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Scientists discover how genetic mutations drive Weaver syndrome

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  • 2025-08-26 22:59 event
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Scientists discover how genetic mutations drive Weaver syndrome
Scientists have discovered how mutations in a specific gene drive the rare developmental disorder Weaver syndrome, which is marked by intellectual disability and overgrowth and predisposes people with the condition to cancer. Their work has additional relevance for a growing suite of related diseases and provides important insights that may one day lead to improved therapies.

1.571. Natural compound could help fight aggressive leukemia and amplify the effect of chemotherapy drugs

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Forskolin, a natural compound derived from a plant, could significantly improve treatment outcomes for an aggressive form of leukemia, known as KMT2A-rearranged Acute Myeloid Leukemia (KMT2A-r AML), according to a new study from the University of Surrey.

1.572. AI reveals how protein modifications link mutations to disease

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Researchers at Baylor College of Medicine have developed an artificial intelligence (AI) model that reveals how protein modifications link genetic mutations to disease. The method, called DeepMVP and published in Nature Methods, significantly outperforms previously published models and has implications for the development of novel therapeutics.

1.573. Key protein complex drives nerve cell death in Alzheimer's disease, study finds

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A molecular mechanism that significantly contributes to the progression of Alzheimer's disease has been discovered by a research team led by neurobiologist Prof. Dr. Hilmar Bading of Heidelberg University. Their study is published in the journal Molecular Psychiatry.

1.574. Early signs of Alzheimer's could soon be spotted through routine eye exams

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Within the next few years, doctors may be able to spot signs of Alzheimer's disease and other dementias using routine eye exams well before symptoms appear, a new study suggests.

1.575. Nicotine, cannabis, vaping, psychedelics surge in US

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The percentage of young and midlife adults using nicotine pouches significantly increased last year, while cannabis use, vaping and the use of psychedelic drugs are at or near all-time highs, according to the latest data from the University of Michigan's Monitoring the Future Panel survey.

1.576. Kiss goodbye to deadly disease—antibodies neutralize Chagas parasite, offering hope for vaccine

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Researchers have successfully produced antibodies that kill the parasite carried by the "kissing bug" that causes the potentially deadly Chagas disease. The research is a vital step toward the development of the first effective vaccine.

1.577. Adjusting drug timing can boost fertility, study suggests

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Researchers at Osaka Metropolitan University have found that changing the timing of fertility drugs to match the follicle maturity period significantly increases the number of ovulated oocytes—the cells that develop into eggs—during artificial fertilization, even in rats that typically produce few oocytes. The study was published in Heliyon.

1.578. Multi-omics AI model boosts preterm birth prediction accuracy to nearly 90%

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A recent study has developed a highly accurate risk prediction framework for preterm birth (PTB) that could broaden the potential of AI-driven multi-omics applications in precision obstetrics and biomedical research.

1.579. Distinct prefrontal pathways shown to separate reward motivation from threat reactivity

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University of Cambridge researchers report that inactivating dorsolateral prefrontal cortex area 46 in marmosets blunts appetitive motivation and heightens threat reactivity, with effects mediated through asymmetric left-hemisphere pathways.

1.580. Scientists discover how genetic mutations drive Weaver syndrome

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Scientists have discovered how mutations in a specific gene drive the rare developmental disorder Weaver syndrome, which is marked by intellectual disability and overgrowth and predisposes people with the condition to cancer. Their work has additional relevance for a growing suite of related diseases and provides important insights that may one day lead to improved therapies.

1.581. Scientists map primate ovarian reserve development, offering key insights into women's health

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UCLA scientists have developed the first comprehensive road map showing how the ovarian reserve forms in primates, providing crucial insights into women's health that could revolutionize treatments for infertility and hormonal disorders such as polycystic ovary syndrome, or PCOS.

1.582. Study finds type 2 diabetes blood factors drive breast cancer aggression

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People with type 2 obesity-driven diabetes tend to have more aggressive breast cancers, but no one knows exactly why. A new study by researchers at Boston University Chobanian & Avedisian School of Medicine and published in Communications Biology found that tiny particles in the blood, known as exosomes, which are altered by diabetes, can reprogram immune cells inside tumors, making them weaker and allowing the cancer to grow and spread more easily.

1.583. Americans prioritized preventing lockdown harms over COVID-19 deaths

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When asked to choose between bad outcomes from lockdowns, most Americans said they'd rather risk more COVID deaths than allow more child abuse, domestic violence or deaths caused by economic hardship.

1.584. Biomarker tools improved for children with Sturge-Weber syndrome

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A newly published review from the Kennedy Krieger Institute highlights major progress in developing biomarkers to improve the diagnosis and treatment of Sturge-Weber syndrome (SWS).

1.585. People with schizophrenia have higher risk of COPD, study says

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People with schizophrenia are more likely to develop chronic obstructive pulmonary disease (COPD), suggesting a possible syndemic relationship between the two diseases, in addition to people not seeking appropriate medical care. A new article examining the link between COPD and schizophrenia was published in the July 2025 issue of Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation.

1.586. Overweight older adults face lower risk of death after major surgery: Findings challenge current weight guidelines

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Older adults who are overweight may face a lower risk of death in the first 30 days following major elective surgery compared with those who have a normal body mass index (BMI), new research suggests.

1.587. Mouse neurons that identify friends in need and friends indeed

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A special set of neurons directs mice's attention to or away from their peers, depending on the situation. The Kobe University discovery has implications for finding causes for neuropsychiatric conditions such as autism spectrum disorder or schizophrenia.

1.588. Parental liver disease death more than doubles risk of alcohol-associated hepatitis in next generation

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Research scientists from the Indiana University School of Medicine and Regenstrief Institute have found that individuals with a parent who died from liver disease face more than double the risk of developing alcohol-associated hepatitis, one of the deadliest forms of alcohol-related liver disease, compared with similar heavy drinkers without that family history. The study is published in the journal Hepatology Communications.

1.589. Medicinal cannabis is most often prescribed for pain, anxiety and sleep—here's what the evidence says

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Medicinal cannabis use has increased rapidly in recent years in Australia. Since access pathways were expanded in 2016, more than 700,000 prescription approvals have been issued.

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