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Clinical genetics news
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 ...
13 hours ago
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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 ...
22 hours ago
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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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Q&A: A new model reveals hidden disease signatures and predicts health outcomes
Sarah Urbut, MD, Ph.D., of the Mass General Brigham Heart and Vascular Institute, is the lead author of a paper published in Nature, "A Bayesian framework for longitudinal EHR and genetic discovery." Pradeep Natarajan, MD, ...
Jul 17, 2026
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Global Parkinson's gene map uncovers regional differences across 11 world regions
Parkinson's disease is the second most common neurodegenerative disease worldwide after Alzheimer's disease and, according to the World Health Organization, one of the fastest-growing neurological disorders. Yet genetic research ...
Jul 16, 2026
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Gene therapy restores key fragile X traits in preclinical study
A gene therapy designed to replace the missing protein that causes fragile X syndrome restored several disease-relevant traits in a mouse model, according to a new study published in Gene Therapy.
Jul 15, 2026
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Newborn screening: Why clear communication matters as testing expands
"I think you always believe it's never going to happen to me." That is how one parent described learning that their newborn baby had been identified as being at possible risk of a rare genetic condition through routine newborn ...
Jul 15, 2026
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Scientists uncover genetic clues from a tumor-prone reptile that could advance cancer research
A new study led by experts at the University of Nottingham suggests a pet gecko with an unusually high risk of tumors may be a promising model for understanding how cancer develops and spreads. The findings of the study, ...
Jul 14, 2026
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Genetic safeguard protects the female heart—and what happens when it's lost
Men and women are not born with the same risk of heart disease, and for decades scientists have struggled to explain why. A new study from the University of North Carolina at Chapel Hill, published in Genes & Development, ...
Jul 14, 2026
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Populationwide DNA screening expands genetic risk testing beyond major medical centers
Some people inherit genetic changes that put them at higher risk of developing certain cancers or heart disease. A simple genetic test can identify those risks early, creating opportunities to prevent disease or detect it ...
Jul 13, 2026
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Knowledge about genes isn't enough: How to inform people about genetic risk of obesity
Does informing people about their genetic risk of obesity help them change their habits and lose excess weight? A study published in the journal Obesity Reviews by scientists, including researchers from SWPS University, shows ...
Jul 13, 2026
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Gene discovery may unlock infertility, early menopause clues
Most women are aware that fertility declines dramatically with age. This is mainly due to the gradual loss of eggs and follicles from the ovaries, leading to infertility, irregular cycles and ultimately menopause.
Jul 12, 2026
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Links between genetics and cognition change across childhood
Rare DNA changes are most strongly linked to cognition in early childhood, but the link fades as children age, while common DNA changes show stronger links later in childhood, a new study finds. The research was reported ...
Jul 10, 2026
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This unusual epigenetic modifier promotes certain cancers but suppresses others
The epigenetic modifier MLL4 has an unassuming name—the 4, for instance, indicates it's just one in a family of such modifiers. But MLL4 is quite special: In a specific type of leukemia, it drives disease progression, while ...
Jul 10, 2026
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Genetic mapping identifies new hope for bone diseases
In a global breakthrough published in Nature Genetics, researchers have successfully mapped the cells and genes that regulate bone formation and loss at an unprecedented scale and discovered the critical role that blood vessel ...
Jul 10, 2026
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Autism research finds Phelan-McDermid syndrome may affect 1 in 7,300 people: More common than previously thought
New research, led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai and published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 ...
Jul 10, 2026
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Genome editing in rats enables more accurate estrogen receptor-positive breast cancer models
Rat disease models have played an integral role in scientific discovery and cancer research, including Nobel Prize–winning work from Charles Huggins on hormone therapy for prostate cancer in 1966. However, technical challenges ...
Jul 9, 2026
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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, ...
Jul 9, 2026
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