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Clinical genetics news
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 ...
14 hours ago
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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 ...
17 hours ago
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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 ...
15 hours ago
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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 ...
18 hours ago
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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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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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Hidden blood mutations linked to higher heart disease risk after cancer treatment
About one in five patients with cancer who undergo genetic testing are incidentally found to have mutations in their blood called clonal hematopoiesis of indeterminate potential (CHIP). A study by Vanderbilt Health researchers ...
Jan 8, 2026
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Shared genes may influence both artery calcification and bone density
A new study published suggests that the connection between coronary artery calcification—a measure of calcium buildup in the arteries—and bone mineral density may be driven in part by shared genetic factors, rather than ...
Jan 8, 2026
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Your genes determine how fast your DNA mutates with age, study shows
An analysis of genetic data from over 900,000 people shows that certain stretches of DNA, made up of short sequences repeated over and over, become longer and more unstable as we age. The study found that common genetic variants ...
Jan 7, 2026
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Natural 'decoy receptor' protects against inflammatory bowel disease, research reveals
In a study published in Nature Immunology on January 6, a research team led by Prof. Qian Youcun from the Shanghai Institute of Nutrition and Health (SINH) of the Chinese Academy of Sciences identified a new member of the ...
Jan 7, 2026
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Childhood deafness: Researchers identify over 200 mutations, including previously unknown variants
Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of syndromes associated with other symptoms, such as Usher syndrome type 1. In a study published in the Proceedings ...
Jan 7, 2026
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Small vessel disease found in young patients with Wilson's disease
A new study from Karolinska University Hospital and Karolinska Institutet in collaboration with Uppsala University Hospital and Uppsala University shows suspected small vessel disease in young patients with Wilson's disease. ...
Jan 7, 2026
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Shroom3 mutation linked to kidney scarring offers new drug target
Nearly 1 in 7 adults in the United States lives with chronic kidney disease, a condition that often advances quietly until serious damage has occurred. While diabetes and high blood pressure are well-known culprits, researchers ...
Jan 6, 2026
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The untold story of life with Prader–Willi syndrome, according to the siblings who live it
New research from the University of East Anglia (UK) reveals the hidden struggles experienced by the brothers and sisters of people with Prader–Willi syndrome.
Jan 6, 2026
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Brazil's genetic treasure trove: Supercentenarians reveal secrets of extreme human longevity
A Viewpoint published in Genomic Psychiatry by Dr. Mayana Zatz and colleagues at the Human Genome and Stem Cell Research Center, University of São Paulo, examines why Brazil represents one of the most valuable yet underutilized ...
Jan 6, 2026
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Schizophrenia and osteoporosis share 195 genetic loci, highlighting unexpected biological bridges between brain and bone
A comprehensive genetic investigation led by Dr. Feng Liu at Tianjin Medical University General Hospital has uncovered striking molecular connections between schizophrenia and bone health, identifying 195 shared genetic loci ...
Jan 6, 2026
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Schizophrenia-linked genetic variant renders brain receptor unresponsive to both natural and therapeutic compounds
A genetic mutation passed from mother to children in families affected by schizophrenia has now been shown to completely silence a brain receptor that pharmaceutical companies are racing to target with new drugs.
Jan 6, 2026
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How a rare genetic variant protects some people from developing blood cancers
Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most cancers, the cause is usually mutations in the DNA, which are genetic errors that accumulate as ...
CRISPR screen uncovers hundreds of genes required for brain development
Which genes are required for turning embryonic stem cells into brain cells, and what happens when this process goes wrong? In a new study published today in Nature Neuroscience, researchers led by Prof. Sagiv Shifman from ...
Jan 5, 2026
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Enzyme replacement therapy offers hope for ultra-rare Hunter syndrome
Ongoing clinical research at UNC could lead to a first-of-its-kind enzyme replacement therapy for Hunter syndrome, an ultra-rare disorder that causes progressive multisystem disease and neurologic decline.
Jan 5, 2026
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