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Genetics
New genomic surveillance tools could help efforts to eliminate damaging parasitic infections
Researchers at Washington University School of Medicine in St. Louis have developed a new genomic-based approach that could aid global efforts to eliminate lymphatic filariasis, a parasitic roundworm infection spread by mosquitos. ...
8 hours ago
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Study reveals key role of TRIO gene in epileptic encephalopathies
What are the molecular and cellular mechanisms by which some babies develop epileptic encephalopathies and autism spectrum disorder? That's what researchers in Canada and France set out to uncover—and they think they've ...
21 hours ago
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Researchers develop insights into KRAS mutations in pancreatic cancers
A common mutation in the KRAS gene is associated with improved overall survival in pancreatic ductal adenocarcinoma (PDAC) compared with other variants, in part because the mutation appears to lead to less invasiveness and ...
Oct 2, 2024
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New genetic testing pathways could ensure patients get personalized BRCA-linked cancer treatments
Scientists have developed a new clinical pathway for testing for the cancer-causing faults in the BRCA gene that could ensure patients get the right treatment and boost the number of people who get tested.
21 hours ago
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Cutting corners results in rare genetic diseases being undiagnosed, say scientists
Inaccurate naming of genetic diseases is resulting in some rare genetic diseases needlessly being undiagnosed, University of Manchester scientists warn. A Nature Genetics communication paper, published today adds to existing ...
22 hours ago
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Gene activation linked to severity of a rare lung cancer
Pulmonary carcinoids are rare tumors of the lung with extremely different clinical courses. In many patients, they behave like benign tumors; surgical removal of the tumor leads to a complete cure. However, some patients ...
20 hours ago
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Unveiling genetic insights: How PAI-1 polymorphisms influence COVID-19 outcomes
Despite global vaccination efforts, COVID-19 continues to pose significant risks, leading to severe complications and fatalities. These risks are driven by disrupted coagulation, impaired fibrinolysis, which is the process ...
21 hours ago
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Research explores genetic treatment for rare arrhythmias
Variants in a gene that plays a key role in heart function can cause potentially life-threatening arrhythmia syndromes known as calmodulinopathy.
22 hours ago
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Scientists decode key mutation in many cancers, pointing to expanded role of RNA in human gene expression
Inside every cell, inside every nucleus, your continued existence depends on an incredibly complicated dance. Proteins are constantly wrapping and unwrapping DNA, and even minor missteps can lead to cancer. A new study from ...
Oct 2, 2024
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Scientists uncover genetic cause of rare autoimmune disorder
A team of international scientists has uncovered the genetic underpinnings of a rare, inherited autoimmune disorder, according to a study recently published in Science Translational Medicine.
Oct 2, 2024
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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 ...
Oct 1, 2024
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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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Categorizing the epigenetic hallmarks that define cancer
Cancer mortality has just surpassed cardiovascular disease for the first time ever and one in two men, and one in three women, will be diagnosed with some form of the disease in the US, according to the NIH.
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 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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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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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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