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Genetics news
Oncology & Cancer
Hereditary colorectal cancer: Researchers reclassify a large proportion of leading gene variants as benign
The genetic confirmation of a suspected diagnosis of hereditary colorectal cancer is of great importance for the medical care of affected families. However, many of the variants identified in the known genes cannot yet be ...
18 hours ago
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Bioinformatics techniques uncover hidden prevalence of repeat expansion disorders
Research led by scientists at Queen Mary University of London is signaling a new era for genetic sequencing and testing. In the largest study of its kind to date, published today in Nature Medicine, an international group ...
Oct 1, 2024
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Genetic variants linked to Alzheimer's trigger brain inflammation in females, preclinical study finds
Weill Cornell Medicine investigators have found that two genetic variants that confer high risk of Alzheimer's disease (AD) together trigger a harmful inflammatory response in the brain's immune cells, particularly in females, ...
Sep 30, 2024
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AI promises to ramp up PCR tests for faster DNA diagnostics and forensics
Promising new inroads into critical DNA testing has been forecast by Flinders University experts who have applied machine learning to DNA profiling.
Sep 30, 2024
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Genetic link between bipolar disorder and epilepsy unveiled
A team of researchers from the Chinese Academy of Sciences has uncovered compelling evidence of a genetic link between bipolar disorder type I (BD-I) and epilepsy, potentially transforming our understanding of these complex ...
Sep 30, 2024
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Study unveils new genetic syndrome linking brain development and neurodegeneration
Researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases. The study, published in Genomic Psychiatry, details ...
Sep 30, 2024
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Study uncovers the role of polygenic risk scores in hypertension management
Physician-scientists from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine have new insights into the role of genetic risk scores in guiding treatment for hypertension, or high blood pressure.
Sep 30, 2024
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Prostate cancer: Family history, genetics and your risk
If you've been diagnosed with prostate cancer, exploring what may have contributed to your cancer might not be at the top of your list. However, learning about your family history and the genetic characteristics of your prostate ...
Sep 30, 2024
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Distant relatedness in biobanks harnessed to identify undiagnosed genetic disease
An innovative analysis of shared segments within the genome—an indication of distant "relatedness"—has identified undiagnosed cases of Long QT syndrome, a rare disorder that can lead to abnormal heart rhythms, fainting ...
Sep 28, 2024
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Researchers discover what hinders DNA repair in patients with Huntington disease
Researchers with McMaster University have discovered that the protein mutated in patients with Huntington disease doesn't repair DNA as intended, impacting the ability of brain cells to heal themselves.
Sep 27, 2024
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Two proteins involved in centrosome function linked to congenital developmental disorders
Centrosomes are small structures in cells with many essential functions, including roles in cell signaling and in organizing a cell's cytoskeleton. Centrosome dysfunction contributes to diseases like cancer and congenital ...
Sep 27, 2024
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Study reveals critical role of tRNA modifying enzyme in brain function
A study conducted by a research team from Kumamoto University has shed light on the critical role of a tRNA methylation enzyme, TRMT10A, in supporting brain function. The findings reveal how the absence of TRMT10A leads to ...
Sep 27, 2024
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The gut microbiome can influence hormone levels, mouse study shows
Researchers at the Francis Crick Institute have shown that the balance of bacteria in the gut can influence symptoms of hypopituitarism in mice. They also showed that aspirin was able to improve hormone deficiency symptoms ...
Sep 26, 2024
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Genetic background of pregnant women can influence non-invasive prenatal test results
Non-invasive prenatal tests (NIPTs) are increasingly an integral part of screening during pregnancies across the world. Research from Amsterdam UMC shows that a pregnant woman's genetic background influences the effectiveness ...
Sep 26, 2024
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Large-scale study confirms well-established cancer risk factors and identifies new ones
Researchers have examined thousands of genetically defined traits to identify possible causal relationships for eight common cancers. The team evaluated data from more than 860,000 people to uncover potential factors in causing ...
Sep 26, 2024
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Scientists discover mutation linked to early-onset Parkinsonism
A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The research has been published in Cell Reports Medicine.
Sep 26, 2024
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Scientists discover gene responsible for rare, inherited eye disease
Scientists at the National Institutes of Health (NIH) and their colleagues have identified a gene responsible for some inherited retinal diseases (IRDs), which are a group of disorders that damage the eye's light-sensing ...
Sep 26, 2024
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Genetic mutations in HRAS, KRAS genes linked to childhood cancers
Hereditary changes in genes are often the cause of rare diseases. For example, disease-causing gene variants (PVs) in the HRAS gene cause Costello syndrome and PVs in the KRAS gene cause Noonan syndrome and cardio-facio-cutaneous ...
Sep 26, 2024
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World's first individual gene mutation test for predicting risk of sudden cardiac death
Scientists at the Victor Chang Cardiac Research Institute, working with colleagues at the Vanderbilt University Medical Center, have developed a world-first, individualized risk prediction tool for people suffering from a ...
Sep 26, 2024
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Polygenic score database updates increase diversity and usability of genetic data
Important new updates to the largest open database for polygenic scores, the Polygenic Score (PGS) Catalog, could help to generate more equitable disease risk predictions for a diverse range of ethnic backgrounds.
Sep 26, 2024
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Identifying sex differences in genetic vulnerability to psychotic disorders
A team of researchers from the University of Barcelona and the Centre for Biomedical Research in the Mental Health Network (CIBERSAM) has published a study that reveals significant findings in the field of genetic psychiatry ...
Sep 26, 2024
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Researchers establish largest stem cell repository focused on centenarians
Individuals who display exceptional longevity provide evidence that humans can live longer, healthier lives. Centenarians (greater than 100 years of age) provide a unique lens through which to study longevity and healthy ...
Sep 25, 2024
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Study provides new insights into development of ovarian follicles and previously unknown variations
A recent study published in Nature Communications by researchers at Karolinska Institutet offers new insights into the development of ovarian follicles, which are vital for female fertility as they contain oocytes.
Sep 25, 2024
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Stem cells map reveals molecular choreography behind individual variation in human development
Researchers at the Johns Hopkins University School of Medicine have mapped variation in human stem cells that explains how cells of an individual may shape a unique "developmental dance" at the molecular level, thereby controlling ...
Sep 25, 2024
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