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Clinical genetics news
Ultra-rare gene variant appears as schizophrenia or autism in one island family
For most of a century, psychiatry has kept its disorders in separate rooms. Schizophrenia in one. Bipolar disorder in another. Autism somewhere down a different corridor entirely. The arrangement was orderly, and it organized ...
36 minutes ago
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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. ...
20 hours ago
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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 ...
16 hours ago
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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.
17 hours ago
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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 ...
17 hours ago
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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 ...
17 hours ago
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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 ...
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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Genetic map for cocaine addiction points beyond brain to liver
Researchers at the University of California San Diego have completed a massive genetic study that identifies key biological drivers of cocaine addiction, uncovering a potential new target for treatment that resides in the ...
Jun 11, 2026
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Novel gene therapy platform restores muscle function in Duchenne muscular dystrophy model
A new treatment platform developed by researchers at the University of Texas MD Anderson Cancer Center was able to deliver messenger RNA (mRNA) of the full-length DMD gene into preclinical models of Duchenne muscular dystrophy, ...
Jun 11, 2026
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HERC2 gene's key role in rare neurodevelopmental syndrome deciphered
For years, it has been known that mutations in both copies of the HERC2 gene are associated with a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, features of the autism spectrum ...
Jun 11, 2026
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Rat kidneys grown in mice offer new insights into addressing organ donor shortages
Kidney transplantation remains the most effective treatment for end-stage kidney disease, yet a severe shortage of donor organs continues to limit access for millions of patients worldwide. With demand for kidney transplants ...
Jun 11, 2026
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CRISPR enzyme precisely detects and shreds DNA in cancer mutations once considered 'undruggable'
In 2020, Jennifer Doudna won the Nobel Prize in chemistry for her work on the CRISPR-Cas9 gene-editing technology that allows scientists to precisely modify DNA by cutting it at specific locations. Six years later, a new ...
Decades-old puzzle solved as scientists uncover cause of inflammatory bowel disease
Researchers at the Nuffield Department of Medicine, University of Oxford, together with Newcastle University's Translational and Clinical Research Institute and the Department of Immunology at Cambridge University Hospitals ...
Jun 10, 2026
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Pangenome graph unlocks 20 near-complete variant groups in Japanese genomes
The race to complete the human pangenome—which comprises all genetic information across the human species—has been underway since 2022, when the first complete reference human genome sequence was released by the international ...
Jun 10, 2026
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A hidden DNA genome protector may explain why health and aging differ between men and women
How diseases develop and how the body ages can differ between females and males, but the biological reasons for these differences are not fully understood. Researchers are studying the role of sex chromosomes to better understand ...
Jun 10, 2026
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Early Rett syndrome clues emerge as 12 genes shift before symptoms appear
To better understand what drives the emergence of symptoms in Rett syndrome, researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital took a closer ...
Jun 10, 2026
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Human traits beyond inherited genes can still leave a measurable imprint on your life, study shows
Our parents' genes, even the ones we didn't inherit, leave a measurable lasting imprint on our lives. An international team led by researchers at the Institute of Science and Technology Austria (ISTA) and the Norwegian Institute ...
Jun 9, 2026
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Novel genetic links for anxiety symptoms uncovered in largest study to date
A study led by researchers at King's College London and QIMR Berghofer Medical Research Institute has analyzed genetic data on anxiety symptoms in 693,869 people of European ancestry, revealing new insights into the genetic ...
Jun 9, 2026
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