Articles tagged with Genetic Variation
Researchers from Aarhus University identified seven genetic variants common to both autism and ADHD, as well as five specific to only one diagnosis. The study suggests a significant overlap in underlying genetic causes and may lead to more precise diagnoses and earlier interventions.
Researchers discovered a new genetic variation in old wheat varieties that enhances yield potential and resistance to yellow rust, potentially replacing current elite varieties. The findings also reveal possible new gene variants for resistance to yellow rust infestation, paving the way for more sustainable farming practices.
A study led by Dr. Hugo Bellen has identified a new syndromic intellectual disability caused by a spontaneous mutation in the MTSS2 gene. The research used fruit fly models to investigate the genetic alteration, which resulted in a functionally-altered MTSS2 protein leading to symptoms similar to those seen in patients with the condition.
This study reveals genetic insights into artificial selection and ecological adaptation in silkworms, identifying 468 domestication-associated genes and 198 improvement-associated genes. The pangenome dataset also sheds light on the origins of domesticated silkworms and their economic traits.
Researchers at the University of South Australia are using new technologies to speed up blood cancer diagnosis and treatment. The project aims to identify genetic variants that cause cancer, enabling clinicians to provide targeted treatments and improve patient management.
A study published in Science found that more than one-tenth of the world's terrestrial genetic diversity may already be lost due to climate change and habitat destruction. This could have serious implications for species' ability to adapt to climate change, highlighting the need for urgent conservation efforts.
A new study reveals key differences in dopamine disposal machinery between male and female mice with a rare human genetic variant found in boys with ADHD or ASD. Females exhibit unique behavioral changes, such as increased anxiety and novelty recognition issues, while males display reduced social behavior and perseverative traits.
Researchers discovered a genetic connection between individuals with a predisposition to smoking and poorer outcomes after an ischemic stroke. A meta-analysis of 12 studies found that people genetically predisposed to smoke had a 48% greater risk of poor recovery, supporting the theory that smoking causes worse stroke recovery.
A new study found that mice with the APOE4 gene variant were more likely to die from COVID-19, while those with APOE2 had increased virus replication and inflammation. The researchers also analyzed 13,000 patients in the UK Biobank and found that individuals with two copies of APOE4 or APOE2 were at higher risk of death from COVID-19.
A genome-wide study has identified two genetic variants and structural changes in chromosomes associated with posterior urethral valves, a condition that affects 1 in 4,000 males. The study highlights the importance of including diverse populations in genetic studies to identify genetic contributors to rare conditions.
Researchers at OIST Graduate University have experimentally shown the concept of a neutral network, vital for increasing diversity, by designing and testing over 120,000 RNA variants. They found a large number of accessible pathways between two variants, challenging previous theoretical predictions.
Geisinger Health System is conducting a comprehensive study on the genetic causes of cerebral palsy, funded by a $3.3 million NIH grant. The research aims to identify individual genes and regions responsible for the condition, which affects 1 in 500 people worldwide.
New research estimates the overall disease burden of genetic risk factors on healthy life years lost, prioritizing interventions using genetic information. The study found that common genetic variants for cardio-vascular diseases and Alzheimer’s disease have a substantial population-level impact.
A consortium of researchers from Vanderbilt University Medical Center, Stanford Medicine, and others aims to create a comprehensive atlas of genetic variants that cause heart disease. The project, funded by the National Health Lung and Blood Institute, will generate data on function for thousands of variants, helping guide treatment fo...
Research suggests that COVID-19 patients can transmit viruses with multiple genetic sequences simultaneously, which may impact the development of new variants. This complex sequence diversity highlights the need for continued research into the evolution and transmission of SARS-CoV-2.
Scientists at St. Jude Children's Research Hospital studied 36 families affected by Hodgkin lymphoma and identified 44 novel genetic variants linked to cancer predisposition, including PAX5, GATA3, IRF7, EEF2KMT, and POLR1E. The study provides new insights into the disease and may help identify potential targets for new treatments.
Researchers from Children's Hospital of Philadelphia used advanced mapping techniques to identify causal genes and target pairings in the pancreas linked to type 2 diabetes. The study revealed alpha and acinar cells play a greater role in disease development than previously thought.
Research using genetic variants as proxies for physical activity levels found a link between higher activity and lower invasive breast cancer risk. A higher overall level of genetically predicted physical activity was associated with a 41% lower risk of invasive breast cancer.
Researchers at Drexel University have developed a computer model that uses machine learning algorithms to analyze the genetic sequence of the COVID-19 virus and predict the severity of new variants. The model provides an early warning system for public health officials, allowing them to prepare accordingly.
