Articles tagged with Genetic Variation
A new multi-center study found that having a genetic variant in the prealbumin gene alone is not sufficient for diagnosing transthyretin amyloid cardiomyopathy in older Black patients. Researchers suggest that a blood test measuring prealbumin levels may be useful in identifying patients at risk of developing cardiac amyloidosis.
Researchers found a genetic link that explains how certain individuals store fat at the abdomen but remain protected from type 2 diabetes. This discovery could pave the way for personalized medicine, tailoring treatments to individual genetic variations.
The Oregon Health & Science University team's free genetic screening program for adults has screened over 13,000 residents since 2018. The study found that 710 participants carried disease-causing variants, highlighting the importance of genetic counseling and expanded gene testing.
Researchers identified 12 rare genetic variants associated with QT interval prolongation, increasing the risk of severe heart rhythm abnormalities and sudden cardiac death. These variants can lead to a more precise clinical approach through improved identification and risk stratification, aligning with precision medicine principles.
A study by the University of Essex found that top performers had a specific combination of 19 gene variants linked to running performance, resulting in an average improvement of 11.5% after just eight weeks of endurance training. Despite having the same training, those without these genetic markers showed little or no improvement.
A study led by UCSF researchers discovered that people who remain asymptomatic after contracting COVID-19 often carry a specific gene variation that helps their immune system recognize the virus. This mutation, HLA-B*15:01, is common among asymptomatic individuals and can also help those with symptoms to recover more quickly.
A study published in Nature Medicine found that genetic variants associated with autism are present in 4% of those with autism and 1% of the general population. These variants were linked to poorer cognitive performance, lower socioeconomic status, and educational level in undiagnosed individuals.
Researchers from Sanford Burnham Prebys have identified new genes that contribute to hypoplastic left heart syndrome (HLHS), a rare and life-threatening heart disease. The findings, published in eLife, bring scientists one step closer to unraveling the biology of this complex disease.
Researchers at UCLA Jonsson Comprehensive Cancer Center confirmed genetic variants of unknown significance are verified mutations that increase the risk of kidney cancer. The findings could lead to new treatment options for people with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Research by Professor Björn Schumacher investigates the role of male germ cells in genetic mutations. The study suggests that paternal DNA damage can lead to faulty repairs in the genome, resulting in structural variants.
A novel association of t(5;17) with t(8;21) has been reported in an acute myeloid leukemia (AML) patient, resulting in a RUNX1-RUNX1T1 rearrangement. The patient received chemotherapy and stem cell transplantation, highlighting the importance of this rare translocation.
Researchers found a correlation between somatic copy-number variants and schizophrenia, with genes NRXN1 and ABCB11 being identified as key players. These mutations occur early in development but after genetic material is inherited, and are present only in a fraction of cells.
A recent study has elucidated the genetic factors involved in systemic lupus erythematosus (SLE) development. The researchers found that HLA-DRB1*15:01 is primarily associated with SLE development in the Japanese population, suggesting its role in influencing disease progression. Furthermore, the study highlights the importance of anal...
Researchers discovered a genetic variant associated with faster disease progression in multiple sclerosis, linked to years of disability. The study provides new leads on addressing the nervous system component of MS and developing effective treatments.
A large international collaboration has identified a genetic variant associated with faster disease progression in multiple sclerosis, highlighting the need to focus on nervous system resilience and repair. The study found that individuals with two copies of the gene variant experience accelerated disability due to MS.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
Researchers identified 756 patients with rare forms of spinocerebellar ataxias (SCA), revealing diverse disease manifestations and symptoms. The study highlights the importance of sequencing the genome to improve diagnosis and treatment for these previously underdiagnosed cases.
Researchers developed a polygenic scoring system to predict ALS disease risk, improving case status prediction in Michigan and Spain. The system takes into account common genetic variants and explains 4.1% of ALS cases caused by genetic factors.
Scientists have identified a natural gene variant in barley that enables plants to flower up to 18 days earlier, allowing for improved adaptation to climate change. This discovery could lead to the development of climate-resilient barley varieties with stable yields.
A new study published in Sleep Health found that habitual daytime napping is associated with a larger total brain volume, a marker of good brain health linked to lower risk of dementia and other diseases. The research team used Mendelian randomisation to establish a causal link between napping and brain health.
Research identified three genetic risk factors for Dupuytren's contracture, a condition affecting fingers, that originated from Neanderthal DNA. The study, based on 7,871 affected individuals and 645,880 healthy controls, provides evidence of the intermingling between Neanderthals and modern humans influencing disease prevalence.
