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Clinical genetics news
3D genome mapping in rare immune cells reveals new Crohn's disease genes
A new study co-led by professor Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, published in Nature Genetics, uncovers how the three-dimensional organization of DNA in rare immune cells ...
7 hours ago
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Researchers uncover hidden mechanism behind congenital heart disease
Congenital heart disease affects approximately two in every 100 newborns globally. But why does it occur? An important part of the answer may lie in a previously unknown mechanism on the surface of our cells. Researchers ...
9 hours ago
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Evolutionary history may help explain why some people develop more severe COVID-19 than others
Every time a virus invades a person, it collides with thousands of years of human history. A study led by researchers at the USC Dornsife College of Letters, Arts and Sciences and Howard University suggests that some of the ...
14 hours ago
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Lower cardiac output predicts faster brain loss in carriers of Alzheimer's disease risk gene
In a longitudinal study conducted at Vanderbilt Health, including investigators from the Vanderbilt Memory and Alzheimer's Center (VMAC), researchers found that lower cardiac output is associated with accelerated cerebral ...
9 hours ago
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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 ...
Aug 3, 2026
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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 ...
Aug 3, 2026
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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 ...
Aug 3, 2026
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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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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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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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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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