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Clinical genetics news
Scientists uncover why some Huntington's disease patients decline years earlier
A new study has revealed why some people with Huntington's disease develop symptoms 10–12 years earlier and experience a more aggressive form of the disease.
Sep 14, 2026
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FMN1 gene is essential for hearing, study reveals
A new study has identified FMN1 as a gene required for hearing in both humans and mice, revealing a previously unknown role for formin-1 in maintaining the microscopic cellular architecture of the inner ear. The findings ...
Sep 14, 2026
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Hidden proteins in 'non-coding' RNA may offer new clues to cancer progression
Scientists have long believed that large stretches of our genetic material, known as long noncoding RNAs (lncRNAs), help regulate genes but do not produce proteins. A new study by Stav Zok and Professor Michal Linial from ...
Sep 14, 2026
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New framework identifies 108 lysosomal disorders, nearly doubling recognized conditions
Lysosomal disorders can have devastating effects on patients but findings from a University of Sheffield-led collaborative study could support more precise diagnosis and help researchers identify shared targets for future ...
Sep 14, 2026
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Pharmacogenomics: How your genes could help doctors choose the right medicine and dose
Two people can take the same dose of the same medicine and have very different results. One may improve, while the other gets little benefit or develops serious side effects. Part of the explanation often lies in their genes.
Sep 14, 2026
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Shedding new light on DNA repair in early human embryos, with implications for gene editing
Treating inherited diseases is one of the greatest challenges in modern medicine. In the future, targeted gene corrections at the earliest stages of embryonic development could help prevent certain inherited diseases from ...
Sep 12, 2026
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Blood and gene tests predict Alzheimer's symptoms three to six years ahead
Columbia University researchers have identified a way to help predict when people at high risk of developing Alzheimer's are likely to develop their first symptoms, a finding that could help physicians decide when to prescribe ...
Sep 11, 2026
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The brain's blood vessels may hold a key to Alzheimer's—and protection from it
Alzheimer's disease is one of the most feared diagnoses among older adults, particularly for those who know they carry a high-risk gene that magnifies their odds. But even many people with this gene—APOE ε4—dodge the disease ...
Sep 11, 2026
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New brain atlas shows neurons don't inherit their identity—they build it in their first hours of life
A brain contains hundreds or thousands of different kinds of neurons, each with its own shape, connections and function. Yet all of them arise from a comparatively small pool of dividing neural stem cells. How does a newly-born ...
Sep 11, 2026
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Two newly implicated genes reveal why some patients' cilia cannot clear mucus in the lungs
Hair-like appendages called motile cilia beat in synchrony on cells in many parts of the body to keep fluids and particles moving, such as clearing mucus in the lungs so it can be coughed out.
Sep 11, 2026
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Genetic mapping reveals complex traits draw more heritability from intergenic DNA
Schizophrenia, height, cholesterol. Each has its own genetic signature. That signature is made up of genetic variants: small differences in the DNA sequence that make one person's genome differ from another's. Some traits, ...
Sep 11, 2026
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Gene editing advance shows promise as long-lasting treatment for rare liver disease
Researchers have taken an important step toward solving one of the biggest challenges in gene therapy for children with metabolic liver disorders: growth itself. As a child's liver grows, some gene therapies that once worked ...
Sep 11, 2026
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Antiviral defense gained at the cost of autoimmunity risk, study shows
Why do genetic variants that increase the risk of autoimmune disease remain so common in the population?
Sep 11, 2026
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RNA creates a self-destruct switch for cellular machinery linked to leukemia
Cells have all kinds of intricate machinery to control genes, switching them on and off at the right times and under the right conditions. Components of this machinery include chromatin-modifying complexes, groups of proteins ...
Sep 10, 2026
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Rare variant reveals new hereditary retinal disease that can first impair night vision
An international team of researchers led by the University Hospital and University of Bonn, as well as the universities of Edinburgh, Basel and Pennsylvania, has identified a previously unrecognized form of inherited retinal ...
Sep 10, 2026
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Calorie restriction reveals a potential way to slow age-related DNA mutations
Mutations are changes in the molecular "letters" that make up DNA, the genetic blueprint for cells. Mutations build up with age in every cell when DNA is damaged or when cells make mistakes in fixing or copying it. Most mutations ...
Sep 9, 2026
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Certain DNA signatures may reveal which prostate cancers are most likely to spread
Prostate cancer is the second most common form of cancer among men globally. Yet, we still know relatively little about why the disease develops or why some men live with it for years while it progresses aggressively in others.
Sep 9, 2026
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Blood protein analysis could help diagnose rare diseases missed by genome sequencing
Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects ...
Sep 9, 2026
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Common genetic marker associated with faster Parkinson's disease progression
A new study by investigators from the Mass General Brigham Neuroscience Institute has identified common genetic variants in the MC1R gene as markers of faster motor decline in people with Parkinson's disease (PD). The findings, ...
Sep 9, 2026
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Spleen scans reveal genetic clues to coronary artery disease risk
A new study led by investigators from Mass General Brigham reveals that certain features in the spleen hidden within imaging scans may signal a person's risk of coronary artery disease (CAD), suggesting targets for prevention ...
Sep 9, 2026
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Nearly half of depression risk factors overlap with physical illnesses, especially gut disease
QIMR Berghofer researchers have identified a strong genetic link between gut-related health conditions and depression in a study offering new insights into why physical illnesses often accompany the mental health condition.
Sep 8, 2026
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How losing the 'guardian of the genome' can damage DNA and drive cancer
A new study finds that when p53, one of the most important cancer-protecting genes, stops working, cells produce too much RNA and consume excessive amounts of the building blocks needed to copy their DNA. This shortage disrupts ...
Sep 7, 2026
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New framework boosts the accuracy of disease risk prediction from genetic data
Investigators at Cedars-Sinai Health Sciences University have developed a computational framework to improve how genetic data is used to estimate an individual's inherited risk of developing conditions like Alzheimer's disease, ...
Sep 7, 2026
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