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Clinical genetics news
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 ...
28 minutes ago
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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 ...
5 hours ago
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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 ...
4 hours ago
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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 ...
7 hours ago
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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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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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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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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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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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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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Autism-related genes may share common path during early brain development
Hundreds of genes have been linked to autism, yet the precise molecular and cellular mechanisms behind it remain largely unclear. A new study published in Nature, led by Gaia Novarino at the Institute of Science and Technology ...
Jun 17, 2026
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Newborn neurons routinely break then repair DNA during brain cortex formation, study reveals
Newborn nerve cells must squeeze through crowded, narrow spaces—through dense tissue, past other cells, and between fibers—to reach the areas where they form neural circuits in the brain cortex. In a study published in Nature, ...
Jun 17, 2026
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Gene mutations may explain some spontaneous spinal fluid leaks
Researchers at Cedars-Sinai Health Sciences University and Johns Hopkins University have identified genetic mutations that may explain why some people develop a spontaneous cerebrospinal fluid (CSF) leak in the spine. The ...
Jun 17, 2026
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Key Alzheimer's risk factor may behave differently in older Hispanic adults
Researchers at the USC Mark and Mary Stevens Neuroimaging and Informatics Institute (Stevens INI) at the Keck School of Medicine of USC analyzed brain imaging and clinical data from more than 17,000 participants across five ...
Jun 17, 2026
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Gene therapy shows promise for life-threatening inherited heart disease
A new gene therapy appears to be safe in patients diagnosed with Friedreich ataxia cardiomyopathy, a progressive and fatal inherited cardiac disease, according to a phase 1 clinical trial led by Weill Cornell Medicine researchers. ...
Jun 17, 2026
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Lymphatic dysfunction drives heart valve disease in Marfan syndrome patients
Dysfunction in the lymphatic system has been identified as a hidden driver of life-threatening heart valve disease in patients with Marfan syndrome, according to a new Northwestern Medicine study published in the Journal ...
Jun 17, 2026
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