Articles tagged with Genetic Variation
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Researchers developed a single-assay approach using exome sequencing data to detect large-scale pathogenic mutations, detecting 91 previously undetectable mutations. This shift could enable earlier diagnoses and save the NHS vital resources.
A genetic variant reducing IKZF1 expression increases B-cell ALL risk in Hispanic/Latino kids, with ancient DNA tracing its emergence ~13,000 years ago from Indigenous American ancestors.
A recent study by University of Colorado Boulder researchers sheds light on the interactions between genetic variants and their impact on smoking behaviors. The study found that certain gene variants can interact with each other and with Mr. Big, a widely replicated genetic variant associated with smoking behaviors.
Beneficial LOF mutations have been identified as potential targets for disease prevention, with drugs like PCSK9 inhibitors and ANGPTL3 monoclonal antibodies already approved or in clinical trials. New targets like ASGR1 and KHK are also being explored for lipid-lowering and fructose metabolism therapies.
A study from USC Keck School of Medicine reveals a genetic variant on the IKZF1 gene contributing to increased risk of acute lymphoblastic leukemia among Hispanic/Latino children. The variant increases ALL risk by around 1.4 times and may be linked to Indigenous American ancestry, according to researchers.
Researchers discovered a genetic mutation in humanin, a mitochondrial microprotein, that may help individuals with the APOE4 allele live longer and preserve cognitive function. The variant was found to reduce amyloid-beta buildup in the brains of mice engineered to express human APOE4.
A new study has identified 17 significant genetic variants linked to Alzheimer's disease in five genomic regions. The findings highlight the value of whole genome sequencing data in gaining long-sought insight into the ultimate causes and risk factors for Alzheimer's, which is the fifth leading cause of death among people 65 and older.
A new study found that both starting smoking and lifetime smoking may increase abdominal fat, especially visceral fat. Visceral fat is hard to see but raises the risk of serious illness. Researchers used genetic studies to determine whether smoking causes an increase in abdominal fat.
A new analysis published in Andrology found a higher genetic susceptibility to leisure computer usage was associated with a greater risk of erectile dysfunction in men. Each 1.2 hour increase in leisure computer usage predicted a 3.57-fold greater odds of erectile dysfunction.
NeXT Personal assay detects up to ~1,800 somatic variants specific to the patient's tumor with a detection threshold of 1.67 PPM and 99.9% specificity. The assay showed linearity over a range of 0.8 to 300,000 PPM.
The KAUST team developed an open-source platform to detect small DNA differences, revealing over 2 million previously overlooked genetic variants in rice and other crops. This tool will accelerate the discovery of genetic variations for developing crops with improved resilience and yield.
Researchers have identified genetic variants linked to cognitive control and social problems in schizophrenia, potentially paving the way for more effective treatments. The study found that these variants are not targeted by current medications, which often focus on dopamine pathways.
Researchers at MIT and University of Helsinki discovered a protein in human sweat that can protect against Lyme disease. A genetic variant of this protein is associated with increased susceptibility to the disease.
Researchers found that Black individuals carrying genetic variants in the Titin, TTN gene have a high risk of developing atrial fibrillation, heart failure, and dilated cardiomyopathy. The study used data from the All of Us Research Program to examine the role of these genetic mutations in African ancestry individuals.
Researchers have identified a genetic variant in SIRPβ1 gene that affects the immune system's response to beta-amyloid deposits, leading to altered Alzheimer's disease progression. The mutation has been shown to increase cognitive decline in early stages but slow it down in advanced stages.
Researchers at the University of Bergen have identified a new gene linked to primary familial brain calcification (PFBC), a rare neurodegenerative condition. The discovery provides new insight into how brain calcifications occur and may help explain the development of dementia.
Researchers linked red/processed meat consumption to increased colorectal cancer risk, highlighting two genetic markers (HAS2 and SMAD7) that alter cancer risk levels based on meat intake. The study analyzed data from nearly 70,000 people and found a 30-40% increased risk for those with high red or processed meat intake.
Melissa A. Kelly, co-director of Geisinger's MyCode Genomic Screening and Counseling Program, received the award for her work integrating genomic medicine into healthcare through Geisinger's MyCode Community Health Initiative. The initiative has reported over 5,000 medically relevant results to patient-participants, many of whom were u...
A genetic analysis of hospitalized Covid-19 patients found that a certain IL1RN variant protects men under age 75 from severe illness and death. The study showed that the protective gene variant, rs419598, is associated with lower inflammation and reduced mortality in men up to age 74.
