2026
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