Articles tagged with Genetic Variation
Researchers developed a dish-based model that replicates the characteristics of dry age-related macular degeneration, allowing them to screen over 1,200 drugs for their ability to slow or halt disease progression. Two drugs, Aminocaproic acid and L745, showed promise in inhibiting key phenotypes associated with AMD.
A Geisinger study found that adults with rare genetic causes of mental health disorders are more likely to have chronic illnesses like diabetes and dementia. The research also discovered that these individuals had twice as many annual emergency room visits compared to a control group without the genetic conditions.
A study published in PNAS found that individuals with severe schizophrenia have a higher number of rare mutations than those with typical forms of the illness. This discovery could lead to more precise treatments for this chronic disease, which affects over 3 million Americans.
Researchers have found that individuals with extremely treatment-resistant schizophrenia carry a higher burden of rare, damaging genetic variants than those with typical schizophrenia. This study suggests that focusing on patients with severe forms of the illness could improve the detection of disease-associated genetic variants.
Researchers found a rare genetic mutation in Black Americans is associated with an earlier onset of heart failure and a higher risk of hospitalization. The study suggests that early screening for the mutation could lead to faster treatment and improved outcomes for this vulnerable group.
Researchers found that dolphins have adapted to coastal life independently due to ancestral genes, which provide benefits for living in different environments. These genetic variations can be learned and passed down through generations.
Researchers have discovered new genetic variations associated with developmental stuttering, offering new therapeutic directions to improve outcomes. The study found that stuttering is polygenic, meaning multiple genetic factors contribute to and protect against the condition.
Genetic variants at 67 genomic regions were found to contribute to increased risk of age-related hearing loss. Visualized proteins reveal molecular components critical for sound conversion and transmission.
A Michigan Medicine study combined genetic samples from patients of different ethnic backgrounds, identifying two new psoriasis genetic signals. The inclusion of South Asian subjects allowed researchers to pinpoint several genetic variations within HLA genes that are likely to play a causal role in psoriasis.
A team of researchers used deep learning to analyze cardiac images and identified genetic variations linked to aortic size. The findings may lead to the development of a polygenic score to identify individuals at high risk of aneurysm, as well as new drug targets for aortic enlargement.
A large-scale genome-wide association study has identified a region on chromosome 7 containing DNA variations that increase the risk of attempting suicide. The study found overlap between the genetic basis of suicide attempts and related psychiatric disorders, as well as non-psychiatric risk factors such as smoking and sleep disturbances.
A new computational tool allows precise prediction of protein interfaces for COVID-19 and human interactions. This breakthrough enables researchers to better understand virus development, identify high-risk populations, and develop targeted drugs.
A new study at the University of Chicago has found that individuals of European and African genetic ancestry respond differently to influenza infection, with a stronger type I interferon pathway activation in those of European ancestry. This variation in immune response may contribute to disparities in influenza outcomes between differ...
New research reveals how genetic variations impact COVID-19 case severity, focusing on non-classical monocytes and their role in the immune response. The study identifies potential targets for therapies to boost immune cell function and improve disease outcomes.
Researchers at Tokyo Medical and Dental University discovered a genetic variant associated with a poorer prognosis of chronic hypersensitivity pneumonitis. The variant, rs5743899, was linked to increased immune activation and fibrosis, leading to reduced lung function in patients.
Researchers have found two genetic risk variants that may exacerbate the severity of sepsis and COVID-19 in African Americans, who carry nearly 40% of these variants. The study identifies potential pathways to reduce health disparities driven by these gene mutations.
A new study has identified the CCR2 gene as a key player in the progression of type 1 diabetes. The research found that lower blood levels of CCL-2, a ligand for CCR2, were associated with increased immune cell recruitment to the pancreas, leading to islet cell destruction.
The study provides insights into the genetic evolution and migration of chickpeas, offering a roadmap for improving the crop's nutritional value and climate resilience. Chickpeas are a main protein source for hundreds of millions of people worldwide, particularly in South Asia, Africa, and other parts of the world.
A genetic comparison of nearly two-thirds of the known species of rockfish pinpoints genes linked to their varying lifespans, which range from less than a decade to over 200 years. The study highlights trade-offs of long lifespan, including smaller populations and adaptations that increase survival
A new study has catalogued all possible genetic variations in over 3,000 chickpea plants to improve the crop's yield and resilience to climate change. The research proposes a breeding model using genomics-assisted breeding to enhance agriculturally valuable traits.
