Articles tagged with Genetic Variation
The world's largest study of cerebral palsy genetics found genetic defects are responsible for over a quarter of cases in Chinese children. Researchers identified 81 genes with causation mutations, indicating that improper brain development may be the underlying cause of cerebral palsy rather than lack of oxygen at birth.
Researchers identified over 500 functional non-coding DNA variants associated with chemotherapy resistance in acute lymphoblastic leukemia, a common childhood cancer. These variants were linked to a specific gene and mechanism of resistance, offering new insights into the underlying causes of treatment failure.
Researchers identified a spectrum of effects on sodium channel function due to SCN2A variants, with hyperactive channels linked to early seizure onset and underactive channels associated with autism. The study provides insights into the relationship between genetic changes, disease severity, and age of seizure onset.
A study found a significant association between the TNFSF15 rs4979462 gene variant and increased risk of systemic lupus erythematosus (SLE) in female patients. Higher TNFSF15 serum levels were also correlated with SLE disease activity, suggesting this protein could be a biological marker for the disease.
A study by Dr. Carolin Sommer-Trembo and her team found a strong correlation between exploratory behavior and habitat in African cichlid species. The researchers identified a genetic variant that makes fish more curious, which may have implications for understanding mechanisms of biodiversity and human personality.
A new study found that genetic variants in lysosomal genes may contribute to the development of Parkinson's disease in individuals exposed to high levels of pesticides. The research suggests a potential gene-environment interaction, where minor changes in these genes can lead to increased disease risk under stress.
Female cuckoos have two color variants: gray and rufous, linked to ancient mutations that emerged during the evolutionary arms race between host and cuckoo. The rarer color morph has an evolutionary advantage due to its rarity, causing genetic variation to be maintained for a long time.
Women with germline BRCA pathogenic variants face increased risk of mortality from postpartum breast cancer, particularly those diagnosed under 10 years after giving birth. The study highlights the importance of genetic counseling and tailored prevention strategies for these high-risk individuals.
Researchers highlight the risk of novel SARS-CoV-2 variants emerging due to prolonged viral replication in immunocompromised individuals. Close genomic surveillance and early diagnostic tests are crucial to mitigate potential public health threats.
Researchers have identified a rare genetic condition, Glutamine Synthetase Stabilization Disorder, which causes seizures and delayed development. The study found that genetic variants increase the stability of an enzyme producing glutamine, disrupting brain development.
Young breast cancer survivors without germline pathogenic variants are at lower risk for developing a second primary breast cancer within the first decade after diagnosis. This study informs treatment decision-making and follow-up care considerations in this population.
Researchers have identified new genetic variants linked to susceptibility of cervical cancer-causing virus, raising the risk of getting cervical cancer from high-risk HPV infection. The study found polygenic risk scores to determine likelihood of having prevalent or persistent HPV infections.
This study evaluated somatic copy number alterations (SCNAs) and mutation landscapes in malignant rhabdoid tumors before and after treatment. The results revealed recurrent SCNAs harboring genes involved in tumorigenesis, with some correlations between gene expression and tumor progression.
Researchers analyzed exome sequencing data from 773 affected individuals and 643 unaffected relatives, discovering a correlation between increased consanguinity and complex genetic disorders. The study created a population-specific database revealing unique DNA information unseen in larger cohorts.
A genetic variant affecting mitochondrial POLG enzyme function delays viral infection detection, leading to delayed severe inflammation and brain/liver damage. This mechanism explains variable ages of onset and manifestations of neurological diseases like MIRAS in patients carrying the variant.
The study revealed three genetically distinct populations of rusty-patched bumblebees, highlighting the need for tailored conservation efforts. The analysis showed low colony abundance and high rates of inbreeding, threatening the long-term viability of the species.
A recent study has identified two distinct viral variants circulating in India, one with a low number of genetic variations and another with a high number of genetic variations. The latter variant is similar to LSDV strains from an outbreak in Russia in 2015, which may have contributed to the severity of the disease.
A recent study discovered rare YKT6 gene variants as the cause of a new neurological disorder characterized by developmental delays, severe progressive liver disease, and a potential risk for liver cancer. The study found that these variants impair autophagy, leading to abnormal protein accumulation and cellular waste breakdown issues.
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.
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.
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.
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 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 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 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.
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.
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.
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...
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.
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.