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Clinical genetics news
Targeting protein synthesis control regions may reduce seizures in genetic epilepsy
Targeting the control of protein synthesis in the KCNQ2 gene may serve as a potential disease-modifying strategy for patients with a genetic form of neonatal-onset epilepsy and impaired brain development, according to a Northwestern ...
14 hours ago
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Scientists identify genes that could reduce APOE4 Alzheimer's disease risk
An international team of researchers led by Michael E. Belloy, Ph.D., an assistant professor of neurology and psychiatry at WashU Medicine, identified key genetic targets for developing potential Alzheimer's disease therapeutics. ...
9 hours ago
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Poor diet may worsen genetic causes of male infertility, study finds
Lifestyle factors can worsen the effects of genetic causes of male infertility, finds new research that could help explain why men carrying similar genetic mutations often experience different levels of fertility impairment.
9 hours ago
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Clues to longevity may reside in the genomes of long-lived bats
The secret to a long life may lie in the genomes of the longest-lived mammals for their size: bats. That idea captivated Juan Manuel Vazquez when he was a graduate student at the University of Chicago, but at the time he ...
Aug 30, 2026
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Next-generation RNA approach provides hope for genetic diseases missed by current drugs
Researchers at the University of Toronto have developed a next-generation RNA therapeutic approach with the potential to treat a wide range of genetic diseases that share certain disease-causing mutations. The work advances ...
Aug 27, 2026
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Largest ever molecular map of autism opens new paths to precision therapies
For more than two decades, researchers have identified hundreds of genes that increase the risk of autism spectrum disorder (ASD). Yet multiple fundamental questions have remained unanswered: Among them, how do mutations ...
Aug 27, 2026
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Unexpected discovery reveals mechanism behind brain tumor development
When researchers at Lund University investigated how UM171, a molecule used to make blood stem cells multiply, works, they made an unexpected connection. The results provide new insights into how one of the most common malignant ...
Aug 27, 2026
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More accurate risk assessment developed for Alzheimer's disease among nonwhite patients
Late-onset Alzheimer's disease (AD) is a progressive disorder characterized by cognitive decline and memory impairment, affecting an estimated 6.9 million people in the U.S. The clinical course of AD unfolds over many years, ...
Aug 27, 2026
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Primate-specific DNA change reveals a new link to dementia-related neurodegeneration
Brain diseases, including dementia, have long been studied using experimental animals such as mice. However, differences between the human and animal genomes have raised concerns that some disease mechanisms may not be fully ...
Aug 27, 2026
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Children of centenarians often live longer and face lower cardiovascular risks, analysis finds
Adults with at least one parent who reached age 100 lived longer and had substantially lower risks of cardiovascular disease and hypertension than people whose parents had shorter lifespans, according to a study published ...
Aug 26, 2026
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Stress gene 'stuck on' in the brains of people with schizophrenia, study finds
Experts at the University of Sydney have found that a gene involved in regulating the body's response to stress switches on more easily in the brains of people who live with schizophrenia.
Aug 26, 2026
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People say they would not want to test embryos for traits like low IQ. But if given the information, they act on it
A study of more than 2,000 people in the United States and China finds that the line between medical and nonmedical traits, which underpins rules on embryo testing in most countries, does not match public preferences.
Aug 26, 2026
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How DNA folding controls immune gene activity in T cells
A new study by researchers at the Perelman School of Medicine at the University of Pennsylvania reveals that the three-dimensional folding of DNA at a key genetic locus helps determine when two related immune genes, Ets1 ...
Aug 26, 2026
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Inherited genetic variants help identify patients at higher risk of aggressive therapy-related blood cancers
Some patients develop aggressive blood cancers years after receiving chemotherapy or radiotherapy for a previous cancer. These conditions, known as therapy-related myeloid neoplasms (t-MN), are currently classified mainly ...
Aug 26, 2026
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First-in-human pilot trial improves stem cell collection and delivery for sickle cell gene therapy
Patients with sickle cell disease are often hesitant to undergo transformative gene therapy—the current lengthy process requires multiple hospital visits to collect enough stem cells. Researchers from Boston Children's Hospital ...
Aug 25, 2026
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Abnormal differentiation of fetal neural progenitor cells causes autistic-like behavior in mice
Autism spectrum disorder is a developmental disorder characterized by difficulties with social interaction, restricted interests and repetitive behaviors. It has attracted significant attention because of its high prevalence, ...
Aug 25, 2026
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Turning up protein production: A new genetic approach to polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney failure. Despite decades of research, treatment options for the disease remain limited, and many patients ultimately require ...
Aug 25, 2026
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New clues to the genetic roots of hair-pulling and skin-picking
Two disorders with big names—trichotillomania (repeated hair-pulling) and excoriation disorder (repeated skin-picking)—were the focus of a recent Yale study looking at potential genetic causes. The two disorders are part ...
Aug 25, 2026
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A single genetic test can uncover causes of previously unexplained premature ovarian insufficiency
Premature ovarian insufficiency affects up to 3.5% of women and is an important cause of female infertility. However, in most cases, the underlying cause remains unknown. A recent study by researchers at the University of ...
Aug 25, 2026
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Spatial atlas reveals how ovarian clear cell tumors vary from core to edge
Ovarian clear cell carcinoma (OCCC) has a higher prevalence among East Asian women and is characterized by poor clinical outcomes. An interdisciplinary team led by Professor Ruby Yun-Ju Huang at National Taiwan University ...
Aug 24, 2026
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Previously missed DNA mutation pattern in colorectal cancer identified
Researchers from the University of California San Diego and collaborators have identified a previously overlooked pattern of DNA mutations in colorectal cancer. Scientists use these patterns, known as mutational signatures, ...
Aug 22, 2026
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Younger adults with lung cancer more likely to have targetable genetic changes, study finds
Younger adults with non-small cell lung cancer are significantly more likely than older patients to have genetic alterations that can be matched with targeted therapies, according to a large international study led in part ...
Aug 21, 2026
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A unified framework to explain one of cancer's major drivers
In a rare pair of papers published back-to-back in the journal Genes & Development, research teams led by senior author Anindya Bagchi, Ph.D., associate professor in the Cancer Genome and Epigenetics Program at Sanford Burnham ...
Aug 20, 2026
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AI-guided screening identifies nine drugs that may slow childhood dementia
An Australian research collaboration has identified several existing TGA-approved medicines that could help slow brain damage in children with a rare form of dementia—offering hope for faster treatment options.
Aug 20, 2026
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Single gene injection reverses inherited heart disease in mice and patient-grown tissue
Melbourne researchers have made a gene therapy breakthrough that could restore heart function in children with genetic heart disease, sparing them the need for transplants.
Aug 19, 2026
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