A new study finds that genetic testing for cardiomyopathies and arrhythmias simultaneously can detect conditions more accurately than single-condition tests. This leads to better diagnosis and treatment options, such as targeted therapies and monitoring devices.
A new study tracked the spread of a genetic mutation that causes young-onset heart arrhythmia across continents over centuries. The research found that the mutation was passed down from Northern Europe to other parts of the world through migration, and identified a specific gene, KCNQ1, as the cause of the disease.
A new study published in The American Journal of Human Genetics found that 76.3% of participants who received actionable genomic results were unaware they carried increased risk variants, even though half met clinical criteria for genetic testing. Comprehensive sequencing revealed previously missed variants, emphasizing the need for mo...
A study published in Current Biology found that a mutation affecting the expression of a key carotenoid pigment gene is responsible for the yellow color of some Darwin's finch nestlings. The genetic basis for this variation was poorly understood, but researchers were able to identify the underlying mechanism using modern genetic tools.
A research team from the University of Zurich has identified a common genetic variant in the AQP1 gene that affects treatment efficacy and patient survival on peritoneal dialysis. Patients carrying this variant have a higher risk of death, but researchers found a way to circumvent the problem using colloid osmotic agents.
A genomic study revealed causative gene variants for inherited retinal dystrophies (IRDs) in diverse populations, with significant findings for Mexican, Pakistani, and European American participants. The study identified new gene variants and mutations contributing to IRDs, shedding light on disease variation and presentation.
Researchers use handheld devices resembling ray guns to record how plant leaves reflect different wavelengths of light, revealing genetic variation within species. This new method is faster and cheaper than genetic testing, increasing efficiency in mapping and monitoring biodiversity.
Researchers have discovered three new genetic variants linked to fibromuscular dysplasia, which affects women in their prime and is often associated with high blood pressure and cardiovascular complications. The study provides new insights into the disease's genetic basis and potential therapeutic targets.
A new study identifies 13 genes as key factors in shaping physical fitness through various forms of exercise. Genetic differences account for up to 72% of the variation in muscle strength improvements.
A new study identified thousands of protein connections to various human diseases, suggesting a common origin in the genome. This approach linked genetic variations to specific proteins, providing insights into disease mechanisms and potential treatment strategies.
A new list of 546 expert-curated pathogenic variants in 84 genes has been developed for use in next-generation sequencing (NGS) genetic testing. This curated resource addresses the complexities of large assays and provides a scalable solution for test developers and laboratories.
Researchers from Washington University in St. Louis uncovered why hybridization among brown anoles is rare in their native range but common in new geographic territories. The study highlights the importance of environmental degradation in facilitating hybridization, which can contribute to biodiversity declines.
A computational framework will be developed to characterize how genetic variants work at the cellular level in psychiatric diseases like schizophrenia and bipolar disorder. The framework aims to integrate data from live and postmortem samples, humans and mice, to accurately pinpoint which mutations result in disorders.
Researchers will investigate the genetic and epigenetic factors controlling variation in health, with potential implications for combating cancer, obesity, and other diseases. The team aims to identify new sets of disease-related genes, delineate subtypes of disease, and understand the complex interaction between genetics and epigenetics.
A study analyzed genetic material from 86 discordant couples infected by SARS-CoV-2 and found associations between certain genetic variants and efficient activation of natural killer cells. These cells play a crucial role in the innate immune response, destroying infected cells to prevent disease development.
Researchers have identified a shortened version of the human growth hormone receptor gene, GHRd3, which may help people survive in situations where resources are scarce or unpredictable. The study found that this variant emerged around 1-2 million years ago and was more prevalent in ancient humans and Neanderthals.
A medieval Spanish individual, known as the 'Segorbe Giant,' has been analyzed using ancient DNA. The research found that he had a mix of North African and local Spanish ancestry, suggesting a complex history of migration and intermixing. This study sheds light on a dark event in medieval Spain's past.
A study by University of Utah biologists discovered a mutation in the ROR2 gene is linked to short beak length in domestic pigeons. This mutation also underlies the human disorder Robinow syndrome, which shares striking facial features with the pigeon phenotype.
The university will lead the data and administrative center for a multicenter project investigating how variations in the human genome sequence affect its function. Researchers aim to identify which genomic variants are relevant for health and disease, improving understanding of human health and developing new treatments.
Children genetically predisposed to overproduce lymphocytes in relation to other white blood cells are at higher risk of developing ALL, according to a new USC study. The research found that the ratio of lymphocytes to other key blood cells is significant in predicting leukemia risk.
