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Clinical genetics news
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," ...
3 hours ago
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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.
5 hours ago
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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, ...
4 hours ago
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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 ...
4 hours ago
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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 ...
3 hours ago
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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 ...
12 hours ago
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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, ...
8 hours ago
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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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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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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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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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Genetic test forecasts chemo response in breast cancer
A new study from Karolinska Institutet shows that gene analysis of breast cancer tumors can identify patients who do not benefit from chemotherapy given before surgery. The findings, published in the journal Nature Communications, ...
Apr 23, 2026
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Unraveling the evolution of leukemia in children with Down syndrome
It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome.
Apr 23, 2026
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Genetic clues in 3,000 Indians reveal new lipid routes to cardiometabolic disease
A study conducted in an Indian population has identified new molecular pathways that contribute to cardiovascular disease, which had not been reported previously in studies of Europeans. Dharambir Sanghera of the University ...
Apr 23, 2026
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Uncovering hidden genetic risks for early-onset and familial colorectal cancer
Researchers and clinicians from National Taiwan University (NTU) and NTU Hospital have compiled the first large-scale genetic database for colorectal cancer (CRC) in Taiwan. This initiative identified inherited genetic abnormalities ...
Apr 23, 2026
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Novel tool more accurately predicts risk of Li-Fraumeni syndrome
In a prospective validation study, researchers at The University of Texas MD Anderson Cancer Center have demonstrated that a new mathematical model called LFSPRO was effective in supporting genetic counselor decision-making ...
Apr 23, 2026
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A hidden DNA region helps drive frailty, exposing brain and immune links that reshape aging risk
Researchers at McMaster University have identified, for the first time, a novel region of DNA and two associated genes connected to frailty, offering neurological and immune-related insights that might help explain why some ...
Apr 22, 2026
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Study explores the genetic basis of an encephalopathy associated with epilepsy and autism
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It arises from mutations in the SYNGAP1 gene, which ...
Apr 22, 2026
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Unexpected cancer mutations in brain's immune cells may help fuel Alzheimer's disease
As the body ages, cells naturally accumulate dozens of genetic mutations each year. New research from Boston Children's Hospital, published in Cell, finds that the brain's resident immune cells, microglia, amass mutations ...
Apr 21, 2026
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