A meta-analysis of genetic studies found a stronger link between blood types A and O and early stroke, suggesting that people with these gene variants may be more likely to develop blood clots leading to stroke. Those with blood type A had an increased risk and those with blood type O had a decreased risk compared to other blood types.
Research linked blood type to early-onset stroke risk in young adults under 60. People with blood type A had a 16% higher risk, while those with blood type O had a 12% lower risk of having an early stroke. The study suggests potential new ways to predict and prevent strokes in young adults.
A study found that genetically unrelated individuals with extreme facial similarities share common genetic variants, but differ in epigenetic and microbiome landscapes. The results suggest a molecular basis for human resemblance, with potential implications in forensics and biomedicine.
Researchers at Michigan Medicine have discovered a molecular mechanism that drives the disease-causing effects of the most common genetic risk factor for lupus. The study suggests that targeting this new pathway could lead to the development of safe and effective treatments for SLE, an autoimmune disease that affects millions worldwide.
Researchers analyzed genetic data from nearly 43,000 people with autism and identified a novel group of inherited genes of moderate effect. The study shows that these genes contribute to autism through inherited variants and are associated with other neurodevelopmental disorders.
A new UCLA-led study has identified multiple new risk genes for Alzheimer's disease and progressive supranuclear palsy (PSP) by combining new testing methods. The researchers used high-throughput testing to simultaneously test 5,706 genetic variants in 25 loci associated with Alzheimer's and nine loci associated with PSP.
A newly identified species of Liberibacter, a family of bacteria known for causing citrus greening disease, is rapidly evolving its ability to infect insect hosts. The research team found 21 genes associated with infectious qualities and identified mutations affecting pilus proteins that allow the bacteria to move into host insects.
A self-pollinating monkeyflower plant lost 13-24% of its genetic variation within nine generations when isolated from bumble bees. This rapid loss of genetic variation could have devastating impacts on the plant's ability to adapt to changing environments, highlighting the importance of pollinators for plant survival.
A team of researchers from The Mount Sinai Hospital has made a groundbreaking discovery into the genetic and molecular mechanisms that predispose individuals to Alzheimer's disease. They identified 21 candidate risk genes, including SPI1, which regulates microglia and AD risk.
A VA study found nearly identical genetic variations contributing to coronary heart disease risk across major racial and ethnic backgrounds. The findings suggest that other factors like access to healthcare contribute to higher heart disease rates in certain populations.
Researchers observed a decline in blue and yellow colouration among two blue tit populations over 15 years due to rising temperatures and falling rainfall. This change may affect mating patterns as traits like coloration serve as signals to indicate quality.
The study proposes a new statistical method to analyse population admixture, enabling more accurate determination of migration wave timing. The authors applied this method to Colombians and Mexicans, revealing two episodes of admixture in different time periods.
Researchers found that genetic variations in the serotonin 5-HT2A receptor impact its interaction with psychedelic drugs. Seven variants uniquely altered the receptor's response to psilocin, LSD, 5-MeO-DMT, and mescaline.
A study found that plant genetic variability controls specific microorganisms, influencing microbial community composition and plant reproductive success. The research used Arabidopsis thaliana genotypes and metabarcoding DNA sequencing to analyze the impact of genetics on leaf microbiota.
Scientists analyzed DNA sequence data from nearly 71,000 people worldwide and identified mutations in ACE2 and TMPRSS2 genes that affect protein expression, influencing COVID-19 susceptibility and severity. The study suggests a potential new diagnostic method based on host cell variation rather than the evolving virus.
Researchers analyzed germline variants in breast cancer patients to identify their role in metastasis development. The study found that host genetic makeup contributes to metastasis through dysregulation of gene expression, promoting the dispersion of metastatic seeds and establishing a conducive environment for their growth.
A study found that individuals with a rare genetic variant common in people of East Asian descent are at higher risk of vessel reclog during or shortly after endovascular therapy for ischemic stroke. The researchers analyzed data from 277 East Asian adults who received the treatment between 2011 and 2021.
Researchers found multiple gene variants contributing to pediatric NAFLD risk and disease severity, including novel SNPs associated with liver fibrosis. These genetic associations may guide future therapeutics for pediatric NAFLD, a chronic childhood disease linked to increased cardiovascular risk and mortality.
A new study reveals that the genetic variant APOE ε4 plays a major role in determining CTE severity, increasing the risk by 2.34 times. Researchers found that APOE ε4 carriers were more likely to develop severe CTE, particularly among older individuals with repetitive head impacts.
A new study found that specific gene mutations, such as LRRK2 and PRKN, may prolong survival time in Parkinson's patients, while SNCA and GBA mutations may shorten it. This could lead to more personalized treatment plans for patients with these genetic variants.
