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Clinical genetics news
False alarm in newborn screening: How zebrafish can prevent unnecessary spinal muscular atrophy therapies
A positive newborn screening for spinal muscular atrophy (SMA) is currently considered a medical emergency. Without early treatment, severe disability or death in infancy are likely. However, research findings from Germany ...
8 hours ago
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Men lose their Y chromosome as they age: Scientists thought it didn't matter—but now we're learning more
Men tend to lose the Y chromosome from their cells as they age. But because the Y bears few genes other than for male determination, it was thought this loss would not affect health. But evidence has mounted over the past ...
7 hours ago
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What telehealth changes for adult survivors of childhood cancers: More genetic testing, earlier screening options
Adult survivors of childhood cancers are at higher risk for another cancer—such as breast, colorectal, sarcomas and thyroid cancer—that is not a relapse of their original illness. Previous cancer therapies are largely ...
4 hours ago
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Cell and gene therapy across 35 years—a bibliometric analysis of global advances
Cell and gene therapies, or CGT, have come a long way since they were first introduced. In the last few decades, both cell therapy—the transplantation of living cells—and gene therapy—the use of genetic material to ...
12 hours ago
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Mapping the role of a master regulator in early brain development
New findings from Karolinska Institutet reveal how the gene HNRNPU coordinates several fundamental molecular processes during the earliest stages of human brain development. The study is published in Nucleic Acids Research ...
Feb 12, 2026
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AI-built maps reveal causal gene regulation across Alzheimer's brain cell types
Researchers led by Min Zhang and Dabao Zhang of the University of California, Irvine's Joe C. Wen School of Population & Public Health have created the most detailed maps to date showing how genes causally regulate one another ...
Feb 12, 2026
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Which childhood abuse survivors are at elevated risk of depression? New study provides important clues
Scientists have identified a pattern of gene activity present in some female survivors of childhood abuse that is associated with an elevated risk of depression.
Feb 12, 2026
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Genetic risk may rival obesity as a key driver of endometrial cancer
A major new study has found genetics play a powerful and independent role in endometrial cancer risk—challenging the long-held belief that obesity is the primary driver. The findings could lead to better screening of the ...
Feb 12, 2026
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Why asthma risk differs by sex: Study links early-life exposures to lung gene networks
A new study has confirmed that male and female lungs are "wired differently" at the molecular level, providing further evidence supporting sex-inclusive respiratory disease research and treatment. The work is published in ...
Feb 12, 2026
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Studies test whether gene-editing can fix high cholesterol. For now, take your medicine
Scientists are testing an entirely new way to fight heart disease: a gene-editing treatment that might offer a one-time fix for high cholesterol.
Feb 11, 2026
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Bicuspid aortic valve is caused by variation in numerous genes active in neonatal development of human heart
Bicuspid aortic valve (BAV) is a common congenital heart defect where the aortic valve has two leaflets (cusps) instead of the usual three, resulting in abnormal blood flow and development of aortic valve diseases such as ...
Feb 11, 2026
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Growth of spreading pancreatic cancer is fueled by 'underappreciated' epigenetic changes, shows study
In a lab-grown cell study focused on potential new treatment targets for halting the spread of most pancreatic cancers, Johns Hopkins Medicine scientists report they have found that a gene called KLF5 (Krueppel-like factor ...
Feb 10, 2026
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From bench to bedside—research in mice leads to answers for undiagnosed human neurodevelopmental conditions
Nearly 30 years ago, researchers began studying the gene Astn1, which encodes the cell adhesion protein astrotactin 1 in mice, and its role in brain development. During this time, they learned a great deal about the function ...
Feb 10, 2026
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Genetic link between type 2 diabetes and high blood pressure uncovered
Type 2 diabetes and high blood pressure share a genetic link, according to new research from the University of Surrey, U.K., and the Université de Lille, France. In a large-scale study, scientists examined genetic data linked ...
Feb 10, 2026
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Discovery of unique brain tumor subtypes offers hope for targeted glioma therapies
Researchers have uncovered the mechanisms behind three unique subtypes of mismatch repair deficient high-grade gliomas. The findings provide a clearer understanding of how these tumors develop, explain why patients respond ...
Feb 10, 2026
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Genetic link to Barrett's esophagus discovered, offering new hope for esophageal cancer patients
Case Western Reserve University researchers have made a significant breakthrough in understanding Barrett's esophagus, a precancerous condition that dramatically increases the risk of developing esophageal adenocarcinoma, ...
Feb 10, 2026
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Polarized-light imaging shows potential for distinguishing Ehlers–Danlos subtypes
Ehlers–Danlos syndromes (EDS) are inherited conditions that affect the body's connective tissue, which provides strength and support to the skin, joints, and blood vessels. People with EDS are often affected by stretchy ...
Feb 10, 2026
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Researchers identify genetic variants and patterns associated with hypermobile Ehlers–Danlos syndrome
Hypermobile Ehlers-Danlos syndrome (hEDS) is one of the most common heritable connective tissue disorders. Early estimates have reported that this genetic disorder affects at least one in 5,000 individuals, and more recently ...
Feb 10, 2026
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Clinical trial explores whether a genetic test can improve early detection of prostate cancer
A genetic test developed by researchers at Broad Clinical Labs and the U.S. Department of Veterans Affairs (VA) is now enabling a large, nationwide clinical trial aimed at improving health care for men at increased risk of ...
Feb 9, 2026
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Eye cancer genes predetermine liver metastasis, study finds
Cells from cancerous tumors can spread, or metastasize, throughout the body. Researchers have long sought to understand what determines where those cells will go and thrive in order to more effectively treat the cancer and ...
Feb 9, 2026
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Review of 40 years of genetics suggests dyslexia involves broader brain networks
A University of Houston psychology professor is challenging the notion that dyslexia, or specific reading disorder, stems from a single faulty gene in the brain, suggesting instead that it is caused by an overall brain network ...
Feb 8, 2026
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Why Huntington's proteins pile up: Two key tags guide their disposal
There is no known cure for Huntington's disease. A genetic mutation creates harmful proteins that accumulate and cause the disease's typical symptoms. A team from the Department of Human Genetics at Ruhr University Bochum, ...
Feb 8, 2026
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i-DNA 'peek-a-boo structures' form in living cells and regulate genes linked to cancer
DNA's iconic double helix does more than "just" store genetic information. Under certain conditions, it can temporarily fold into unusual shapes. Researchers at Umeå University, Sweden, have now shown that one such structure, ...
Feb 7, 2026
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Haemochromatosis: The iron overload condition that too often goes undiagnosed
When we think about iron imbalance, most people are familiar with iron deficiency and the health problems it can cause. What many may not realize is that the opposite problem, iron overload, can be just as serious—yet many ...
Feb 7, 2026
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What a new twins study reveals about genes, environment and longevity
Why do some people live to 100 while their sibling dies decades earlier? Is it luck, lifestyle, or something written into their DNA? Relative to many other species, humans are particularly long-lived, but there is an ongoing ...
Feb 7, 2026
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