Articles tagged with Genetic Variation
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A rare genetic mutation has been discovered that can explain why some people do not respond to newer schizophrenia treatments. The mutation, known as C182F, removes a structural bond in the TAAR1 receptor, blocking its binding site and rendering drugs ineffective.
Researchers discovered a crucial role of alternative RNA splicing in schizophrenia by identifying genetic variants affecting splicing and protein isoforms. The study highlights the significance of unannotated isoforms in disease pathogenesis and suggests potential avenues for targeted therapeutic strategies.
eQTLs modulate gene expression through various molecular mechanisms, providing insights into disease etiology. eQTL analysis has elucidated the functional relationship between genetic variants and complex traits in diseases such as RA, T2D, breast cancer, and SZ.
A recent study reveals that the specific genetic identity of rice plants determines which microbes they host and how those microbes function. The research found that differences among rice genotypes strongly shape microbial communities in both soil and on leaf surfaces, influencing nutrient cycling, plant health, and soil carbon storage.
Researchers at Flinders University discover a genetic mutation that silences a brain receptor, rendering it unresponsive to both natural trace amines and clinical drug candidates. The C182F variant eliminates receptor signaling and reduces cell surface expression, with profound implications for emerging psychiatric treatments.
A recent study from Medical University of South Carolina research team challenges the notion that hypermobile Ehlers-Danlos Syndrome is an isolated connective tissue disorder. The studies reveal a genetic variant associated with the disease and disruption of the immune system, which may be the underlying cause. This new understanding a...
A new study found that wood warblers have borrowed color-related genes from neighboring species, leading to the evolution of diverse plumage colors. This gene exchange, known as introgression, occurred across multiple genera and is believed to have played a role in the group's rapid diversification.
The American Society of Human Genetics (ASHG) is hosting the Genetic Diagnosis & Rare Disease Virtual Symposium, providing state-of-the-art methodologies in genetics and genomics research. Attendees can earn CME credits and engage with leading experts in rare disease diagnosis and genomic technologies.
A new USC study identified five genes linked to aggressive prostate cancer in people of African descent, including ATM, BRCA2, CHEK2, HOXB13 and PALB2. The researchers developed a method combining genetic risk scores with family history and specific variant presence for personalized monitoring and treatment strategies.
A novel 3D chromosome mapping method has been developed to detect hidden structural variants in DNA, revealing new discoveries for genetic disorders. The study successfully identified known large chromosomal variants with 100% concordance and uncovered 12 novel structural variants missed by standard clinical tests.
The Variant Workbench enables researchers to explore genetic data in a single, integrated workspace, linking genomic information with clinical conditions. By reducing data complexity, the tool facilitates scientific discovery and accelerates pace of research.
Researchers at Charité – Universitätsmedizin Berlin have developed a method to predict the effects of mutations in yeast by analyzing the proteome. The study reveals that small genetic mutations can have significant impacts on cell growth, especially under altered conditions.
A new research paper from Colorado State University finds that precipitation levels are the key environmental factor influencing genetic variation in the warbler's beak, which is crucial for heat retention. The study reveals that birds struggling to adapt to climate change experience higher stress levels and population declines.
A major albinism gene's exon skipping levels control human skin and hair color diversity. Researchers found that OCA2 exon 10 skipping contributes to hypopigmentation, shedding light on the genetic basis of human pigmentation.
A new study reveals that Indonesian cattle breeds carry a unique blend of zebu and banteng genetics, making them more genetically diverse than other breeds. This diversity could lead to improved disease resistance, productivity, and greenhouse gas emissions in cattle farming.
Researchers at Boston Children's Hospital have developed a new approach to lengthening telomeres using synthetic RNA. The technique, known as eTERC, has been shown to increase telomere length in human stem cells and leave normal cell mechanisms intact. Additionally, polygenic scores have been developed to estimate the combined effect o...
A new University of British Columbia study reveals that male guppies with more orange coloration are up to two times more sexually active and perform for females longer periods. The research identifies a genetic link between guppy color and behavior, suggesting healthier and fitter individuals may be more attractive to females.
Researchers developed Variant-aware Cas-OFFinder, a web-based tool that improves CRISPR accuracy by identifying off-target effects across genetic variations. The tool offers a significant step forward in personalized genome editing by incorporating genetic diversity directly into off-target predictions.
Researchers at Stockholm University have uncovered the evolutionary history of the Norwegian lemming, revealing it to be one of the most recently evolved mammal species. The study found that the Norwegian and Siberian lemmings diverged approximately 35,000 years ago, with no evidence of interbreeding between them.
