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Clinical genetics news
Parkinson's gene linked to early dysfunction in brain cells
Northwestern Medicine scientists have uncovered how a major Parkinson's disease gene disrupts the brain's most vulnerable dopamine-producing neurons before detectable neuronal loss. The study offers new clues for developing ...
7 hours ago
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Rare chromosomal differences found in children with fetal alcohol spectrum disorder
One in four children diagnosed with fetal alcohol spectrum disorder was found to have rare chromosomal differences at considerably higher rates than the general population, according to a study published in Alcohol: Clinical ...
6 hours ago
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New insights into genetic architecture of a rare systemic inflammatory disease in East Asian populations
Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic inflammatory disease characterized by eosinophilia, an abnormal increase in eosinophils—a type of white blood cell—and inflammation of small blood vessels ...
7 hours ago
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Somatic mutations linked to vascular damage in progeria
Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder that causes remarkable premature aging. Most patients die during their teenage years from cardiovascular disease, but the precise mechanisms underlying vascular ...
Aug 2, 2026
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X-chromosome inactivation attracts mutations that increase risk of hemophilia and muscular dystrophy
In a study published in the journal Science, researchers in Queensland and the United States discovered that the human X chromosome attracts an unusual kind of DNA mutation, potentially doubling the risk of certain genetic ...
Jul 31, 2026
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Why does an irregular heartbeat show up 40 years early for some people?
An estimated 10 million Americans have atrial fibrillation (AFib), according to the National Institutes of Health's National Heart, Lung, and Blood Institute. AFib is a condition in which the upper chambers of the heart beat ...
Jul 31, 2026
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Newly discovered microprotein linked to type 2 diabetes, shows promise as a precision treatment
A previously unknown microprotein hidden within the human mitochondrial genome may help explain certain forms of type 2 diabetes and could point toward a new precision medicine approach to treating it, according to a new ...
Jul 30, 2026
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Family history raises breast cancer risk even when BRCA testing is negative
Women who test negative for BRCA gene mutations may still be at greater risk of developing breast cancer than the general population, according to a study led by Cedars-Sinai Health Sciences University investigators.
Jul 30, 2026
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New research identifies barriers transgender individuals face related to breast cancer risk
Transgender and gender-diverse (TGD) individuals experience significant health care disparities across the oncology spectrum of care. Systemic barriers, past harmful health care experiences, the sociopolitical climate and ...
Jul 30, 2026
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NPTN gene changes linked to rare developmental disorders in eight children
For some families, the reason their child is not developing as expected remains unclear for a long time. Researchers at the Leibniz Institute for Neurobiology (LIN) in Magdeburg have now identified a genetic cause of a previously ...
Jul 30, 2026
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Gene editing tool reduces Huntington's toxic protein fragments and symptoms in mice
A gene-editing tool designed to precisely rewrite the gene that causes Huntington's disease reduced toxic protein fragments and symptoms associated with the disease in mice, researchers at the University of Illinois Urbana-Champaign ...
Jul 29, 2026
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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 ...
Jul 29, 2026
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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 ...
Jul 28, 2026
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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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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 ...
Jul 28, 2026
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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 ...
Jul 28, 2026
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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.
Jul 28, 2026
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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.
Jul 28, 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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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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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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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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