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Clinical genetics news
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 ...
7 hours ago
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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 ...
19 hours ago
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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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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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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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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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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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Genetically lower systolic BP linked to increased risk of allergic rhinitis
Genetically predicted lower systolic blood pressure (SBP) seems to increase susceptibility to allergic rhinitis (AR), according to a study published online May 29 in Tobacco Induced Diseases.
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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Reproduction affects health—and so does biological sex
Starting one's sex life and having children at a young age can run in the family. But can pregnancy have beneficial health effects, and do the partner's genes contribute to them? "We are just beginning to understand how pregnancy ...
Jun 28, 2026
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New tool helps uncover rare genetic mutations in common diseases, including Parkinson's
Studies of genetics conducted in yeast cells, human neurons, mice or other model systems often reveal networks of genes that could contribute to complex diseases, such as breast cancer, type 2 diabetes and Parkinson's disease. ...
Jun 26, 2026
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First use of precision editing to study human embryo development reveals role of master gene
Research led by the University of Cambridge Loke Center for Trophoblast Research has shown that a genome-editing technique can be used to alter a single gene in human embryonic cells, enabling the study of very early human ...
Jun 25, 2026
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Genomic tool highly effective at detecting rare disease diagnoses
A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool's ability to frequently and automatically reexamine stored DNA data ...
Jun 24, 2026
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What a 'silenced' chromosome can tell us about autoimmunity
Systemic lupus erythematosus (SLE), the most common form of lupus, is an autoimmune disorder that occurs more frequently in women. Having multiple X chromosomes has been associated with an increased risk of developing lupus; ...
Jun 24, 2026
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