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Clinical genetics news
Genetic study links IBS to lipid metabolism and triglyceride regulation
Irritable bowel syndrome (IBS) is a common condition that affects more than 10% of the general population, causing recurrent abdominal pain, bloating, constipation and diarrhea. IBS is considered a disorder of gut-brain interaction, ...
5 hours ago
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New approach to gene correction for iron storage disease
Hereditary primary hemochromatosis is caused by a single faulty building block in a gene. This leads to iron overload, which can have serious consequences for organs and joints. In preclinical studies, researchers have already ...
16 hours ago
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Liver-directed gene therapy shows preclinical efficacy for severe inherited metabolic disorder
Genespire, in collaboration with researchers at the San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), announced the publication of preclinical data supporting the potential of its liver-directed immune-shielded ...
17 hours ago
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A long‑standing mystery in the deadliest breast cancer just yielded 81 new treatment targets
Researchers have solved a long-standing mystery of how abnormal chromosomes drive cancer, identifying 81 new genes involved in aggressive breast cancer. The discovery expands understanding of the cellular processes behind ...
Jul 8, 2026
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Genetic insights into a fluid-related brain condition in newborns
Early detection and treatment of congenital cerebral ventriculomegaly (CCV)—when a fetus's fluid-filled brain ventricles swell due to a condition called hydrocephalus—can help clinicians prevent developmental or neurological ...
Jul 8, 2026
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New platform combines precision gene targeting with brain-wide delivery
A new study describes a gene therapy strategy that uses the brain's own glymphatic transport system to distribute engineered viral vectors throughout the brain. The approach addresses two major challenges in neurological ...
Jul 8, 2026
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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, ...
Jul 7, 2026
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Gene clues reveal why some rare leukemia patients resist tagraxofusp therapy
Researchers at The University of Texas MD Anderson Cancer Center have identified why some patients with a rare type of leukemia, called blastic plasmacytoid dendritic cell neoplasm (BPDCN), eventually develop resistance to ...
Jul 7, 2026
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Why does Parkinson's disease affect more men than women?
New research presented at the Federation of European Neuroscience Societies (FENS) Forum 2026 has discovered some of the genetic changes in brain cells that may help explain why more men than women develop Parkinson's disease.
Jul 7, 2026
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Researchers chart a genetic path to diagnosing pulmonary fibrosis and predicting outcomes
Researchers have validated a genetic scoring tool that may help physicians diagnose idiopathic pulmonary fibrosis and identify which patients are at greatest risk for severe outcomes, including death or the need for a lung ...
Jul 7, 2026
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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. ...
Jul 7, 2026
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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 ...
Jul 6, 2026
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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 ...
Jul 6, 2026
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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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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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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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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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