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Clinical genetics news
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.
5 hours ago
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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 ...
6 hours ago
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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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Rapid genomic testing helps 1,100 families worldwide target treatment for rare childhood disease
An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.
May 6, 2026
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Same genetic mutation, different clinical outcomes: Study shows why neurodevelopmental disorders vary so widely
Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only ...
May 5, 2026
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Unmasking autism spectrum disorder through its gene-based roots
Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum disorder (ASD), the neurodevelopmental disease characterized by impaired communication, abnormal ...
May 5, 2026
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Complete remission of aggressive pituitary tumor achieved through immunotherapy
Researchers at the University of Cincinnati Gardner Neuroscience Institute's Brain Tumor Center have been confirmed as the first in the world to achieve complete remission of a rare pituitary cancer using a novel immunotherapy ...
May 4, 2026
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Many genes have been linked to autism—but a new study suggests it may be their path to the brain that matters
In recent years, scientists have identified hundreds of different genes associated with autism, a burst of discovery that has prompted a new and perplexing question: how can so many different genes produce the same or very ...
May 4, 2026
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How sugar fuels sight: Glucose metabolism linked to epigenetic and gene expression changes in the retina
National Eye Institute (NEI) scientists have found that the way the retina metabolizes glucose directly controls which genes get switched on and off in light-sensing photoreceptors. The findings suggest that metabolic disruptions ...
May 4, 2026
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Digital archive opens funding 'black box' behind genomics breakthroughs
A new digital archive developed by Northwestern scientists reveals how state-supported research funding agencies cooperate with the scientific community to decide to support scientific research projects and contribute to ...
May 4, 2026
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Family data reveal two genetic paths to childhood depression and anxiety
Many common mental health disorders, including depression and anxiety, are associated with a tendency to internalize problems or, in other words, to direct feelings inwards instead of expressing them and sharing them with ...
Discovery of a new gene pattern could help doctors identify Ebola faster and more accurately
When someone is infected with Ebola, the body mounts a strong immune response, as it does in response to many pathogens. Researchers at the Wake Forest Institute for Regenerative Medicine (WFIRM) have now made an important ...
May 3, 2026
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Cold skin, hot heart, one gene: Hidden temperature switch decides where disease appears
The saying "cold hands, warm heart" is usually meant metaphorically—but new research from UC Davis School of Medicine and collaborating institutions suggests it has a striking biological parallel.
May 2, 2026
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Cell-by-cell analysis uncovers 345 risk genes across six neuropsychiatric disorders
The emergence of neuropsychiatric disorders, conditions that affect various brain functions and behaviors, is known to be driven by an intricate combination of factors. These can include both a genetic predisposition and ...
A gene that keeps intestinal stem cells stable offers insight into how tissues repair themselves
Years before he conducted the research that would earn him a Nobel Prize in Physiology and Medicine, Shinya Yamanaka, MD, Ph.D., was a postdoctoral scientist at Gladstone Institutes, studying genes. There, he helped discover ...
Apr 30, 2026
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Genetic discovery may explain why pancreatic cancer is so difficult to treat
Pancreatic cancer can remain quiet for years, developing undetected before causing symptoms that lead to a diagnosis. Even after a surgeon removes a pancreas tumor, other cells often hide and erupt later. But University of ...
Apr 30, 2026
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A study in 1.4 million women expands knowledge on endometriosis and its biological complexity
Endometriosis, a chronic inflammatory disease that affects approximately one in ten women of reproductive age—around 190 million worldwide—remains poorly understood from a biological perspective, which has historically hindered ...
Apr 30, 2026
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Predicting genetic risk for type 1 diabetes just got more accurate thanks to machine learning study
In people with type 1 diabetes (T1D), the immune system shuts down the body's ability to make the hormone insulin, responsible for regulating blood sugar and providing cells with glucose to produce energy. As a result, they ...
Apr 30, 2026
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