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Clinical genetics news
AI tool helps identify harmful epilepsy genetic variants
A new artificial intelligence tool developed by Northwestern Medicine scientists and collaborating institutions can help determine whether genetic variants associated with a severe form of childhood epilepsy will cause disease, ...
2 hours ago
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What happens when brain tumors return? International study tracks genetic changes behind recurring cancers
When patients are diagnosed with certain brain tumors, one of the biggest unanswered questions is what happens when the cancer returns. Among those are IDH-mutant gliomas, a group of brain tumors that invariably recur despite ...
22 hours ago
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Reversible genetic switches could give cancer immunotherapy more precise control
A genetic switch that activates immune cells as they fight tumors: this is the new strategy developed by an international research team coordinated by Velia Siciliano at the Istituto Italiano di Tecnologia (IIT—Italian Institute ...
Oct 14, 2026
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Trapping cancer-driving DNA rings outside cell nucleus silences their genes, researchers find
Cells from rapidly growing, highly metastatic tumors often contain numerous rings of extrachromosomal DNA (ecDNA). This circular DNA frequently carries oncogenes—genes that promote cancer. Researchers have long sought vulnerabilities ...
Oct 14, 2026
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Overlooked DNA regions surrounding 'microexons' may hold missing pieces of autism's genetic puzzle
New research from scientists at the University of Toronto, the Sloan Kettering Institute, King's College London (KCL) and the Francis Crick Institute is helping piece together the missing genetics of autism spectrum disorder ...
Oct 14, 2026
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A drug can make children with the most common form of dwarfism taller—but height isn't the same as a better life
A drug that helps children with the most common form of dwarfism grow taller has sparked an ethical debate within the dwarfism community.
Oct 14, 2026
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Researchers identify role of newly discovered genetic variant in neurodevelopmental disorder
Researchers from Children's Hospital of Philadelphia (CHOP) have discovered the mechanisms of previously unknown changes in a gene that result in symptoms associated with a neurodevelopmental disorder. The findings underscore ...
Oct 14, 2026
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Continuously evolving cells help pancreatic cancer evade treatment and spread
An analysis of nearly half a million cells from dozens of patients' tumors reveals how cancer cells continuously reshape their genetic makeup over time, enabling them to evade treatment for one of the deadliest forms of cancer.
Oct 13, 2026
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Bigger data reveal the second, third and fourth switches controlling a gene
We now take for granted the idea that a genome-wide association study, or GWAS, can help identify genetic variants associated with complex traits. Such studies have identified loci associated with everything from breast cancer ...
Oct 13, 2026
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Prime editing repairs immune disorder defect in patient's own blood stem cells
Some people are born with a defect in their genetic material that prevents their immune system from functioning properly. In people with a condition known as GATA2 deficiency, the body does not produce enough immune cells, ...
Oct 13, 2026
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Helping others linked to slower cognitive decline among people at higher genetic risk for Alzheimer's
Regularly volunteering or informally helping people outside one's home may buffer against accelerated decline in memory and thinking for people with a major genetic risk factor for Alzheimer's disease, according to new research ...
Oct 13, 2026
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Had genetic testing for cancer risk years ago? Newer tests may find what old ones missed
Women who had genetic testing for inherited cancer risk years ago may want to ask about testing again, experts say.
Oct 13, 2026
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Experiments reveal how DNA-packaging protein mutation promotes breast cancer spread
A research team led by professor Chan Kui-ming from the Department of Biomedical Sciences at CityUHK discovered that H2BE113K, a missense H2B mutation, promotes colony formation and lung metastasis in breast cancer. The research ...
Oct 12, 2026
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Study offers new clues about how genetic risk for Alzheimer's affects brain immune cells
Researchers at the University of Colorado Anschutz and Pacific Northwest National Laboratory have found a new clue that may help explain why some people are more likely to develop Alzheimer's disease. It suggests that a protein ...
Oct 12, 2026
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Novel study explores how different types of genetic risk impact the manifestation of alcohol use disorder
Multiple types of genetic influence affect the severity and presentation of alcohol use disorder (AUD), according to what may be the first study examining the joint effects of three types of genetic liability on alcohol outcomes. ...
Oct 12, 2026
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DNA changes in Alzheimer's disease: What they mean to patients, families
Scientists know that age is the greatest risk factor for Alzheimer's disease, but aging alone doesn't explain why some people develop the condition while others do not. Genetics, lifestyle factors and environmental influences ...
Oct 12, 2026
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An extremely old giant tortoise named Jonathan may hold the secret to a long, healthy life
An international collaboration led by a neurologist and experts in advanced genomics at Vanderbilt Health has coaxed one of the secrets of extreme longevity from a 194-year-old giant tortoise named Jonathan.
Oct 11, 2026
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Physical activity weakens link between genetic risk and depression severity, long-term data suggest
Major depressive disorder (MDD), one type of depression, is one of the most common psychiatric conditions worldwide. It is characterized by persistent low mood and a loss of interest in everyday activities, along with changes ...
New genetic candidates help explain why autism affects males more often than females
Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital and collaborating institutions have identified new genetic candidates that help explain why autism ...
Oct 10, 2026
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Aspirin rarely used for colorectal cancer prevention
People with Lynch syndrome have a significantly increased risk of developing colorectal cancer and other types of cancer due to a hereditary predisposition. The CAPP2 study had already shown in this high-risk group that acetylsalicylic ...
Oct 10, 2026
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Blood cells from 80-year-old donor become stem cells with molecular age under 20
Researchers from the University Hospital of Bonn and the University of Bonn have succeeded in dramatically rejuvenating human cells in a test tube. To do so, they directly reprogrammed red blood cell precursors into stem ...
Oct 9, 2026
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Lab-grown blood vessels reveal roles of different cells in rapid-aging disease
Biomedical engineers at Duke University have developed a three-layer model of human blood vessels that enables researchers to better understand how Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder that ...
Oct 9, 2026
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Polynesian wayfinding is written in the genomes of island populations
For centuries, Polynesian navigators crossed thousands of miles of open ocean, using their knowledge of stars, currents, birds, clouds and the sea to settle islands across the Pacific. Now, a new University of California ...
Oct 8, 2026
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Fat-storing gene emerges as possible contributor to anorexia risk
A gene primarily active in fat and muscles could make a person more susceptible to anorexia nervosa, a deadly eating disorder with one of the highest mortality rates of any psychiatric disease.
Oct 8, 2026
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