A new genetic disease has been identified that causes abnormal brain development in children, resulting in severe learning difficulties. Researchers have discovered the underlying cause of the condition by analyzing changes in a protein coding gene called GRIA1, which helps move electrical signals around the brain.
A collaborative team of scientists has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. The study provides definitive diagnoses to 21 families worldwide, offering new insights into the disorder's symptoms and treatment options.
A 30-year study by INRAE and ONF identified 34 oak populations with good combinations of traits as seed sources for plantings in France. Seed sources from regions with a long tradition of forestry have the best ecological and silvicultural traits, enabling the species to adapt to climate change.
A recent study found 13 genetic variants associated with disease in cats, more common than previously thought. However, these variants are declining in frequency in breeds regularly screened for the markers.
Research found a link between genetic variants that mimic statin medication effects and increased risk of developing cataracts. Genetic analysis revealed carriers of rare mutations in the HMGCR gene have almost complete protein inhibition, similar to taking statins.
A new study found that genes tied to perception of five basic tastes may influence diet quality and cardiometabolic risk factors. Researchers identified associations between taste-related genes with specific food groups and risk factors, suggesting personalized nutrition guidance could improve diet quality.
A Rutgers study predicts a woman's risk of miscarriage based on her genome, providing valuable insights for reproductive choices and fertility treatment plans. The researchers developed an algorithm using machine learning methods to identify genetic variants associated with aneuploidy in human eggs.
A genetic variant in nearly 30% of Greenlanders is linked to high cholesterol and an increased risk of cardiovascular disease. The variant, p.G137S, has a marked population-level impact, increasing the risk of high cholesterol and cardiovascular disease for up to 30% of the Greenlandic population.
Researchers have created a new electrical test to screen hundreds of gene mutations, pinpointing harmful mutations that cause inherited heart disorders and sudden death. The breakthrough can identify genetic variants associated with neurological conditions, muscle and kidney diseases.
A new study examines mathematical models designed to draw inferences about how evolution operates at the level of populations of organisms. The researchers conclude that such models must be constructed with care, avoiding unwarranted initial assumptions and weighing existing knowledge.
Researchers emphasize the need for targeted recruitment to make genetic tests clinically useful for non-European groups. By addressing cultural concerns and underrepresentation, efforts can reduce the incidence of variants of uncertain significance (VUS) in genetic databases.
Researchers at Karolinska Institutet found a link between genetic variants in diabetes drug targets and lower Alzheimer's disease risk. The study suggests that the target protein, KATP channel, may be a therapeutic target for treating and preventing Alzheimer's disease.
A new study reveals that combinations of multiple genetic factors determine the risk and severity of symptoms in Autism Spectrum Disorder. Researchers analyzed 37,375 individuals from 11,213 families to understand how rare mutations and common genetic variation contribute to ASD.
A recent genetic study found a link between height and lower risk of coronary heart disease, as well as higher risk for peripheral neuropathy and circulatory disorders. Being tall appears to protect against cardiovascular problems, but may increase the risk of non-cardiovascular conditions.
The study creates a catalogue of genomic diversity for endangered chimpanzees, allowing researchers to pinpoint the origin of confiscated animals within 100 kilometers. This information can support conservation efforts and combat the illegal trade of chimpanzees.
Researchers developed a genetic test that diagnoses primary immunodeficiency disorders (PID), revealing inherited genetic defects in nearly half of patients. The test uses next-generation sequencing technology to identify specific gene variants associated with PID, enabling targeted treatment and earlier intervention for family members.
A new study analyzed genomic data from global populations to identify genetic variants linked to COVID-19 severity. The investigation found dozens of genomic variations in critical genes, suggesting these may have evolved to protect against viruses similar to SARS-CoV-2.
A new study published in PLOS Genetics explores how genetics influenced an individual's quality of life during the COVID-19 pandemic. The research found that some people's genetic tendencies toward better wellbeing became more influential as the pandemic progressed, particularly due to social isolation.
Researchers at Uppsala University found that rare genetic variants contribute less to common diseases than previously thought. Common genetic variants with small effects play a major role in disease risk. High-throughput sequencing technologies are crucial for identifying individuals with pronounced genetic risks, suitable for precisio...
The 5th annual Mutational Scanning Symposium will take place in Toronto on June 13-14, bringing together experts to discuss key topics in personalized medicine and variant effects. Keynote addresses by Drs. Doug Fowler and Clare Turnbull highlight the importance of interpreting genetic variants for personalized treatment.
A large study has found six predictors that can help determine the optimal lithium dose for patients with bipolar disorder. The predictors include age, sex, kidney function, and medication use. The researchers hope to develop a digital app to aid psychiatrists in finding the right dose.