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Clinical genetics news
Death of girl in Chinese gene-editing trial kept secret: Report
A 6-year-old Chinese girl died last year after receiving an experimental gene therapy to correct a non-life-threatening condition, according to an investigation by Science and Retraction Watch.
19 hours ago
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Tiny BAP1 mutations can disrupt internal signals that suppress tumor growth
Scientists at the Institute of Biochemical Sciences at National Taiwan University have uncovered how tiny genetic changes can disable one of the body's most important tumor-suppressing proteins. Their study, published in ...
18 hours ago
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Inherited gene variants may shape CAR-T therapy benefits and toxic side effects
Chimeric antigen receptor (CAR)-T cell therapy, which reprograms an individual's immune cells to seek out and destroy certain cancer cells, has revolutionized treatment for blood cancers such as lymphoma. But in some patients, ...
18 hours ago
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Recall-by-genotype study demonstrates scalable path toward precision psychiatry
Clinical biobanks that combine genomic data with electronic health records (EHRs) have become powerful resources for discovering genetic variants associated with disease. These biobanks may also be used to identify individuals ...
20 hours ago
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Blurred genome boundaries emerge as a new layer of Alzheimer's biology
Researchers from Carnegie Mellon University's School of Computer Science, the University of Pittsburgh School of Medicine and the University of Washington have shed new light on Alzheimer's disease that could point to new ...
Jul 23, 2026
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Multi-omics map paves way for personalized medicine in Down syndrome
In a recent study published in Nature Communications, researchers from the University of Colorado Anschutz Linda Crnic Institute for Down Syndrome (Crnic Institute) discovered unique biological processes altered among individuals ...
Jul 23, 2026
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Two ways to read a genome: Body-wide, single-cell atlas maps DNA folding and methylation together
Every cell in the human body carries the same 3 billion letters of DNA, yet a neuron, a heart muscle cell and a pancreatic beta cell each use that shared code to do entirely different jobs. How cells pull off this trick comes ...
Jul 23, 2026
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Chemotherapy leaves detectable DNA fingerprints in childhood tumors within 18 months
Nearly half of childhood tumors treated with common types of chemotherapy showed detectable DNA changes linked to treatment within 18 months, according to a new international study led by The Hospital for Sick Children (SickKids). ...
Jul 23, 2026
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Misfolded DNA blueprint: A new origin for genetic disease
Congenital heart disease is the most common birth defect, affecting approximately 1 in 100 babies born each year. One of the many causes of this disorder is having only one functional copy of the gene TBX5, rather than the ...
Jul 23, 2026
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Gene regulation map reveals treatment targets for heart failure
Researchers from the University of California San Diego have created the most detailed map to date of how gene regulation breaks down in human heart failure, revealing how genes are controlled in specific cell types as the ...
Jul 23, 2026
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Test offers new way to personalize treatment, reduce unnecessary chemotherapy for patients with breast cancer
A new cancer diagnostic test marketed by Veracyte and developed by a group of researchers, including UNC geneticist Charles Perou, Ph.D., has been found to accurately predict whether patients with breast cancer need chemotherapy ...
Jul 23, 2026
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Exceptional memory in 80s defies simple Alzheimer's genetic risk explanation
Many people assume that some memory decline is an inevitable consequence of getting older. But a select group of older adults, known as "SuperAgers," reach their 80s and 90s while retaining memory performance as good as or ...
Jul 22, 2026
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Three genetic modifiers may alter inherited Alzheimer's onset and progression
Autosomal dominant Alzheimer's disease (ADAD) is a genetically inherited form of Alzheimer's disease that accounts for only about 1% of Alzheimer's disease cases. However, because individuals with the gene mutations are extremely ...
Jul 22, 2026
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New tool uncovers overlooked disease-linked genes by accounting for ancestry and family ties
Every person's DNA tells a unique story. To unlock the full potential of genetic research, scientists need tools that reflect the complexity of the people they study.
Jul 22, 2026
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Same carcinogen, different tumors: Mouse study reveals the role of genetic background
Why do cancers develop differently in different people—even when they are exposed to the same risk factors? An international research group, including the German Cancer Research Center (DKFZ), has demonstrated in mice that ...
Jul 22, 2026
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Personalized gene therapy helps teen with rare form of severe epilepsy walk independently
SCN2A-related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is caused by single mutations in the sodium voltage-gated ...
Jul 21, 2026
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Sudden cardiac death condition shown to have linked genetic variations
Scientists have found that the "sudden" cardiac death condition related to high-profile deaths or major medical episodes of sports stars including Fabrice Muamba, Christian Erikson and Mark-Vivian Foe, has numerous linked ...
Jul 21, 2026
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Largest genetic analysis of borderline personality disorder identifies 11 risk regions and nine genes
An international team led by the Central Institute of Mental Health in Mannheim has presented the largest genome-wide association study on borderline personality disorder to date. Data from about 13,000 affected people and ...
Jul 20, 2026
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Single-cell atlases of the human body may not fairly represent global populations as AI use grows
The single-cell "atlases" that are increasingly used to map the human body and as training data for artificial intelligence models may not represent the world's populations fairly, according to a study led by researchers ...
Jul 20, 2026
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AI detection not automatically better for colorectal cancer screening in Lynch syndrome, study shows
People with Lynch syndrome, the most common hereditary predisposition to colorectal cancer, face a markedly increased cancer risk and therefore undergo regular colonoscopies. Researchers from the University Hospital Bonn ...
Jul 19, 2026
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Genetic study redefines a form of excessive sweating as a treatable neurological condition
An international research team led by Dr. Frank Bosmans (Vrije Universiteit Brussel) has discovered a major genetic cause of hyperhidrosis (chronic and excessive sweating). The study, published in Science Advances, provides ...
Jul 17, 2026
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Which genes make people more susceptible to depression and other psychiatric disorders?
A study by the University of Barcelona has identified nearly 20 genes that could contribute to some people being more susceptible to depression, anxiety and traits such as irritability and neuroticism. These genes are regulated ...
Jul 17, 2026
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Researchers uncover novel pathway that causes epilepsy
Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about ...
Jul 17, 2026
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Missing metabolite may drive rare childhood brain disorder, new biosensor reveals
Scientists at Children's Medical Center Research Institute at UT Southwestern (CRI) have discovered why babies born with a rare inborn error of metabolism called GPT2 deficiency suffer from severe neurological impairment. ...
Jul 17, 2026
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LIG1 loss exposes a therapeutic vulnerability in triple-negative breast cancer
Loss of one copy of the DNA ligase I (LIG1) gene in triple-negative breast cancers (TNBC) with TP53 mutations confers resistance to chemotherapy, but researchers at Baylor College of Medicine and collaborating institutions ...
Jul 17, 2026
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