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Clinical genetics news
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 ...
11 hours ago
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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 ...
11 hours ago
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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 ...
8 hours ago
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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, ...
16 hours ago
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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. ...
12 hours ago
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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 ...
16 hours ago
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New open tool can facilitate the reuse of genomic data
The GCAT|Genomes for Life team, a strategic project of the Germans Trias i Pujol Research Institute (IGTP), has developed PolyGenie, a new tool designed to facilitate the exploration and reuse of genomic data by the research ...
12 hours ago
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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 ...
14 hours ago
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New pancreatic cancer strategy kills KRAS-mutant tumor cells and extends survival in mice
Researchers at the University of Cologne's Center for Molecular Medicine Cologne (CMMC) have discovered a previously unknown mechanism that makes most pancreatic cancer cells susceptible to a form of programmed cell death. ...
Jun 16, 2026
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Large-scale genetic study uncovers new factors associated with a pregnancy-related liver disease
Intrahepatic cholestasis of pregnancy (ICP) affects approximately 0.2–2% of pregnant women and typically develops after 30 weeks of gestation. As the most common symptom is severe itching of the palms and the soles of the ...
Jun 16, 2026
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Genomics may improve diagnosis of neurodevelopmental disorders in Italy
A collaborative study used whole-genome sequencing to examine the genetic makeup of 110 children from Aosta Valley (Valle d'Aosta) with neurodevelopmental disorders and their parents. In a number of cases, researchers identified ...
Jun 16, 2026
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Large-scale population studies needed to reduce risks from newborn genome screening, investigators conclude
New research from large population studies provides invaluable evidence on genome screening of newborn babies to reduce risks from overdiagnosis. The authors conclude that further studies are needed before such screening ...
Jun 16, 2026
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People diagnosed with ADHD and autism more recently show lower genetic risk than earlier cases
The rise in the number of cases of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) always gets quite a bit of attention from both the public and the media. This has led to the rise of several ...
World's largest genetic study of 'moliness' helps unravel mysteries of melanoma
QIMR Berghofer scientists have uncovered hundreds of genes that play a role in the growth of both moles and melanoma, in a discovery that could lead to new ways of preventing and treating the deadliest form of skin cancer. ...
Jun 15, 2026
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Your gut talks to your liver: Study reveals how microbes influence liver function through DNA 'switches'
A study led by scientists from the A*STAR Genome Institute of Singapore (A*STAR GIS) has uncovered how the gut microbiome can influence gene activity in the liver by acting on short stretches of regulatory DNA that function ...
Jun 15, 2026
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Genetic marker may flag severe IBD earlier in some patients
In the largest genetic study of inflammatory bowel disease (IBD) traits to date, researchers have identified a genetic marker associated with more severe ulcerative colitis and Crohn's disease—the major forms of IBD.
Jun 15, 2026
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How a long, healthy lifespan may be passed down across generations
Understanding why some people stay healthy without developing disease until late in life (have an increased healthspan), whereas others become infirm at a much younger age, has important implications for the health of today's ...
Jun 15, 2026
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European study shows that prevention in patients with inherited cancer risks produces substantial cost benefits
Screening people with the rare, inherited cancer-causing condition Li-Fraumeni syndrome (LFS) brings both medical and economic benefits to patients and health care systems, according to research to be presented to the annual ...
Jun 15, 2026
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Integrating genetic origin data with tumor analyses enables better prediction of survival
New research to be presented today at the annual conference of the European Society of Human Genetics shows that a cancer patient's genetic ancestry can have a significant effect both on how their disease progresses and their ...
Jun 14, 2026
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Creating mini-brains from stem cells reveals a new, promising treatment for a devastating childhood disease
Variants in the DHDDS gene cause a severe neurodegenerative condition, characterized by tremors, seizures, coordination and learning difficulties, usually manifesting in early childhood. This Parkinson's-like condition is ...
Jun 14, 2026
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Long-read DNA test lifts rare disease diagnoses and could replace 15 other tests
A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often. The test can replace 15 other tests, making it faster and more efficient. Researchers from Radboud ...
Jun 13, 2026
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Adding genetic data to steroid prescribing can help predict side effects, data suggest
Oral corticosteroids (OCSs) are widely used and effective in the treatment of chronic inflammatory conditions such as arthritis, asthma and autoimmune diseases. They work by reducing inflammation, relieving pain and calming ...
Jun 13, 2026
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Faulty protein cleanup gene tied to severe early-onset neurological disorders
Though protein clumps associated with Alzheimer's and Parkinson's were discovered more than a century ago, researchers remain largely unable to prevent them from forming or eliminate them from the brain. And though a variety ...
Jun 12, 2026
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COPA mutations reveal alternative trigger for small intestine tumors
A signaling system known as the Wnt pathway plays a central role in how cells in the intestine grow, divide and renew themselves. Decades of research have shown that disruption of this pathway is a defining feature of many ...
Jun 12, 2026
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Results of non-invasive prenatal testing compare well to those from invasive methods, with better safety and cost
While noninvasive prenatal testing (NIPT) has revolutionized prenatal diagnostics by allowing the detection of a number of genetic problems in a fetus, it is currently limited and thus misses many genetic causes of abnormalities. ...
Jun 12, 2026
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