Research suggests that overweight and obese asthmatic children are less likely to respond to inhaled steroid medication, leading to more frequent asthma attacks. The study used genetic variants linked to BMI to investigate this link, finding a correlation between higher BMI z-scores and poor ICS response.
A Mount Sinai study found that polygenic risk scores were no better at predicting worsening symptoms than written reports in schizophrenia patients. The results raise questions about the use of polygenic risk scores in real-world situations, suggesting a doctor's report may be an untapped source of predictive information.
A recent study found that Cavalier King Charles spaniels have an increased number of disease-causing mutations compared to other breeds. The breed's history of intense breeding and limited gene pool has led to the accumulation of harmful genetic variants, including those linked to myxomatous mitral valve disease, a common heart condition.
A new study from Uppsala University found that genetic tests are more accurate than traditional blood tests in determining the risk of cardiovascular diseases. The study analyzed data from 500,000 subjects and discovered a significant link between blood group genetics and coagulation proteins.
A recent study found that genetic risk scores can help diagnose epilepsy in individuals with a single seizure, distinguishing them from those with other causes. The researchers analyzed data from over 9,600 individuals with epilepsy-related diagnoses and found a significant correlation between genetic risk and epilepsy diagnosis.
A new study led by UCL researchers confirms that genetic inheritance has a significant impact on educational outcomes. However, the study also reveals that parent genes that aren't directly inherited can shape parents' education levels and subsequently influence their children's learning environment, affecting their academic success.
A new study has identified 20 genetic regions linked to face shape in East Africans, highlighting the importance of diverse populations in understanding human facial features. The findings also reveal that shared genetic factors contribute to similarities across populations, while population-specific variants drive differences.
Researchers assessed effectiveness of T-cell immune response to 11 SARS-CoV-2 variants, identifying HLA gene variants with significantly changed virus peptides. The T-cell COVID-19 Atlas portal (T-CoV) provides a comprehensive resource for understanding the impact of viral mutations on immunity.
A new study by Professor Danika Bannasch and colleagues reveals that five distinct dog coat patterns have an ancient origin, dating back over 2 million years. The research suggests that lighter coat colors would have been advantageous to an extinct canid ancestor in arctic environments during glaciation periods.
A team of researchers has cracked the code on dog coat color patterns by identifying five distinct genetic variants that cause different colors. These variants originated in an extinct species and were introduced into modern dogs through hybridization events.
A recent UNSW study found that women who received their polygenic risk score (PRS) for breast cancer experienced minimal regret and reduced distress compared to those who declined. The researchers also discovered that more women reported regret about not knowing their PRS score, highlighting the importance of providing clear informatio...
The study assembles 26 different genetic lines of corn, providing a comprehensive understanding of the crop's genetic mechanisms. This new reference data will help scientists identify genes likely to lead to improved crop performance.
Researchers have discovered a rare class of inherited genetic variants associated with autism, revealing new potential causes and pathways. These variants, less damaging than previously thought, contribute almost as much risk to the condition.
Researchers at USC have discovered a better way to identify elusive DNA variants that affect cell functions and diseases. The new method uses computational biology tools to detect variations in repetitive DNA sequences, known as VNTRs, which govern gene expression.
Scientists at the University of Cambridge have discovered rare genetic variants that substantially increase susceptibility to type 2 diabetes. These variants are carried by one in 3,000 people and significantly increase an individual's risk of developing the condition, six-fold.
A study found that certain genetic variants of MTHFR enzyme can increase folate deficiency risk, leading to neurological and heart problems. Researchers identified over 656 possible variants, including the common A222V variant, which affects enzyme function in subtle ways.
Researchers have discovered that variants in the SPTBN1 gene can alter neuronal architecture, affecting function and leading to a rare neurodevelopmental syndrome. The study provides important insights into the genetic basis of the disease and highlights potential therapeutic strategies.
A new study from Aarhus University found that over 80% of participants have more than three genetic variants affecting medicinal product metabolism, increasing the risk of reduced effect or side effects. Genetic tests can provide personalized treatment plans by analyzing multiple genes and variants.
A large genetic study suggests that going to bed earlier may be associated with a lower risk of major depression. The study found that one-hour earlier sleep timing corresponded to a 23% lower likelihood of having a major depressive disorder. Further research is needed to understand the mechanisms behind this effect and how shifting sl...
Researchers from iPSYCH have identified 33 new genetic variants associated with bipolar disorder, more than doubling the number of known genetic risk factors. These variants play a role in brain functions and signalling between nerve cells, providing potential ideas for new treatments.