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Clinical genetics news
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 ...
8 hours ago
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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; ...
10 hours ago
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Hidden protein linked to severe COVID-19 and lung disease risk
A genetic difference carried by nearly one in three people may increase the risk of severe COVID-19 and lung fibrosis by disrupting the function of a previously unknown protein, according to a new study published in Nature ...
6 hours ago
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Genetic testing projected to increase ALS clinic visits over next decade
The availability of genetic testing for amyotrophic lateral sclerosis (ALS) for people with a family member diagnosed with the disease is expected to greatly increase the number of clinic visits to specialized ALS centers ...
7 hours ago
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Why pollution affects some asthma patients more than others
For many people with asthma, air-quality advisories are harbingers of worsening symptoms. But for reasons science has struggled to explain, the extent to which pollution exacerbates asthma varies widely from person to person.
Jun 23, 2026
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Discovery of BIRC3 gene variants in Crohn's disease yields a druggable pathway
Researchers from The Hospital for Sick Children (SickKids) in Toronto have found a previously unknown genetic cause of Crohn's disease and uncovered how those changes trigger inflammation through a key immune pathway. The ...
Jun 23, 2026
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Link between parents' and children's weight is mostly genetic, study finds
The association between parents' body mass index (BMI) and their children's childhood BMI may be primarily due to genetic inheritance rather than any direct biological effect of parental weight during pregnancy, according ...
Jun 23, 2026
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Scientists uncover a genetic 'shield' that lowers the risk of colorectal cancer
A team of scientists from the Barbara Ann Karmanos Cancer Institute, Wayne State University and institutions across the U.S. have published a new paper on the role of TGFBR1*6A, a naturally occurring genetic mutation in the ...
Jun 23, 2026
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Ménière's disease may begin early in inner ear development
By analyzing genetic data from nearly 2 million people, researchers have unlocked a new scientific understanding of Ménière's disease, a chronic and often debilitating inner ear disorder. A team from the Perelman School of ...
Jun 23, 2026
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AI and polygenic scores improve breast cancer risk assessment
A risk model that combines a mammographic artificial intelligence (AI) risk score with polygenic and clinical risk scores more accurately identifies women at high risk of developing breast cancer than clinical risk scores ...
Jun 23, 2026
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More than 600 schizophrenia-associated genes uncovered by network model
Schizophrenia is more complicated than ever imagined. Advanced gene network analysis reveals how distant genetic variants work together to influence brain function and mental health. Scientists have long known that schizophrenia ...
Jun 22, 2026
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Quantum-inspired AI could tailor patients' cancer treatment to their entire molecular background
For a child diagnosed with neuroblastoma—the most common infant cancer, occurring when early nerve cells grow out of control—the path to treatment isn't simple. Some types of neuroblastoma resolve on their own, while others ...
Jun 22, 2026
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Social determinants of health can match or beat genetic risk in predicting some common diseases
A new study from the Icahn School of Medicine at Mount Sinai shows that social determinants of health—including environmental conditions, health behaviors, access to resources and social well-being—can play an equally important ...
Jun 22, 2026
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Lab-grown neurofibromatosis 1 tumors reveal how benign growths turn malignant
A research team from the Germans Trias i Pujol Research Institute (IGTP) has developed a new experimental model based on induced pluripotent stem cells (iPSCs) that makes it possible to reproduce in the laboratory the progression ...
Jun 22, 2026
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Three genes may link six mental disorders through shared biomarkers
Different neuropsychiatric and neurodevelopmental conditions, such as schizophrenia, bipolar disorder, attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are characterized by highly distinct ...
Fragile X deficits in mice respond to gene therapy
A gene therapy designed to replace a missing brain protein restored normal brain activity and improved behavior in a mouse model of fragile X syndrome (FXS), according to a study led by researchers at the University of California, ...
Jun 20, 2026
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Gene therapy shows promise in ARC syndrome, a deadly childhood liver disease
A new gene therapy has been used to successfully treat a deadly childhood liver disease in mice that model the disease, according to researchers at UCL and Great Ormond Street Hospital. Arthrogryposis, renal dysfunction and ...
Jun 19, 2026
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These tiny genetic fragments may be critical for telling a brain when to rest
The altered presence of tiny fragments of neuronal genes, called microexons, causes hyperarousal in zebrafish. This is the main conclusion of an international study led by Pompeu Fabra University (UPF) and the Center for ...
Jun 19, 2026
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MAP1B reveals unexpected role for cytoskeletal proteins in brain development
The cytoskeleton gives cells their shape and helps them move. Researchers at Helmholtz Munich and Ludwig Maximilian University now show that, in neural stem cells, proteins of the cytoskeleton are also found in the cell nucleus, ...
Jun 19, 2026
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Restless legs syndrome—zebrafish reveal a cerebellar connection
An irresistible urge to move the legs or other areas, often accompanied by unpleasant sensations at night or during rest: Restless Legs Syndrome (RLS) affects millions of people worldwide. Despite being one of the most common ...
Jun 18, 2026
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Link between genetics and BMI has become stronger since rise in obesity rates, study finds
People who carry genetic variations linked to obesity are more likely to be heavier now than individuals with the same variants who were born before the recent obesity epidemic. Liam Wright of University College London and ...
Jun 18, 2026
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Gene tied to energy production in brain could lead to new treatment for cognitive disorders
Researchers in the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo have discovered a connection between a specific gene and healthy brain function. "The hope is that this discovery could eventually ...
Jun 18, 2026
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How sleep and AQP4 gene variants may jointly shape early Alzheimer's brain changes
New research from Edith Cowan University has discovered an important link between genes and sleep habits, suggesting they work together to influence early brain and cognitive changes associated with Alzheimer's disease long ...
Jun 18, 2026
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Fat surrounding the aorta may play a key role in Marfan syndrome
A team led by researchers from the UAB and the network of biomedical research centers in cardiovascular diseases CIBERCV has demonstrated that the fatty tissue surrounding the aorta actively participates in the regulation ...
Jun 18, 2026
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Pakistani genomes reveal 34,000 knockouts that could explain why mouse-based drugs fail in humans
A comprehensive analysis of 173,303 genomes from Pakistan, published today in Nature, is upending how scientists understand human genetics and drug development. By identifying 34,000 people who are "human knockouts," with ...
Jun 17, 2026
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