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Clinical genetics news
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.
16 hours ago
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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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Super agers tend to have at least two key genetic advantages, study finds
The gene variant posing the greatest genetic risk of late-onset Alzheimer's disease (AD) is called APOE-ε4. A different variant of the same gene, APOE-ε2, is thought to confer protection against AD.
Jan 16, 2026
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Alternative RNA splicing tied to schizophrenia-like behaviors in animal models
In a new study, Chinese researchers have discovered the previously unrecognized role of alternative splicing of the DOC2A gene in schizophrenia.
Jan 16, 2026
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Immune-targeting vaccine shows promise intercepting cancer in patients with Lynch Syndrome
The investigational cancer vaccine, NOUS-209, was found to safely stimulate the immune system to target precancerous and cancerous cells in individuals with Lynch Syndrome (LS), according to a study from researchers at The ...
Jan 16, 2026
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Research reveals clues as to why standard antidepressants fail for so many
A study from the University of Sydney's Brain and Mind Center reveals new clues as to why standard antidepressants fail for many Australians, opening the door for more effective, personalized treatments.
Jan 16, 2026
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National genomic screening program could save thousands of Australians from preventable cancer and heart disease
Leading genomic health experts from Monash University are calling for urgent government funding to progress the development of a national preventive genomic testing program that would save thousands of Australians from conditions ...
Jan 16, 2026
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Reprogrammed skin cells shed light on HIV-related cognitive impairment
Using participant skin cells reprogrammed into neurons, Weill Cornell Medicine researchers have identified genetic signatures associated with HIV infection that may contribute to the cognitive impairment that often occurs ...
Jan 15, 2026
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New drug approach targets stress response in rare brain disorder PMD
A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according to findings published in Nature Communications.
Jan 15, 2026
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Huntington's disease: Treatments are finally on the horizon after recent advances
Huntington's disease (HD) has long been impossible to cure, but new research is finally giving fresh hope. HD is a progressive, hereditary brain disease that affects movement, cognition and emotions. Doctors often diagnose ...
Jan 15, 2026
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Trial reveals gene variant may affect prostate cancer drug efficacy
Data from a major U.S. clinical trial from the Alliance for Clinical Trials in Oncology has uncovered a genetic factor that may inform how to optimize the dosing of abiraterone, a widely used hormone treatment for advanced ...
Jan 15, 2026
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Fruit fly pigmentation guides discovery of genes that control brain dopamine and sleep
Dopamine in the brain influences movement, learning, motivation and sleep. In humans, problems with dopamine are linked to conditions like Parkinson's disease, depression and sleep disorders. While scientists know a great ...
Jan 13, 2026
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Mapping gene disruptions in sporadic early onset Alzheimer's disease across key brain regions
A new study led by researchers at UTHealth Houston investigated both gene expression and regulation at single cell levels to reveal disruptions in gene function in three brain regions of patients with sporadic early onset ...
Jan 13, 2026
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Two wrongs make a right: How two damaging disease variants can restore health
Scientists at Pacific Northwest Research Institute (PNRI) have overturned a long-held belief in genetics: that inheriting two harmful variants of the same gene always worsens disease. Instead, the team found that in many ...
Jan 12, 2026
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Genes that predispose an individual to pancreatic cancer identified
A new study by the National Cancer Research Center (CNIO) has identified several sets of genes related to the predisposition to develop pancreatic ductal adenocarcinoma (the most common type of pancreatic cancer), as well ...
Jan 12, 2026
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Whole-genome sequencing may optimize PARP inhibitor use for cancer patients
A whole-genome sequencing approach shows early promise over current commercial methods for identifying more patients likely to benefit from PARP inhibitor cancer treatments, according to a study led by Weill Cornell Medicine ...
Jan 12, 2026
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DNA testing of colorectal polyps improves insight into hereditary risks
For 10% of colorectal cancer patients, hereditary factors play a role, with higher percentages among younger patients. Research from Radboud University Medical Center and University Hospital Bonn (UKB) in collaboration with ...
Jan 12, 2026
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New mutations in TP53 gene drive resistance to p53-targeted cancer therapy
Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for therapeutics. Among them, the Y220C mutation is the ninth most frequent and it creates a small crevice ...
Jan 12, 2026
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International collaboration produces detailed models of the 3D genome over time in cells
In its effort to correlate genomic structure with gene function, the 4D Nucleome Consortium (4DN), led by Job Dekker, Ph.D., at UMass Chan Medical School, has extensively mapped and analyzed the three-dimensional folding ...
Jan 11, 2026
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Most Alzheimer's cases linked to variants in a single gene
Potentially more than 90% of Alzheimer's disease cases would not occur without the contribution of a single gene (APOE), according to a new analysis led by UCL researchers.
Jan 9, 2026
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Personalizing cancer treatments significantly improves outcomes in clinical trial
Researchers at University of California San Diego School of Medicine have led the first clinical trial in the world to show that cancer drug treatments can be safely and effectively personalized based on the unique DNA of ...
Jan 9, 2026
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Genetic study uncovers unknown causes of blindness
Researchers from Radboud University Medical Center and University of Basel have discovered new genetic causes of inherited blindness. Their study, published in Nature Genetics, shows that changes in specific pieces of DNA, ...
Jan 9, 2026
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Mapping proteins in African genomes reveals new paths to fight type 2 diabetes
Researchers have conducted the most comprehensive analysis to date linking plasma proteins to genetic variation in individuals from continental Africa. Their study addresses a long-standing gap by studying a population grossly ...
Jan 8, 2026
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How major nuclear protein complexes control specialized gene regulation in cancer and beyond
Precision and timing of gene expression is essential for normal biological functions and, when disrupted, can lead to many human diseases, including cancers. However, how molecular machines—protein complexes—that control ...
Jan 8, 2026
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