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Clinical genetics news
High-altitude survival gene may help reverse nerve damage
A genetic mutation that helps animals like yaks and Tibetan antelopes survive at high altitudes may hold the key to repairing nerve damage in conditions such as cerebral paralysis and multiple sclerosis (MS). The finding, ...
Mar 13, 2026
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First-of-its-kind analysis reveals the structural variant landscape driving pediatric cancer development
The first and largest dataset of genomic structure variations specific to childhood cancers was published today by scientists from St. Jude Children's Research Hospital and the National Cancer Institute. The researchers assembled ...
Mar 12, 2026
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Major genetic risk factor for rare form of dementia identified
Researchers at VIB and Antwerp University have identified a major genetic risk factor for a rare form of frontotemporal dementia. The discovery, published today in Nature Genetics, provides a biological entry point for a ...
Mar 12, 2026
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Novel tool measures how cancer cells rewrite genetic instructions to aid growth and survival
Cancer is caused by faulty genes, but what also shapes a cancer cell's behavior is how a gene's instructions are trimmed and rearranged before they are turned into the proteins that keep a cell alive. A study published in ...
Mar 12, 2026
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Super‑agers' brains stay young into old age. New research brings us closer to understanding why
My grandmother Leontina, who recently turned 100, still lives independently and remembers the birthday of everybody in her village. She is enviably healthy, has a remarkably sharp memory, and is likely a prime example of ...
Mar 12, 2026
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New atlas maps aging brain epigenetic shifts across eight regions and 36 cell types
Neurodegenerative diseases affect more than 57 million people globally. The incidence of these diseases, from Alzheimer's to Parkinson's to ALS and beyond, is expected to double every 20 years. Though scientists know aging ...
Mar 11, 2026
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Updated testing protocol may improve kidney disease diagnosis in Black patients
A closer examination of the APOL1 gene in Black patients with kidney disease can provide more accurate diagnoses than current protocols, a new study from researchers at Columbia University Vagelos College of Physicians and ...
Mar 11, 2026
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Optical genome mapping detects additional genetic variants in nearly 20% of individuals with acute leukemia
New research assessing the efficacy of optical genome mapping (OGM) in a group of patients with acute leukemia has demonstrated that OGM provided reliable and robust analytical performance with high sensitivity and specificity ...
Mar 11, 2026
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Genetic testing plays role in identifying malignant hyperthermia risk
Genetic testing can play an important role in identifying patients at risk for malignant hyperthermia (MH), guided by answering three simple screening questions, according to an article published online March 10 in Anesthesiology.
Mar 11, 2026
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Study of 3 million Swedes links women's suicide risk to female relatives' attempts
A woman's suicide risk may be influenced by the suicidal intention of her female first degree relatives, with sex-specific effects of a shared familial environment and possibly other social factors having a key role, finds ...
Mar 10, 2026
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Study identifies gene linked to chemotherapy resistance in prostate cancer
A gene called FOXJ1 may drive resistance to taxane chemotherapy during treatment for advanced prostate cancer, according to a new study led by investigators at Weill Cornell Medicine and Beth Israel Deaconess Medical Center. ...
Mar 10, 2026
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Long-read genome sequencing uncovers new autism gene variants
Researchers at the University of California San Diego have identified new genetic variants associated with autism spectrum disorder (ASD) by using long-read whole genome sequencing (LR-WGS), an emerging approach that reads ...
Mar 9, 2026
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Study finds shared genetic roots of multiple sclerosis across diverse ancestries
A new study published in Neurology, led by Queen Mary University of London, has revealed that people of South Asian, African and European ancestry share many of the same genetic risk factors for multiple sclerosis (MS).
Mar 9, 2026
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'Asian flush' mutation may trigger ferroptosis during heart attacks, study reveals
About 40% of East Asians suffer from alcohol intolerance, known as "Asian Flush Syndrome," caused by an ALDH2 genetic mutation. Beyond facial flushing, this mutation carries serious cardiovascular risks. Carriers experience ...
Mar 9, 2026
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Why lungs age unevenly: Vulnerable cells may guide new therapies
Aging is associated with increased risk for nearly every lung disease, including acute conditions like pneumonia and chronic diseases like chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis, and lung cancer. ...
Mar 9, 2026
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FOXJ3 gene emerges as a potential driver of drug-resistant focal epilepsy
Researchers have discovered that mutations in the FOXJ3 gene act as a "master switch" failure, disrupting how the brain builds its layers and leading to FCD, a primary cause of drug-resistant epilepsy. The study, published ...
Mar 9, 2026
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Study reveals worrying extent of imprecise gene and gene mutation naming
A systematic review of 52 scientific papers submitted to a world-leading clinical genetics journal from multiple scientists over a two-year period reveals that not a single one named critical gene mutations (correctly termed ...
Mar 9, 2026
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Preventing breast cancer resistance to CDK4/6 inhibitors using genomic findings
Researchers at Memorial Sloan Kettering Cancer Center (MSK) have made an important discovery about how genetic mutations in breast cancer patients can interact and drive resistance to certain drugs called CDK4/6 inhibitors. ...
Mar 8, 2026
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Japan approves stem-cell treatment for Parkinson's in world first
Japan has approved ground-breaking stem-cell treatments for Parkinson's and severe heart failure, one of the manufacturers and media reports said Friday, with the therapies expected to reach patients within months.
Mar 6, 2026
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Consent and its discontents: UK Biobank projects may breach trust of thousands of participants
UK Biobank is a major biomedical database and research resource, holding the genetic, health, and lifestyle information of half a million adult volunteers. Its datasets are accessible to approved researchers from academic, ...
Mar 5, 2026
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mRNA therapy restores fertility in genetically infertile mice
Researchers have found that targeted delivery of messenger RNA (mRNA) can restore sperm production and fertility in genetically infertile male mice. The findings, published in Stem Cell Reports, demonstrate that transient ...
Mar 5, 2026
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Life-changing drug identified for children with rare epilepsy
A new experimental treatment for children with a hard-to-treat form of epilepsy is safe and can reduce seizures dramatically, helping them lead much healthier and happier lives, according to the findings of a UCL (University ...
Mar 4, 2026
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A promising potential therapeutic strategy for Rett syndrome
A team of researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital reports in Science Translational Medicine a potential new approach to treat Rett ...
Mar 4, 2026
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Key DNA changes in the brains of people with Alzheimer's disease identified
In a study published in Nature Communications, Mayo Clinic researchers have identified specific DNA-level changes in the brains of people with Alzheimer's disease (AD). Using advanced biological analysis, the team mapped ...
Mar 3, 2026
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New knowledge on heritability paves the way for better treatment of chronic inflammatory bowel disease
Approximately 60,000 Danes live with chronic inflammatory bowel disease. Some experience limited discomfort, while others go through a debilitating disease course involving surgery and a stoma. Add to this the fear of leaving ...
Mar 2, 2026
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