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Clinical genetics news
Non-coding gene is linked to core social and behavioral traits in autism
A long-overlooked stretch of the human genome appears to play a distinct role in shaping the social and stereotypic repetitive behaviors that define autism spectrum disorder (ASD), without affecting learning or other cognitive ...
15 hours ago
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Genetic risk of schizophrenia manifests in early adolescence, study shows
Research has found that children with higher genetic susceptibility to schizophrenia show decreases in frontal cortical surface area during early adolescence, in contrast to the regional expansion observed in children with ...
10 hours ago
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Researchers successfully treat hereditary epilepsy in a mouse model
In a world first, a research team at the University of Zurich has successfully treated mice carrying an inherited form of epilepsy. The scientists used gene editing to fix faulty DNA directly in the brain cells of mice, which ...
10 hours ago
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Genetic link between cannabis use and psychosis could help to identify those most at risk
New research from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London has highlighted the distinct and shared molecular pathways linking cannabis use disorder (CUD) and psychosis, offering ...
11 hours ago
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A 13-gene panel may help predict response to chemotherapy in triple-negative breast cancer
Researchers at The University of Texas MD Anderson Cancer Center have characterized cancer cell-specific features in the tumor microenvironment (TME) of early-stage triple-negative breast cancer (TNBC) tissues, identifying ...
15 hours ago
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Calculating cancer risk through the genetic fingerprints of tumors
Why do two people with the same cancer diagnosis—the same stage, the same cell type, and the same clinical profile—often have completely different outcomes? For decades, scientists have studied acquired mutations in cancer ...
18 hours ago
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New guideline aims to reduce severe allergic reactions to epilepsy drugs
Researchers from the Center of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI-PGx) have published a new prescribing guideline aimed at reducing the incidence of serious allergic reactions to common ...
17 hours ago
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Gut problems in people with a genetic disorder are not caused by structural problems with the esophagus, study confirms
A study, led by experts at the University of Nottingham, has found that persistent and distressing upper gut symptoms experienced by people with hypermobile Ehlers-Danlos syndrome (hEDS), are not due to structural problems ...
19 hours ago
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New genomic approaches uncover surprising cellular dynamics of the aging brain
While much is mysterious about the aging process, change over time remains its cornerstone. The biological shifts that accompany aging seemingly occur in many cells in the body. The problem is, we have tens of billions of ...
May 12, 2026
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Research into Friedreich's ataxia reveals how DNA folding can silence a key gene
Researchers have uncovered a fundamental rule that governs how genes are physically arranged inside the cell nucleus, and how disruptions to that organization can contribute to human disease.
May 12, 2026
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Human islet map links cell mix to insulin output and diabetes risk
Diabetes is the most common and serious chronic disease worldwide, characterized by insufficient insulin to maintain proper blood glucose levels. It affects more than 12% of Americans and is the eighth leading cause of death ...
May 12, 2026
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Tiny worms, with help from researchers, may hold key to treating rare childhood disease
A new worm model developed by Brown University researchers could play a key role in treating a rare genetic disease that causes paralysis in children and worsens with age. Developed in the lab of neuroscientist Anne Hart, ...
May 12, 2026
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Loss of the X chromosome is associated with reduced chance of natural pregnancy
Chromosomes carry genetic information for biological sex, which generally assigns women two X chromosomes and men XY chromosomes. This is a basic principle of human genetics most are taught in grade school biology, but it ...
May 12, 2026
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Are your meds and DNA a bad match? This test alerts clinicians
Differences in people's genes can affect how they respond to medications, including how well a drug works and the chances of side effects. About 1 in 10 of prescriptions given to patients outside the hospital don't work as ...
May 12, 2026
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A hidden inheritance could explain disease risks beyond DNA: Q&A
When we think about genetic inheritance, we usually leap to DNA, the four-letter code containing the instructions for building a living organism. Scientists know that DNA encodes everything from hair and eye color to a person's ...
May 11, 2026
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Children with rare debilitating brain diseases suffer from mutations in a little-known protein complex
Thousands of times per year, a family's moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny child suffers seizures and breathing problems.
May 8, 2026
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How a tiny cell structure may shape brain development and drive disease
A largely overlooked structure inside our cells may play a crucial role in how the brain forms, offering new insight into developmental disorders and potential therapies.
May 8, 2026
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What lies behind hereditary heart rhythm disorders
Short QT syndrome is a genetic disease that leads to sudden cardiac death at a young age. Mutations in the SLC4A3 gene, which regulates bicarbonate-chloride exchange, were recently described as a potential cause. An international ...
May 8, 2026
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Hidden sex differences may explain why lupus strikes women far more often
Ahead of World Lupus Day on May 10, new research from the Garvan Institute of Medical Research and UNSW Sydney helps explain why women are significantly more likely to be diagnosed with an autoimmune disease—a condition where ...
May 7, 2026
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Cancer cells are better able to resist treatments when they have an abnormal number of chromosomes
A new study led by NYU Langone Health researchers has found that cancer cells are better able to resist treatments when they have an abnormal number of chromosomes, the DNA strands wound up in bundles that control which genetic ...
May 7, 2026
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Why unusually long telomeres could raise lymphoma risk and reshape cancer monitoring
Researchers at the Johns Hopkins Kimmel Cancer Center and the Telomere Clinic at Johns Hopkins have identified a genetic syndrome in which unusually long telomeres—the protective caps at the ends of chromosomes—allow immune ...
May 7, 2026
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Gene duplication tied to juvenile glaucoma in 20 patients across 10 families
A major international study led by Flinders University has identified a genetic contributor to juvenile glaucoma. Published today in the journal JAMA Ophthalmology, the study marks another important step toward treating multiple ...
May 7, 2026
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National study examines genetic testing to inform follow-up care for cancer survivors
Hundreds of thousands of people diagnosed with cancer are still alive today but were never genetically tested, either because testing was not available or was not routinely offered at the time of their diagnosis. These patients ...
May 7, 2026
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One overlooked detail in cancer genomes is rewriting which mutations really matter
It's a fundamental principle of science: Correlation does not equal causation. Every cancer cell has genetic mutations, but not all of those mutations necessarily drive the cancer.
May 6, 2026
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Blood protein study of 78,000 people uncovers disease mechanisms and drug repurposing leads
Involving a collaboration with 118 investigators contributing from 89 institutions, scientists from Queen Mary University of London's Precision Healthcare University Research Institute and Berlin Institute of Health (BIH) ...
May 6, 2026
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