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Clinical genetics news
3D genome architecture pre-wires early developmental decisions
New research tracks how cells prepare gene regulatory decisions that will define their fate during the earliest stages of human development. The study reconstructs a timeline of chromosome folding that brings remote DNA regulatory ...
8 hours ago
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First-in-the-world gene therapy delivers missing gene directly to infant's brain
An 8-month-old infant with severe genetic epilepsy has become the first patient in the world to receive an experimental gene replacement therapy designed to restore the function of the WWOX gene directly in the brain. The ...
12 hours ago
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Why one diabetes drug may sharply cut heart failure risk for genetically vulnerable patients
Rare genetic variants known to cause cardiomyopathy, an inherited cause of a weak heart, can increase the risk of patients developing heart failure. However, new research from Mass General Brigham Heart and Vascular Institute ...
21 hours ago
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A heritable 'brake' for stopping cocaine use in rats
Cocaine produces strong euphoric effects, but many users experience unpleasant effects after the rewarding aspects of the drug wear off, which serve as a "brake" for continued use. Research suggests that those who go on to ...
13 hours ago
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Novel disorder causing severe respiratory dysfunction linked to loss-of-function gene variant
A new report in the American Journal of Human Genetics describes a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, which results in severe lung disease. Researchers at Baylor College of Medicine, ...
13 hours ago
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Using patient-derived research models to study deadly DNA loops
Damage to DNA in cancer cells can lead to pieces breaking off chromosomes and floating away, like icebergs cracking off a glacier. Just as icebergs are a threat to ships and their crew, these scattered bits of DNA loom large ...
18 hours ago
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Early-onset breast cancer in Black women links most often to BRCA1 and BRCA2 variants
Black women experience disproportionately elevated risks of developing and dying from early-onset breast cancer. New research published in the journal Cancer reveals the genes that are most likely to be mutated to contribute ...
23 hours ago
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Long-hidden 'junk DNA' regions may help explain cancer-linked genome instability
Many repetitive regions of the genome have been considered "junk DNA" because the available technologies did not allow them to be studied at sufficient resolution. This is the case for the SST1/NBL2 macrosatellites, considered ...
Jun 5, 2026
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Favorable lifestyle and health linked to lower dementia risk even in people with a genetic risk factor
With dementia cases expected to nearly triple worldwide by 2050, researchers are increasingly focused on identifying ways to prevent or delay the disease. While lifestyle and health-related factors, such as blood pressure ...
Jun 5, 2026
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Autism risk framework tracks genes, maternal factors and environment across 18,000 families
A new statistical framework developed by researchers at the Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University School of Medicine, and Kaiser Permanente Northern California offers improved understanding ...
Jun 4, 2026
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Alzheimer's gene map expands to 91 loci, revealing 16 previously unknown risk regions
An international collaboration of genetic researchers has identified more than 90 genetic regions associated with the risk of Alzheimer's disease and related dementias. The large-scale meta-analysis reveals new biological ...
Jun 4, 2026
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Heart elasticity may hinge on a hidden genetic switch
The human heart must constantly adapt to changing demands—a task that requires tightly coordinated molecular shuffling in heart cells. One of the key regulators of this process is RBM20, a protein that controls an editing ...
Jun 4, 2026
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2.2 million-cell atlas reveals how genes drive inflammatory bowel disease risk
Scientists have created the most detailed cell map to date showing how genetic variation influences inflammatory bowel disease (IBD), revealing the specific cells and genes that drive the disease. Published in Nature, the ...
Jun 3, 2026
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Unexpected chromosome interaction fuels aggressive cancers, researchers discover
Published in Nature, researchers at the University of Pittsburgh School of Medicine and UPMC Hillman Cancer Center report a previously unrecognized change in how the cell's genetic material is packaged into structures called ...
Jun 3, 2026
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Neuron 'ground plans' could simplify brain and behavior research
While E. Josie Clowney would never suggest that neuroscience is simple, a new study by her team at the University of Michigan could drastically reduce complexity in future studies. Their work focused on instinctual behaviors ...
Jun 3, 2026
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AI tool simplifies and scales complete genome assembly, supporting advances in diagnostics and precision medicine
An international research team led by the A*STAR Genome Institute of Singapore (A*STAR GIS) has developed HERRO, an artificial intelligence (AI) tool that could make it easier and more cost-effective to produce complete, ...
Jun 3, 2026
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Genetics for high pulse pressure associated with higher risk of dementia-related death
When looking at genetic variants in a person's DNA that predispose them to disease, a new study has found having a higher number of genetic variants for increased pulse pressure is associated with a small, increased risk ...
Jun 3, 2026
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Genetic trade-off between youth and longevity uncovered
A new study identifies vgll3 as a key gene that promotes rapid growth and early reproduction while increasing the risk of aging and cancer later in life. The findings provide rare experimental evidence for the theory that ...
Jun 2, 2026
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CRISPR model links faulty collagen to brain microbleeds tied to memory decline
Millions of older adults have tiny brain hemorrhages called cerebral microbleeds, which are strongly associated with dementia, cognitive decline, and stroke. However, their precise molecular mechanisms have remained unclear, ...
Jun 2, 2026
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Genetic testing allows fast diagnosis of rare pancreatic condition in 98% of babies
The DNA changes responsible for a rare genetic condition causing babies to be born without a pancreas can now be identified in almost all affected children through genetic testing. That's according to a new study from the ...
Jun 1, 2026
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Gestational diabetes shares strong genetic links with type 2 diabetes
New evidence has emerged showing that diabetes developed during pregnancy is likely an early manifestation of type 2 diabetes, triggered by the stresses pregnancy places on the body. In the largest study of its kind, University ...
Jun 1, 2026
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TP53 gene mutations affect lung cancer treatment response, study shows
Lung cancer is the most common and deadly form of cancer worldwide. It is increasingly understood to be a complex genetic disease with different mutations that vary according to factors such as smoking and ethnicity. These ...
Jun 1, 2026
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Breast cancer risk models fall short for women with family history, study finds
Researchers from Trinity College Dublin, St James's Hospital, and collaborating institutions have carried out the most comprehensive review to date of tools used to estimate breast cancer risk in women with a family history ...
Jun 1, 2026
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Workout habits may protect against inherited heart problems, findings suggest
Folks who regularly exercise can lower their risk of heart attack and heart failure linked to a genetic heart condition, a new study says. People with higher levels of moderate to vigorous physical activity had lower rates ...
Jun 1, 2026
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First comprehensive look at breast cancer in Native American women reveals key genetic differences
Researchers from the University of Notre Dame have published the first known detailed study of breast cancer tissue from Native American women. The study, published in npj Precision Oncology, reveals important molecular differences ...
May 31, 2026
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