A team of scientists investigated how genetic variation is maintained in a species and its impact on adaptation. They found that a complex evolutionary process contributes to the persistence of both old and new forms of a chromosomal inversion in stick insects, potentially fostering long-term survival.
A new study reveals a previously unknown way the immune system detects certain viruses, including SARS-Cov-2, using the inflammasome protein CARD8. Researchers found that CARD8 functions differently among various species and even varies between individuals in the human population.
Researchers at The Hospital for Sick Children identified high densities of variants linked to blood pressure genes in the non-coding genome. The study uses massively parallel reporter assay technology to examine genetic variants and provides a functional map of regulators of blood pressure genes.
A study of tropical tree species found that older, slower-growing trees accumulate more somatic mutations, which can be transmitted to seeds, increasing genetic variation and adaptation. The rate of mutations per year is similar between the two species, suggesting a clock-like accumulation of mutations with age.
A new study by USC Dornsife researchers reveals the mung bean's evolution, migration and climate adaptation journey, with two distinct adaptations favored in specific geographic locations. The southern variant is characterized by larger seeds, while the northern variant exhibits drought tolerance.
Researchers have developed a self-teaching web app called BRIDGEcereal that quickly and accurately analyzes genomic data for cereal crops, identifying patterns of DNA variations. This breakthrough tool is expected to revolutionize crop improvement by efficiently mining publicly accessible cereal pan-genomes.
International researchers have identified nutrient-rich black rice varieties with improved agronomic traits, including shorter stem length and early maturity. These findings provide important resources for crop bioengineers to improve pigmented rice for human health and sustainable agriculture.
A large genome-wide association study identified novel PSA-associated variants and developed a polygenic score to correct for genetic variations in PSA levels. This approach improved biopsy referral decisions, reducing unnecessary procedures while detecting more aggressive tumors.
Researchers at the National Human Genome Research Institute identified a potential treatment for disabling pansclerotic morphea, a severe inflammatory disease. They found that patients with the disorder have an overactive STAT4 protein and significantly improved symptoms with ruxolitinib, a JAK inhibitor.
Researchers developed a computational approach to identify causal noncoding variants affecting blood cell trait changes. The study identified 69 mutations impacting transcription factor PU.1 binding, with 51 altering its site, suggesting a link between these variants and disease.
A new study maps French Canadian populations using a unique dataset of over five million records spanning 400 years, revealing the complex relationship between human migration and genetic variation. The research shows that the genetic structure of French Canadians is encoded within its genealogy.
A new study published in Nature Genetics examines the relationship between gene expression and ancestry, revealing ancestry-specific patterns of genetic architecture. The research analyzed whole genome and RNA sequencing data from African American and Hispanic/Latino children, exploring ancestry-related differences in gene expression.
Researchers discovered a genetic variant protecting against Alzheimer's disease alters levels of proteins and peptides linked to amyloid-beta metabolism. The APP A673T variant demonstrates effectiveness in shifting APP processing from beta-amyloidogenic to non-amyloidogenic pathways, offering a new feasible strategy for AD prevention.
Researchers found that apoE4 poorly binds factor H, a regulatory factor of immunity, leading to amyloid-β oligomerization and neuroinflammation. This could be a potential solution to preventing Alzheimer's disease, with further research needed to find a bridging molecule.
A new Northwestern University study finds that CT scans are more effective than genetics in predicting the risk of heart disease in middle-aged individuals. The study used data from over 3,200 adults and found that adding CT scan data to conventional risk factors improved the accuracy of risk prediction.
Recent studies reveal complex patterns of admixture in human populations, particularly in Africa and the Americas. In Africa, ancient introgression from Neanderthals and Denisovans contributed to increased genetic diversity, while in the Americas, modern admixture resulted in redistributed archaic ancestry.
A novel assay system has been developed to validate ECHS1 gene variants, enabling rapid diagnosis of mitochondrial diseases. The assay quickly pinpointed a new synonymous substitution causing a splicing abnormality in ECHS1 variants, providing a robust platform for variant interpretation.
Researchers found variant cells in lungs of IPF patients that can drive fibrosis and inflammation. These cells may be targeted for future therapy, offering new hope for treatment.
A new study reveals a unique founder population structure in Newfoundland and Labrador, tracing the ancestry of European settlers from South-East Ireland and South-West England. The analysis found multiple population bottlenecks and strong associations between Catholic background and Irish genetic ancestry.
