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Clinical genetics news
Deep-learning algorithms enhance mutation detection in cancer and RNA sequencing
Researchers from the Faculty of Engineering at The University of Hong Kong (HKU) have developed two innovative deep-learning algorithms, ClairS-TO and Clair3-RNA, that significantly advance genetic mutation detection in cancer ...
4 minutes ago
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Li-Fraumeni syndrome: How the immune system may shape inherited cancer risk
Li-Fraumeni syndrome is a rare hereditary disease that significantly increases the risk of developing cancer. Almost all affected individuals receive a cancer diagnosis at least once in their lifetime. A new study suggests ...
4 hours ago
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Cancer's secret safety net: A hidden mechanism lets dangerous mutations thrive
Researchers in Class of 1942 Professor of Chemistry Matthew D. Shoulders' lab have uncovered a sinister hidden mechanism that can allow cancer cells to survive (and, in some cases, thrive) even when hit with powerful drugs. ...
9 hours ago
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Lab-grown mini-stomachs could boost understanding of rare diseases
Researchers at UCL and Great Ormond Street Hospital (GOSH) have developed the first-ever lab-grown mini-stomach that contains the key components of the full-sized human organ. Known as a multi-regional assembloid, the pea-sized ...
2 hours ago
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Large genetic study uncovers 34 regions linked to allergic conjunctivitis risk
Itchy, red and watery eyes are familiar symptoms for many people, especially during the spring and summer pollen season. Allergic conjunctivitis is a very common condition, but its hereditary background has not previously ...
7 hours ago
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Gene therapy could treat a deadly heart condition that targets young athletes
A University of California San Diego-led team has discovered that restoring a key cardiac protein called connexin‑43 in a mouse model can dramatically improve heart function and extend survival in several inherited forms ...
10 hours ago
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Project adds more than 1,000 new African genomes to global science
A newly published paper in Nature describes the complex process of launching a nine-country collaboration in Africa to significantly expand scientists' understanding of human genetic diversity. This can reveal new insights ...
Jan 25, 2026
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Single gene found to influence gut bacteria balance and IBD susceptibility
Two recent studies from the University of California, Riverside, published in the same issue of Gut Microbes highlight the role of a gene called PTPN2 in protecting the gut from harmful bacteria linked to inflammatory bowel ...
Jan 24, 2026
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Rare cranial disorders: Towards a non-invasive therapy using gene silencing delivered by nanoparticles and 3D printing
A "gene silencer" (technically known as small interfering RNA, or siRNA), locally delivered by nanoparticles embedded in an injectable gel produced through 3D printing, can switch off the defective gene responsible for serious ...
Jan 23, 2026
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Williams-Beuren syndrome: Early enzyme changes may hold key to future treatments
Williams-Beuren syndrome is a rare, congenital disease in which the main morbidity and mortality comes from obstructions, or stenoses, in specific arteries. When these obstructions involve the aorta, it is known as supravalvular ...
Jan 23, 2026
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Neuronal activity reveals new clues to ALS progression
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with no cure and limited treatment options. One of the earliest signs of ALS is overactive brain signals known as cortical hyperexcitability. ...
Jan 23, 2026
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AI tool predicts cancer metastasis risk using gene expression signatures
Why do some tumors spread while others remain localized? The mechanisms governing the metastatic potential of tumor cells remain largely unknown—yet understanding this is crucial for optimizing patient care.
Jan 22, 2026
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Q&A: Researcher discusses new tool to predict how cancer evolves
Researchers at Moffitt Cancer Center have developed a new way to predict how cancer cells evolve by gaining and losing whole chromosomes, changes that help tumors grow, adapt and resist treatment. In a new study, scientists ...
Jan 22, 2026
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Largest genetic study of schizophrenia and African ancestry reveals shared biology across global populations
A team of researchers has conducted the largest and most comprehensive genome-wide association study (GWAS) to date of schizophrenia in individuals of African ancestry.
Jan 21, 2026
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Maternal genetic factors may reveal why pregnancy loss is so common
By studying genetic data from nearly 140,000 IVF embryos, scientists have with unprecedented detail revealed why fewer than half of human conceptions survive to birth. The research uncovered the strongest evidence yet for ...
Jan 21, 2026
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Super-enhancers in cancer cells trigger DNA breaks and error-prone repair cycles
A new study shows that cancer damages its own DNA by pushing key genes to work too hard. Researchers found that the most powerful genetic "on switches" in cancer cells, called super-enhancers, drive unusually intense gene ...
Jan 21, 2026
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Unexpected vitamin B1 connection emerges in genetic study of gut motility
Bowel habits aren't exactly dinner-table talk. But they reflect how quickly the gut moves things along, and when that goes wrong, people can experience constipation, diarrhea, or irritable bowel syndrome (IBS). Yet the biological ...
Jan 20, 2026
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Preventing 'spermageddon'—discovery of an immune-like mechanism that protects fertility
New insights into a sophisticated process that protects sperm cells has revealed a mechanism, similar to an immune system, thwarts genetic chaos during the earliest stages of their development.
Jan 20, 2026
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Unusual KRAS mutation in pancreatic cancer may explain less aggressive tumors
A study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene mutation behaves differently from other variants.
Jan 20, 2026
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Qatari genetic map reveals over 150,000 structural variants
Research co-led by King's College London and Sidra Medicine, Qatar, has produced the most detailed map to date of large-scale genetic differences in the Qatari population, providing a clearer picture of the genetic diversity ...
Jan 20, 2026
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Machine learning identifies factors that may determine the age of onset of Huntington's disease
A team from the Faculty of Medicine and Health Sciences and the Institute of Neurosciences at the University of Barcelona (UBneuro) has applied advanced artificial intelligence techniques to better understand why Huntington's ...
Jan 20, 2026
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Brazilian research reveals how some types of breast cancer 'evade' treatment
Brazilian researchers have identified previously unknown forms of a protein linked to breast cancer. The discovery contributes to our understanding of variability in responses to treatment, even with the most advanced therapies.
Jan 20, 2026
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Motor protein discovery in fruit flies may unlock neurodegenerative secrets
Scientists have long known that inherited neurodegenerative disorders, including Alzheimer's, Parkinson's or motor neuron disease, can be traced back to genetic mutations. However, how they cause the diseases remains unanswered.
Jan 19, 2026
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Structure-based RNA could lead to treatment for neuromuscular disorders
Researchers from Carnegie Mellon University have discovered a way to target RNA that could lead to new treatment options for myotonic dystrophy type 1 (DM1), the most common adult-onset form of muscular dystrophy, and other ...
Jan 18, 2026
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Novel liquid biopsy technology lowers barriers for more efficient cancer diagnostics
A novel liquid biopsy technology is set to advance cancer diagnostics and monitoring by overcoming the long-standing challenge of simultaneously achieving high sensitivity, broad coverage, and simple workflow. A team of researchers ...
Jan 17, 2026
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