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Clinical genetics news
Cold skin, hot heart, one gene: Hidden temperature switch decides where disease appears
The saying "cold hands, warm heart" is usually meant metaphorically—but new research from UC Davis School of Medicine and collaborating institutions suggests it has a striking biological parallel.
May 2, 2026
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Cell-by-cell analysis uncovers 345 risk genes across six neuropsychiatric disorders
The emergence of neuropsychiatric disorders, conditions that affect various brain functions and behaviors, is known to be driven by an intricate combination of factors. These can include both a genetic predisposition and ...
May 1, 2026
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A gene that keeps intestinal stem cells stable offers insight into how tissues repair themselves
Years before he conducted the research that would earn him a Nobel Prize in Physiology and Medicine, Shinya Yamanaka, MD, Ph.D., was a postdoctoral scientist at Gladstone Institutes, studying genes. There, he helped discover ...
Apr 30, 2026
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Genetic discovery may explain why pancreatic cancer is so difficult to treat
Pancreatic cancer can remain quiet for years, developing undetected before causing symptoms that lead to a diagnosis. Even after a surgeon removes a pancreas tumor, other cells often hide and erupt later. But University of ...
Apr 30, 2026
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Predicting genetic risk for type 1 diabetes just got more accurate thanks to machine learning study
In people with type 1 diabetes (T1D), the immune system shuts down the body's ability to make the hormone insulin, responsible for regulating blood sugar and providing cells with glucose to produce energy. As a result, they ...
Apr 30, 2026
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A study in 1.4 million women expands knowledge on endometriosis and its biological complexity
Endometriosis, a chronic inflammatory disease that affects approximately one in ten women of reproductive age—around 190 million worldwide—remains poorly understood from a biological perspective, which has historically hindered ...
Apr 30, 2026
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Validation study reveals new tool can predict patients' genetic risk of 8 cardiovascular conditions
Researchers at Mass General Brigham Heart and Vascular Institute and collaborators have developed and validated a new genetic risk test that can estimate a person's inherited risk for eight common cardiovascular conditions, ...
Apr 29, 2026
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Common genetic marker may guide new treatment for acute leukemia
A genetic alteration that is already routinely analyzed in patients with acute myeloid leukemia can be used to identify patients who respond to a new targeted therapy, according to a study published in the journal Discover ...
Apr 29, 2026
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A banned chemical still lingers, and its strangest effect may depend on sex, genes and one common vitamin
In two new studies, researchers at the UC Davis MIND Institute have clarified how a long-banned group of chemicals, called polychlorinated biphenyls (PCBs), affect genetic activity. The research helps explain how biological ...
Apr 28, 2026
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Cancer cells can rewrite RNA messages, creating new drug targets in aggressive tumors
Scientists have uncovered an unexpected way cells can generate cancer-driving proteins—by cutting RNA into shorter, functional fragments rather than following the standard blueprint. This process, newly termed as "RNA dicing," ...
Apr 28, 2026
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Macaques reveal human-like genetic cause of inherited blindness, offering new disease model
An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in rhesus macaques at the California National Primate Research Center at the University of California, ...
Apr 28, 2026
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Fluorescent quail embryos could help solve serious birth defects in humans
The quail is a small, unassuming bird that glides rather than flies and prefers to hide under bushes than to perch on top of a tree. And now, it's also helping scientists understand serious birth defects in humans.
Apr 28, 2026
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Researchers identify how the Dicer enzyme affects infertility and cancer progression
Activation of a specific part of the Dicer enzyme can change its shape in a way that affects its critical role in proper cell division, with implications for both cancer biology and fertility, according to researchers at ...
Apr 28, 2026
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Study identifies new treatment targets for vascular dementia
A new study led by researchers at UNSW Sydney's Center for Healthy Brain Aging (CHeBA) has identified potential biological targets that could help guide future research into treatments for vascular dementia—a common and serious ...
Apr 28, 2026
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Tapping your genome with AI and quantum computing could deliver on the promise of personalized medicine
Decades after researchers first sequenced the human genome, scientists throughout the world are still working to understand it. Despite diligent global efforts to link uncommon variations in DNA sequences with human disease, ...
Apr 28, 2026
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Rare bone disease mutation linked to kidney failure pathway, mouse study shows
Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure. Using a mouse model, they ...
Apr 27, 2026
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Antisense oligonucleotide strategy reverses HNRNPH2-related neurodevelopmental disorder
Scientists at St. Jude Children's Research Hospital have found that they can reverse the effects of HNRNPH2-related neurodevelopmental disorder using antisense oligonucleotides (ASOs) in preclinical models. ASOs are short ...
Apr 26, 2026
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Postmenopausal white women with genetic risk regain weight two times faster
In a new study of women in post-menopause, white women with higher genetic risk of obesity regained weight about two times faster than white women whose genetic risk was lower. Black women in the study regained weight at ...
Apr 25, 2026
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Gene therapy targets untreatable cystic fibrosis mutation affecting about 10% of patients
Cystic fibrosis is among the most common, known and studied genetic diseases. It affects over 100,000 people worldwide and reduces life expectancy mainly as it causes lung and respiratory problems. Over the years, scientific ...
Apr 24, 2026
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Epigenome map reveals how blood sugar-regulating cells change in type 2 diabetes
Researchers at Lund University in Sweden have carried out the most detailed mapping to date of the epigenome in the cells that regulate the body's blood sugar levels. The study, published in Nature Metabolism, shows how chemical ...
Apr 24, 2026
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Genetic study reveals likely cause of common heart valve defect
New clues from genetic research may help explain what causes the most common heart defect present at birth. Researchers at KTH Royal Institute of Technology and Karolinska Institutet have identified rare DNA changes during ...
Apr 24, 2026
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Vitamin D may help prevent diabetes, depending on genes
More than two in five U.S. adults have prediabetes, a condition marked by higher-than-normal blood sugar levels that often leads to type 2 diabetes. A new study finds that vitamin D may help delay or prevent that progression, ...
Apr 23, 2026
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Gene-screen strategy separates Parkinson's promoters from protectors, revealing new drug targets
A novel strategy that combines computational and experimental approaches has allowed researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital to distinguish ...
Apr 23, 2026
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3D DNA switch in brown fat could reshape obesity and diabetes treatment
Most fat stores energy; the body's brown fat does the opposite. Unlike the white fat that accumulates just under our skin, brown fat burns calories and glucose to generate heat. Formally known as brown adipose tissue, it ...
Apr 23, 2026
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Astrocytes reveal fragile X pathway tied to seizures and synapse problems
Fragile X syndrome (FXS) is an inherited genetic developmental condition that strongly impacts brain development. Despite the syndrome stemming from an altered genetic code for the single protein fragile X messenger ribonucleoprotein ...
Apr 23, 2026
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