Christiana Wang, a second-year PhD candidate, has been awarded the prestigious award for her platform presentation on antisense oligonucleotide therapy for a dominant negative SPTAN1 pathogenic variant. Her research aims to develop individualized therapy for treating rare genetic disorders.
A large-scale study found that individuals with haemochromatosis genes have higher levels of liver, musculoskeletal, and brain diseases, particularly after age 65. The research analyzed data from over 450,000 European Ancestry participants in UK Biobank.
Researchers create a technique using prime editing to quickly and easily screen cancer genes, revealing new information on p53 mutations. The method allows for the analysis of over 1,000 different mutations in the tumor suppressor gene p53, which are seen in more than half of all cancer patients.
Researchers found that T cells can reshape their memory and maintain diversity against COVID-19 variants in response to successive mRNA vaccinations. The study revealed a shift among clonotypes, with a change from early responders to main responders after the second shot, suggesting a new dominant population of effector-memory T cells.
Researchers identified a mechanism of 'copy-paste' genetics in Plasmodium falciparum that increases genetic diversity of surface proteins, potentially evading the human immune system. This discovery offers valuable insights for vaccine design and could help inform new approaches to preventing malaria.
Researchers have discovered two genetic variants associated with generalized pustular psoriasis (GPP), a rare and serious condition characterized by widespread skin lesions and inflammation. These variants, found in the MEFV gene, may hold promise for new diagnostic and therapeutic approaches to GPP.
Biologically motivated approaches prioritize genes linked to exposure for more reliable results. Genome-wide analyses can provide supporting evidence but are less reliable due to noise and signal weakening. Combining biology and statistics ensures accurate causal conclusions in Mendelian randomization.
A study published in Cancer Research Communications reveals a potential genetic marker associated with better survival outcomes in patients with head and neck cancer. The researchers found that the presence of a specific genetic variant and higher expression of the GAN gene product gigaxonin may contribute to improved survival rates.
A new study published in Oncotarget reveals a higher prevalence of germline BRCA1 and BRCA2 mutations in ovarian cancer patients from the Salento peninsula, with 28.6% having familial cases and 39.7% having sporadic cases. The study found that 29.8% of patients were carriers of BRCA1/2 mutation.
Scientists at UCSF discovered a new way to test for autism by measuring how children's eyes move when they turn their heads. Children with severe autism have an unusual form of the vestibulo-ocular reflex, which can be measured with a simple eye-tracking device.
A new study found that the link between paternal age and rare congenital disorders is more complex than previously thought. Researchers discovered that while older fathers are more likely to have children with certain bone and heart malformations, some genetic mutations associated with these conditions do not increase with paternal age.
Researchers developed scSNV-seq to investigate genetic changes affecting gene activity and disease development. The technique accurately assesses the impact of thousands of DNA mutations in cells, providing crucial insights for developing targeted therapies.
A new study reveals that genetic variants associated with hypertension can increase the risk of high blood pressure from as early as three years old. By analyzing health data from large population studies, researchers found that these genetic factors can significantly affect blood pressure levels throughout life and even beyond adulthood.
Researchers created novel gene editing enzymes with improved precision, reducing off-target RNA edits by over 99%. The technology has potential applications in treating mitochondrial genetic diseases and may lead to transformative treatments within the next five years.
A study has identified 1,289 genetic markers associated with Type 2 diabetes, including 145 newly discovered markers. The research provides risk scores for diabetes complications and suggests potential genetic targets for new treatments.
Researchers optimized polygenic risk scores using ancestrally diverse genomic data to improve accuracy across diverse populations. The recalibrated tests provided a more accurate assessment of disease risk for individuals with varied ancestral backgrounds.
A study co-led by Prof. Kelly Metcalfe finds risk-reducing mastectomies significantly reduce breast cancer risk and death probability in women with a BRCA1 or BRCA2 genetic variant. The procedure reduces the risk of breast cancer by 80% and decreases mortality to less than 1%.
A team of researchers used biopsies from young bulls to investigate the genes and mechanisms controlling male fertility. They found a large number of genes associated with fertility in bulls, most of which are also relevant to human male fertility.
A gene variant in Andean people is associated with reduced red blood cell count, enabling them to thrive at high altitude. The study aims to understand genetic differences underlying variation in oxygen saturation among COPD patients.
Scientists at Brookhaven Lab demonstrate new genetic strategy to boost plant oil content by protecting the oil-protector protein, resulting in 54% more oil accumulation in leaves and 13% more in seeds. This approach can increase biomass energy content and provide sustainable fuels.
Researchers have developed a new gene mapping technique that reveals how genetic alterations in cells lining blood vessels contribute to coronary artery disease. The technique, called Variant-to-Gene-to-Program (V2G2P), identifies biological mechanisms driving CAD risk by linking genetic variants to gene expression and function.