A study of over 1,000 twins found that cognitive tests in infancy can predict adult intelligence and cognition, with environmental influences playing a significant role. Early life environments, including pre-preschool years, matter more than previously thought, suggesting potential interventions to support cognitive aging.
ADHD researcher Barbara Franke's work transforms understanding of neurodevelopmental disorders through innovative molecular approaches. Her research combines cutting-edge bioinformatics with experimental models to identify genes and pathways underlying behavioral differences.
A recent study on the Haenyeo divers from Korea found that they have distinct genetic adaptations, including gene variants associated with cold tolerance and decreased blood pressure. The researchers also discovered two unique gene variants in the Haenyeo population that may help them cope with the pressures of diving.
A predictive model combining tumor marker readings with patients' genetic profiles enhances predictions for patient survival and surgery decision-making. The new tool accurately identifies candidates who would benefit from surgery, suggesting that current tumor marker evaluations are inadequate for these genetic profiles.
A new study reports on five patients with Canavan disease who have a novel variant identified through targeted long-read sequencing, revealing an SVA_E retrotransposable element that disrupts gene function. The findings enhance genetic diagnostics and enable improved guidance for families.
Researchers analyzed DNA from four generations of a large family to understand genetic mutations and their transmission. They found that the rate of de novo mutations varied by over twenty-fold depending on genome location.
Researchers at MIT have discovered that a genetic variant can lead to defects in transfer RNA molecules, causing embryonic face cells to fail to fuse properly. This study sheds light on the molecular mechanisms underlying cleft lip and cleft palate formation.
Researchers employed a deep-learning-based method to detect footprints of DNA-protein interactions, allowing them to pinpoint disease-causing variants in non-coding regions. This approach could inform novel treatments for common diseases.
A recent study found that germline variants can significantly impact protein behavior in cancer cells, driving tumor development and progression. Researchers identified 119 rare and common variants in key cancer genes that alter protein structure and abundance.
A new global study found common genetic factors contributing to drug resistance in focal epilepsy, affecting 20 million individuals. Researchers identified specific genetic variants in CNIH3 and WDR26 genes associated with a higher risk of drug-resistant epilepsy.
Researchers have developed an innovative optical genome mapping technique that can identify structural variants and copy number variations across the entire genome in a single test. The method has been shown to reduce material requirements and improve prognostic stratification for patients with multiple myeloma.
A comprehensive natural history study of SCN8A-related disorders has been completed, revealing a range of seizure types and neurodevelopmental features. The findings identify potential targets for future clinical trials, including the use of sodium channel blockers to manage epilepsy.
Researchers used CRISPR interference to examine every gene in the human genome and discovered a new set of genes contributing to Parkinson's disease risk. The study identified the Commander complex, which regulates lysosomal function and is implicated in PD risk, offering opportunities for new treatments.
Researchers used genetic data and computational tools to identify genetic variants associated with asthma, finding differences between childhood- and adult-onset forms of the disease. The study provides insights into potential treatment targets for both types of asthma.
A group of long-lasting compounds called PFAS are ubiquitous in everyday products and the environment. Researchers hope to learn which ones are more toxic, and for whom, by using tiny worms to test their health effects.
Researchers have identified a new class of antibiotic that targets Neisseria gonorrhoeae, the bacterium causing gonorrhoea. The novel substance uses a unique mechanism to activate a self-destruction program in gonococci, killing the bacteria without harming other microorganisms or human cells.
Swedish researchers have identified 20 genetic variants associated with an increased risk of atherosclerosis, a leading cause of cardiovascular disease. The study used advanced imaging techniques to examine millions of genetic variants, providing new insights into the disease process and potential ways to prevent it.
A new study finds that Canada is the slowest country to report genetic information about bird flu, with an average time of 618 days. However, the same researchers note that Canada was able to improve its response to COVID-19, highlighting the need for similar urgency in addressing this public health threat.
Researchers have identified several key genes and pathways involved in the bovine response to Mycobacterium bovis, the causative agent of tuberculosis in cattle. The study found that genetic variation affecting the initial proinflammatory immune response contributes to bTB susceptibility.
Researchers developed CeSPIACE, a 39-amino-acid peptide drug candidate that binds to the spike protein, blocking viral entry. It demonstrates strong binding to major SARS-CoV-2 variants and shows efficacy against multiple strains in vivo and in vitro experiments.
