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Clinical genetics news
New heart disease mechanism revealed: Next-generation targeted therapy shows benefit across mutation types
A study led by the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC), working in collaboration with an international research team, has identified a new molecular mechanism involved in hypertrophic cardiomyopathy, ...
6 hours ago
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1 in 5 relatives of breast and ovarian cancer patients in Estonia carry dangerous cancer-linked genes, study shows
In 2013, Angelina Jolie inspired a wave of testing for pathogenic variants of the gene BRCA1 by announcing that she carried a variant that left her at such high risk of breast cancer that she chose a preventive mastectomy. ...
11 hours ago
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Fibronectin pathway may drive Marfan aortic damage, opening new drug targets
A new study published in Nature Communications identifies a molecular signaling pathway that contributes to the development of life-threatening aortic aneurysms and dissections in Marfan syndrome, a genetic disorder affecting ...
20 hours ago
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AI tool can identify biological profiles associated with thrombosis risk
Two people may be the same age and have similar family histories or risk factors, yet only one of them may develop thrombosis. To better understand why this occurs, researchers from the Complex Disease Genomics Unit at the ...
18 hours ago
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Genetic information helps predict the onset and progression of glaucoma
Glaucoma is the leading cause of irreversible visual impairment worldwide. Because the disease often progresses without symptoms for years, many patients are diagnosed only after permanent damage to the optic nerve has already ...
Jul 5, 2026
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Survey suggests Europeans support state-funded fertility care and embryo research across 4 countries
A new Europe-wide survey launched during the 42nd Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE) suggests broad public support for fertility treatment and several areas of reproductive ...
Jul 4, 2026
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New tumor map identifies high-risk B-cell lymphoma standard therapy may miss
Researchers led by Universitätsmedizin Frankfurt and Goethe University Frankfurt have identified how particularly aggressive forms of lymphoma can be recognized. By combining genetic and proteomic analyses, the scientists ...
Jul 3, 2026
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Two prostate cancer mutations reveal opposite responses to ferroptosis therapy
A new study by researchers at The University of Texas MD Anderson Cancer Center has identified genetic factors that determine whether prostate cancers are susceptible to a type of cell death known as ferroptosis. These findings, ...
Jul 2, 2026
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National rare disease registry may improve care for patients
In Sweden, more than 500,000 individuals live with a rare condition. Globally, approximately 7,000 distinct rare diseases have been identified, the majority of which have a genetic etiology. Expertise regarding these diagnoses ...
Jul 2, 2026
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Genetic testing changes care for pulmonary fibrosis patients
A new Mayo Clinic study shows that integrating telomere length evaluation and genetic testing into pulmonary care can significantly change how physicians diagnose and treat pulmonary fibrosis—in some cases even redirecting ...
Jul 2, 2026
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Rare muscle disorder mutations reveal a precision medicine strategy
Scientists at the University of California San Diego have uncovered how genetic mutations cause a rare group of inherited neuromuscular disorders and identified promising new strategies to correct them, including a potential ...
Jul 1, 2026
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Genetic differences affecting toddler activity levels are also associated with ADHD
A toddler's activity levels are influenced by genetic differences, with some of the same genetic markers also linked to attention-deficit/hyperactivity disorder (ADHD), according to new research from the University of Surrey. ...
Jul 1, 2026
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Faulty calcium signaling may drive dry mouth in Down syndrome, raising gum disease risk
Researchers at NYU College of Dentistry have uncovered what may be biologically driving oral health issues unique to Down syndrome. Their study, published in Cell Reports, describes a molecular mechanism—a defect in calcium ...
Jul 1, 2026
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One gene, two diseases: Study reveals opposing dementia and cancer risks
Researchers at the University of Kentucky Sanders-Brown Center on Aging have uncovered evidence that a single genetic variant may influence the risk of two of the diseases people fear most—dementia and cancer—but in opposite ...
Jul 1, 2026
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Investigators report promising results from Phase II trial of targeted therapy for rare bile duct cancer
Results of the ongoing eNRGy trial, a single-arm, multicenter, global Phase II clinical trial evaluating zenocutuzumab in solid tumors positive for Neuregulin 1 (NRG1) gene fusions, reported manageable side effects and clinically ...
Jul 1, 2026
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Rare aging disorder links 'biological clock' to disease
Scientists have discovered a rare genetic condition that causes people to age at a much faster rate, offering fresh insights into the aging process. The study shows for the first time how a "biological clock" present in every ...
Jun 30, 2026
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Uncovering gene-based clues to how disrupted healing in stomach cells increases cancer risk
Few areas of the body face more daily stress and potential damage than the stomach, which must manage everything we swallow. Along with this constant strain, the stomach also produces acid that can damage its own lining and ...
Jun 30, 2026
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New postnatal gene therapy offers hope for congenital hearing loss
Hereditary hearing loss affects millions globally, with mutations in the SLC26A4 gene among the most common genetic triggers, particularly across Asian populations. This condition leads to severe-to-profound deafness accompanied ...
Jun 30, 2026
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African genetic data could change how essential medicines are prescribed
The dosage information for drugs used in HIV treatment, malaria, cancer care, pain management and transplantation is largely based on data from European patients and fails to include vital information about how essential ...
Jun 30, 2026
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Gene discovery could help prevent stroke in young people
UVA Health stroke researchers have identified a distinct and temporary pattern of gene behavior during cervical artery dissections, a leading cause of stroke in young people. These unusual gene changes may help explain the ...
Jun 30, 2026
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Inherited BRCA2 changes could drive some multiple lung cancers, genomic analysis suggests
Lung cancer remains the leading cause of cancer-related deaths worldwide and is generally thought to arise from mutations acquired over a lifetime through environmental exposures. However, clinicians are increasingly encountering ...
Jun 30, 2026
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Genetic test ranks risk for Black people hoping to donate a kidney
New evidence supports genetic testing of prospective Black kidney donors to see if they face elevated risks for low kidney function—a factor that could compound health issues if they donate.
Jun 30, 2026
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Eating disorders and obsessive-compulsive disorder show shared brain gene expression changes
Researchers at the Icahn School of Medicine at Mount Sinai and the Lieber Institute for Brain Development have identified substantial similarities in brain gene activity among people with eating disorders and obsessive-compulsive ...
Jun 29, 2026
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Large multiple sclerosis brain cohort reveals biological differences linked to disease severity
Why does multiple sclerosis progress quickly in some people, while others remain stable for years? Researchers from the Netherlands Institute for Neuroscience have identified biological patterns in the brain that may help ...
Jun 29, 2026
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Thirty years later: A reappraisal of Alzheimer's disease risk in Japanese APOE-e4 homozygotes
Researchers at Niigata University have conducted the first comprehensive reappraisal in nearly 30 years of the risk of Alzheimer's disease (AD) associated with APOE-e4 homozygosity (e4*4) in the Japanese population. Their ...
Jun 29, 2026
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