Researchers discovered a new genetic variant in the Reelin gene that provides protection from Alzheimer's disease. The variant was identified through clinical assessments, genetic and molecular studies, and neuropathological analysis of two patients with a similar genetic predisposition to developing early-onset Alzheimer's disease.
Two NYGC research teams have been selected as grant recipients under the NIH Common Fund SMaHT Network. The first team will generate a high-quality somatic variant catalog leveraging three core sequencing assays, while the second team will develop innovative tools for studying somatic mosaicism using a single-cell multi-omics approach.
Researchers at the University of Illinois have identified strong correlations between SARS-CoV-2 cases and deaths, temperature, and latitude. The studies suggest that the virus is genetically encoded to exhibit seasonal behavior, which could be influenced by vaccine design.
A USC researcher and international team identified consistent DNA base pairs across 240 mammals, including humans, that play a key role in human disease. These 'constrained' base pairs remained generally consistent over millions of years of evolution and are significantly linked to genetic variation.
The Human Pangenome Reference Consortium expands and updates the human genome project with nearly full genomic data from 47 people of diverse ancestry. Researchers at UW Medicine made significant contributions to drafting the pangenome reference and studying variation within repetitive DNA, which could improve equity in human genome re...
Researchers from the ALFA Score Consortium explore how nutrition and physical exercise can positively impact the aging process by modifying epigenetic changes. They find that healthy aging is associated with more tightly condensed chromatin, fewer histone post-translational modifications, and greater regulation by non-coding RNAs.
MIT chemists develop rapid test to determine whether individuals have neutralizing antibodies against Covid-19, offering protection against future infections. The technique uses a fingerprint of sugar molecules to identify neutralizing antibodies in blood samples.
Researchers create high-resolution maps of the 3D genome, revealing interactions between enhancers and promoters that weren't previously seen. The findings suggest many genes interact with dozens of regulatory elements, opening possibilities for studying gene regulation and potentially understanding diseases.
Researchers at NIH have identified large-scale DNA changes, known as structural variants, that contribute to dementia risk. These variants were found in samples from patients with Lewy body dementia and frontotemporal dementia.
A devastating fungal disease, Fusarium wilt of banana (FWB), caused by Tropical Race 4 (TR4) is spreading in Mozambique, jeopardizing banana production. The Cavendish banana variety is highly susceptible to the disease, and lack of access to on-farm data hinders effective containment.
Researchers identify OmpU protein variants associated with antimicrobial resistance in Vibrio cholerae bacteria. Understanding the evolutionary origins of AMR can inform the development of effective therapeutics against resistant infections.
Researchers at The Wistar Institute have uncovered a key mechanism by which the p53 gene suppresses tumors. They discovered that a specific genetic variant, found in African Americans, triggers immune function that kills tumors.
A new approach, STING-seq, combines genetic association studies, gene editing, and single-cell sequencing to identify causal variants and genetic mechanisms for blood cell traits. This method can help scientists identify drug targets for diseases with a genetic basis.
A team of researchers from UNIGE and Beihang University has identified the FOXI3 gene as responsible for one form of Goldenhar syndrome, a rare congenital disorder. Pathogenic variants in both copies of the FOXI3 gene are necessary for the disease to develop, following an autosomal recessive inheritance pattern.
In people with Rett syndrome, nerve cells have a mechanism called transcriptional buffering to partially compensate for genetic changes. This process helps maintain healthy RNA levels and acts as a defence against genetic variations, suggesting a potential new molecular mechanism in human cells.
A multi-institutional study found that dengue virus sequences have evolved dramatically in India, with different serotypes deviating from their ancestral sequences. Dengue 2 has become more dominant across the country, while Dengue 4 is making a niche for itself in South India.
Researchers have identified mechanisms behind the emergence of new and contagious coronavirus variants by analyzing over three million genome sequences. The study found that concordant substitutions occurring at other sites influence the likelihood of a substitution occurring at a specific site, leading to unexpected variant emergence.
Researchers at UCL have identified proteins in the blood associated with an increased risk of developing heart diseases, including heart failure. The findings could lead to more refined cancer treatments that minimize cardiotoxicity and improve survival rates.
Researchers have created a new manual to study human diseases, using evolutionary genomics to analyze genetic risk. The manual reveals the importance of highly constrained genes that unite mammals, providing insights into neurological disorders and psychiatric conditions.
A study published in Clinical Pharmacology & Therapeutics has identified six single nucleotide polymorphisms associated with opioid use disorder. The findings suggest that genetics play a role in the development of OUD, but environmental factors also contribute to its progression.