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Clinical genetics news
A small mutation, a big impact: New findings on rare heart conditions
Cardiomyopathies are a group of mostly hereditary, rare heart diseases in which the structure of heart muscle tissue is impaired. This limits the heart's pumping capacity, leading to shortness of breath, reduced exercise ...
25 minutes ago
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How brain cells restore healthy growth and connections after a disease-causing genetic deletion
Scientists at Virginia Tech's Fralin Biomedical Research Institute at VTC have discovered how an experimental therapy can help brain cells overcome the effects of a disease-causing genetic deletion. Instead of repairing the ...
14 hours ago
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Genetic deletions may help explain differences in schizophrenia severity
Schizophrenia affects approximately 23 million people worldwide, with onset usually occurring during a person's late adolescence or 20s. Impairments associated with schizophrenia include hallucinations, delusions, and disorganized ...
13 hours ago
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Circadian gene variants offer new indicator of obesity risk in children
New research from the Guelph Family Health Study (GFHS) has found that circadian rhythm-related genes could influence the risk of obesity in children, highlighting an important connection between sleep and eating behavior.
14 hours ago
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New study reveals how blood cancers outsmart BTK-targeted therapies
Scientists at Sylvester Comprehensive Cancer Center, part of the University of Miami Miller School of Medicine, and collaborators have uncovered a rare genetic mutation that enables some blood cancers to evade both approved ...
18 hours ago
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Vitamin B3 treatment may halt severity of rare genetic disease
Children with a rare and often fatal genetic condition may benefit from early treatment with vitamin B3, halting significant deterioration, according to a new study.
22 hours ago
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Genetic risk factors of fibromyalgia identified in largest study of its kind
New genetic risk factors have been identified for fibromyalgia syndrome in a landmark study that involved scientists at King's College London. The study, published in Nature Medicine, highlights how the nervous system plays ...
Jul 28, 2026
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Study identifies new genetic variants that cause rare tumor disorder
A recent Northwestern Medicine study offers new data on previously unknown genetic variants that cause tuberous sclerosis complex, a rare genetic disorder that causes benign tumors to develop in many parts of the body, according ...
Jul 27, 2026
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Synthetic tumor data helps AI improve long-read cancer mutation detection
A research team at The University of Hong Kong (HKU), has developed ClairS—a deep-learning algorithm that significantly improves the detection of cancer mutations using long-read sequencing. Tested on breast cancer, lung ...
Jul 27, 2026
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Is your diet driving up your cholesterol? That may depend on your genes
Can a low-carb diet cause your cholesterol to skyrocket? This question has vexed researchers and influencers alike as the popularity of low-carbohydrate diets has surged, yet the evidence has remained mixed. New research ...
Jul 27, 2026
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Our genes may shape what we eat and our metabolic health
Ever wonder why some people crave sweets while others can take them or leave them? Preliminary findings from a new study suggest that people who carry certain genetic variants associated with a preference for sweet or fatty ...
Jul 27, 2026
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Chinese university investigating girl's death in gene-editing trial
A Chinese university is looking into reports that a gene-editing trial caused the death of a 6-year-old girl, which was not disclosed in the published research, the school said Sunday.
Jul 26, 2026
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Death of girl in Chinese gene-editing trial kept secret: Report
A 6-year-old Chinese girl died last year after receiving an experimental gene therapy to correct a non-life-threatening condition, according to an investigation by Science and Retraction Watch.
Jul 24, 2026
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Tiny BAP1 mutations can disrupt internal signals that suppress tumor growth
Scientists at the Institute of Biochemical Sciences at National Taiwan University have uncovered how tiny genetic changes can disable one of the body's most important tumor-suppressing proteins. Their study, published in ...
Jul 24, 2026
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Inherited gene variants may shape CAR-T therapy benefits and toxic side effects
Chimeric antigen receptor (CAR)-T cell therapy, which reprograms an individual's immune cells to seek out and destroy certain cancer cells, has revolutionized treatment for blood cancers such as lymphoma. But in some patients, ...
Jul 24, 2026
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Recall-by-genotype study demonstrates scalable path toward precision psychiatry
Clinical biobanks that combine genomic data with electronic health records (EHRs) have become powerful resources for discovering genetic variants associated with disease. These biobanks may also be used to identify individuals ...
Jul 24, 2026
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Blurred genome boundaries emerge as a new layer of Alzheimer's biology
Researchers from Carnegie Mellon University's School of Computer Science, the University of Pittsburgh School of Medicine and the University of Washington have shed new light on Alzheimer's disease that could point to new ...
Jul 23, 2026
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Two ways to read a genome: Body-wide, single-cell atlas maps DNA folding and methylation together
Every cell in the human body carries the same 3 billion letters of DNA, yet a neuron, a heart muscle cell and a pancreatic beta cell each use that shared code to do entirely different jobs. How cells pull off this trick comes ...
Jul 23, 2026
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Multi-omics map paves way for personalized medicine in Down syndrome
In a recent study published in Nature Communications, researchers from the University of Colorado Anschutz Linda Crnic Institute for Down Syndrome (Crnic Institute) discovered unique biological processes altered among individuals ...
Jul 23, 2026
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Chemotherapy leaves detectable DNA fingerprints in childhood tumors within 18 months
Nearly half of childhood tumors treated with common types of chemotherapy showed detectable DNA changes linked to treatment within 18 months, according to a new international study led by The Hospital for Sick Children (SickKids). ...
Jul 23, 2026
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Gene regulation map reveals treatment targets for heart failure
Researchers from the University of California San Diego have created the most detailed map to date of how gene regulation breaks down in human heart failure, revealing how genes are controlled in specific cell types as the ...
Jul 23, 2026
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Misfolded DNA blueprint: A new origin for genetic disease
Congenital heart disease is the most common birth defect, affecting approximately 1 in 100 babies born each year. One of the many causes of this disorder is having only one functional copy of the gene TBX5, rather than the ...
Jul 23, 2026
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Test offers new way to personalize treatment, reduce unnecessary chemotherapy for patients with breast cancer
A new cancer diagnostic test marketed by Veracyte and developed by a group of researchers, including UNC geneticist Charles Perou, Ph.D., has been found to accurately predict whether patients with breast cancer need chemotherapy ...
Jul 23, 2026
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Exceptional memory in 80s defies simple Alzheimer's genetic risk explanation
Many people assume that some memory decline is an inevitable consequence of getting older. But a select group of older adults, known as "SuperAgers," reach their 80s and 90s while retaining memory performance as good as or ...
Jul 22, 2026
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Three genetic modifiers may alter inherited Alzheimer's onset and progression
Autosomal dominant Alzheimer's disease (ADAD) is a genetically inherited form of Alzheimer's disease that accounts for only about 1% of Alzheimer's disease cases. However, because individuals with the gene mutations are extremely ...
Jul 22, 2026
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