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Clinical genetics news
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 ...
20 hours ago
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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 ...
18 hours ago
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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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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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Scientists uncover how Alzheimer's may quietly begin years before memory loss appears
A new Columbia study has found clues of Alzheimer's beginnings, revealing how tau filaments—protein clumps that are closely linked to memory decline in Alzheimer's disease—get their start. The finding raises the prospect ...
May 29, 2026
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Researchers uncover a substantial genetic component to postpartum psychosis
Researchers at the Icahn School of Medicine at Mount Sinai have uncovered a substantial genetic component to postpartum psychosis, a rare but severe psychiatric illness that occurs in the days to weeks after childbirth. The ...
May 29, 2026
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RNA therapy for genetic heart failure moves closer to patients after lab gains
Using patient-derived cardiac tissue and stem cell-based models, the team of translational researchers demonstrated that targeting the genetic cause of disease improved cellular abnormalities and identified the biological ...
May 29, 2026
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Rare DNA variants reveal new metabolic links in one of the largest analyses yet
Led by University of Tartu researchers, the largest and most comprehensive study to date has been completed on how genetic differences between individuals influence metabolism. Published in Nature, the study provides a far ...
May 28, 2026
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Brain aging reveals rising transposon RNAs, with distinct shifts in Huntington's and Parkinson's
Transposable elements (TEs), also called transposons, are DNA sequences capable of moving or replicating from one location to another within a genome. While TEs are the most significant fraction of the human genome (approximately ...
May 28, 2026
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Extreme trait values may trace to rare genes with outsized effects, analysis suggests
Researchers at the Icahn School of Medicine at Mount Sinai have found evidence that people who fall at the extreme high or low ends of certain traits, such as cholesterol, blood glucose, height, and age at menopause, are ...
May 27, 2026
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Schwann cells may trigger NF1 pain before tumors appear, mouse study suggests
Researchers at Cincinnati Children's have identified a potential new way to relieve chronic pain linked to neurofibromatosis type 1 (NF1), a genetic condition best known for causing tumors to grow along nerves. The new findings ...
May 27, 2026
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New genetic map of the human eye reveals clues to vision loss
An international team led by University of Manchester scientists has created the most detailed picture yet of how genetic differences shape the way the human eye works. The breakthrough could help explain why millions of ...
May 26, 2026
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AI model links tumor mutations to treatment response
Researchers at University of California San Diego have developed a new artificial intelligence (AI) model that can translate a tumor's complex genetic profile into predictions about how that cancer may respond to treatment. ...
May 26, 2026
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