Researchers discovered genetic variants in ITSN1 significantly increase Parkinson's disease risk, especially among rare mutations. The study highlights ITSN1 as a promising therapeutic target and underscores the value of large-scale genetic sequencing.
Researchers found that dogs carrying the genetic variant DENND1B had higher body fat content, while humans also carry this gene linked to obesity. The study highlights the importance of fundamental brain pathways in regulating appetite and body weight.
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
A study uncovered new genetic clues explaining why some prostate cancers grow slowly while others become life-threatening, identifying 223 mutations that determine tumor progression. The research shows germline and somatic variability work together to initiate and drive prostate cancer.
Researchers at the University of Malaga have identified multiple genetic variants causing Familial Chilomicronemia Syndrome, a rare disease characterized by high triglyceride levels. This discovery enables accurate clinical diagnosis and treatment selection for patients with this condition.
A new study discovered rare gene variants in Asian Indian people that increase the risk of Type 2 diabetes, providing a window into targeted treatment. The findings suggest that these variants can be used to create personalized medications that target specific proteins or pathways.
A new study found that Neanderthals experienced a drastic loss of genetic variation approximately 110,000 years ago, leading to their eventual extinction. The research measured the morphological diversity in semicircular canals, which revealed lower diversity in classic Neanderthals compared to pre-Neanderthals and early Neanderthals.
New study suggests that BRCA2 and ATM genetic variants are major contributors to prostate cancer progression, while BRCA1 variants do not seem to play a significant role. This finding may lead to refinement of genetic testing and personalized treatment for men with prostate cancer.
Researchers have identified a new variant, clade 1b, of the mpox virus that has become more infectious and is spreading rapidly across borders. The study found that this variant primarily spreads through heterosexual contact in densely populated areas, with an estimated fatality rate of 3.4%.
Researchers from University of Leicester identified genetic variants linked to successful smoking cessation using varenicline. The study sheds light on the biological processes involved in responding to the drug.
A new gene therapy has shown promise in treating a rare form of epilepsy, specifically Dravet syndrome, by replacing the SCN1B gene variant. The therapy increased survival rates, reduced seizure severity, and restored brain neuron excitability in mice with the condition.
Researchers at the Institut Pasteur have gained a better understanding of how mpox variants become resistant to tecovirimat. They found that the drug works by binding two phospholipases together, preventing viral particles from spreading. This knowledge will help develop new antiviral treatments effective across all mpox strains.
Researchers identified genetic variants underlying climate adaptation in Marchantia polymorpha, a type of moss that thrives in diverse environments. The study's findings provide insight into the genetic underpinnings of plant climate adaptation and offer a powerful platform for future research on plant growth and development.
A comprehensive genetic analysis of East Asian populations has identified key SORL1 genetic variants that confer protective effects against Alzheimer's disease. Individuals carrying these variants exhibited improved cognitive function, decreased neurodegeneration, and less severe AD pathology.
Researchers developed a new approach to quickly identify mutations that enable viral immune escape. By analyzing the effects of individual mutations in reverse, they found three key mutations in the spike protein responsible for immune evasion.
A new study reveals that long-read sequencing can diagnose rare genetic diseases more accurately, quickly, and affordably. By analyzing longer stretches of DNA, this technology eliminates gaps and provides direct phasing data, improving the diagnostic yield of genetic sequencing.
Genetic testing using high-throughput sequencing (HTS) technology has significantly improved detection rates for thalassemia, offering a valuable model for high-prevalence regions. HTS-based genetic testing offers greater sensitivity and specificity without adding significant costs.
A study published in Nature Metabolism found that four percent of Greenland's Inuit population has a gene variant that increases their risk of type 2 diabetes by tenfold. Exercise has been shown to increase insulin sensitivity in these individuals, suggesting it may be an effective way to reduce their risk of developing the disease.
Researchers identified a novel genetic risk factor for SARS-CoV-2 infection, linking a PTPN2 variant to increased ACE2 expression and susceptibility. The study suggests Tofacitinib may mitigate this risk, offering new treatment options for patients at higher genetic risk.
A multi-institutional study led by Mayo Clinic researchers has improved the accuracy of genetic testing for BRCA2 variants, enabling precise risk assessments and personalized treatment plans. The findings will aid in identifying patients who may benefit from targeted therapies such as PARP inhibitors.
Researchers at UTHealth Houston have discovered two novel genes, DYRK1A and EGFR, linked to genetic mutations causing epileptic brain lesions. This breakthrough offers a new framework for understanding epilepsy and developing targeted therapies.