A new statistical model developed by UChicago researchers accurately identifies causal genes and variants for a disease. The tool reduces false positives and takes into account multiple genes and variants, leading to the discovery of 35 putative causal genes for LDL cholesterol levels.
Researchers identified 7 genetic variants associated with surgical rhizarthrosis and 3 variants linked to nonsurgical rhizarthrosis. These findings suggest a potential genetic influence on the need for surgery, hinting at biological mechanisms underlying the disease.
The Bay Area's Savannah sparrow subspecies is losing its unique adaptation to saltwater environments due to increased interbreeding with inland sparrows. Genetic analysis reveals a decline in the bird's genetic diversity, potentially affecting its ability to survive in tidal marshes.
Researchers found that hepatitis E virus (HEV) mutations made treatment with individual drugs less effective, highlighting the need for combination therapies. The study's findings also provide insights into the evolutionary dynamics of HEV, paving the way for next-generation antiviral treatments.
A new analysis focusing on people of African ancestry identified three gene variants linked to glaucoma, including two likely causal variants and one associated with cup-to-disc ratio. The study's findings could enhance early screening and personalized therapeutic interventions for this population.
Researchers have identified a significant link between inherited genetic variants and the development of rare blood cancer, myeloproliferative neoplasms (MPNs). Inherited genetic variants can influence whether a spontaneous mutation increases the risk of developing MPN.
Researchers discovered a link between PPFIA3 dysfunction and a rare neurodevelopmental disorder. The study identified 17 unique variants in the PPFIA3 gene, which cause delayed development, intellectual disability, and other symptoms.
A machine-learning enabled risk assessment model detects 72.8% of variants causing over 1,000 cases per million people within a week, increasing to 80.1% after two weeks. The model identifies key factors such as variant spike mutations and early infection trajectories.
The study found that solely the omicron variant influences cell cycle genes, leading to increased p21 expression and a senescence-associated secretory phenotype. This results in premature cellular senescence, potentially contributing to the reported cytokine storm and development of long-COVID.
Genetic material from Neanderthal ancestors may have influenced the preference for waking up early in some people. Studies found that introgressed genetic variants from Neanderthals are associated with increased morningness and a shorter circadian period, which is beneficial at higher latitudes.
Researchers developed an innovative machine learning tool, LoGoFunc, to predict pathogenic gain- and loss-of-function variants across the human genome. The tool distinguishes between different types of harmful mutations, offering valuable insights into diverse disease outcomes.
A study by researchers at the Medical University of Vienna found that natural killer cells may play a crucial role in protecting against multiple sclerosis (MS) disease. The investigation revealed that strong EBV-specific and autoreactive immune responses combined with poor autoimmunity control increase MS risk.
Researchers at Weill Cornell Medicine discovered a genetic variant in the GIP receptor that may help individuals resist obesity. The variant enhances insulin release and glucose metabolism, allowing mice with the variant to process sugar more efficiently and stay leaner.
Researchers found that a breakthrough infection builds upon existing memory B cell pool and introduces random mutations that prepare antibodies for new variants. Broad neutralizing antibodies can neutralize all tested Omicron variants.
Researchers have created the first extensive map showing which genetic changes can cause disease, leading to valuable insights into neurodevelopmental disorders and cancer. The study reveals that 90% of previously unexplained genetic changes' impact on health is significant, promising speedier diagnosis and new treatment avenues.
Researchers have developed gene-specific classification criteria for assessing the medical relevance of unclear genetic variants that can lead to hereditary colorectal cancer. The new criteria are expected to reclassify a significant proportion of these variants as harmless, providing relief to carriers worldwide.
A recent study by Goethe University Frankfurt has identified a mechanism that could be a suitable starting point for developing novel drugs against leukemia cells. The researchers discovered that the mutated NPM1 gene variant drives pro-autophagic activity, enabling cancer cells to recycle their structures and meet their needs.
Researchers examined venom genes in bees and other hymenopteran taxa using comparative genomics. They found that 12 'families' of peptides and proteins were present in all analyzed hymenopterans, indicating a common ancestor possessed these genes. This suggests that Hymenoptera insects are venomous as an entire group.
Researchers developed a non-invasive genetic test that can survey the entire fetal exome without amniocentesis. The test was able to capture inherited and new variants associated with prenatal diagnoses, demonstrating high sensitivity for discovering single-base DNA changes.
Researchers identified 38 unique pathogenic variants in 57 patients, including novel variants specific to the Kazakh population. These variants were associated with an increased risk of triple-negative breast cancer and family history of breast cancer.