Articles tagged with Genetic Variation
Researchers evaluate an integrated NGS system, delivering accurate diagnoses in under 24 hours and expanding targeted treatments available to patients with myeloid neoplasms. The assay identified 80-92% of genetic variants, demonstrating promising results for accelerating precision therapies.
Research by University of Cambridge scientists reveals that a rare genetic disorder, Gaucher disease, provides protection against TB due to an unusual fatty chemical that acts as a microbicide. The study suggests that Ashkenazi Jews, who are more susceptible to Gaucher disease, may be less likely to contract TB infection.
A study found white-tailed deer are harboring SARS-CoV-2 variants that were once widely circulated but no longer found in humans. The deer may have become infected through contact with humans, and the virus has adapted to the deer population, potentially making it more transmissible between them.
Researchers developed a computational analysis method to detect and identify somatic SVs in leukemia patients, gaining insights into molecular consequences and potential therapies. The approach enables understanding of individual somatic mutations and may lead to targeted treatments.
A Geisinger study found that genomic screening can help detect medullary thyroid cancer (MTC) in patients with RET gene variants. The research evaluated 75 patients who had the genetic results, and 12 were found to have cancer after undergoing surgery. Genomic screening provides opportunities for early detection and treatment of MTC.
A recent study found that DNA from domesticated chickens has been introgressing into the genomes of wild red junglefowl, leading to a loss of genetic diversity. The researchers estimate that wild birds have inherited 20-50% of their genomes from domestic chickens, which could make them less resilient to environmental changes.
A recent study published in Nature has discovered several new disease genes and provided new insights into the effects of known genetic factors on disease. The study highlights an underappreciated complexity in dosage effects of genetic variants, challenging traditional Mendelian inheritance laws.
Researchers at RIKEN Center for Integrative Medical Sciences discover genes and individual variations associated with atrial fibrillation, predicting stroke and mortality risk. They also uncover a potential treatment target, ERRg, involved in the pathogenesis of atrial fibrillation.
The FinnGen study has identified over 2,500 genomic regions linked to at least one disease, including previously unknown risk factors for common and rare diseases. The research highlights the power of Finland's unique genetic landscape and population history in driving novel discoveries.
In a mouse model of laser-induced CNV, RORα expression was highly increased in the choroidal/RPE complex post-laser, while loss or inhibition of RORα worsened CNV with increased lesion size and vascular leakage. RORα negatively regulates pathological CNV development by modulating angiogenic response and inflammatory environment.
A recent study found that genomic testing can identify genetic causes of childhood hearing loss and provide critical information on its clinical characteristics. The researchers detected variants responsible for hearing loss in 43 different genes, and the severity of hearing loss varied by gene.
A study found that individuals with the HLA-A*01:01 allele have developed robust T-cell immunity to COVID-19, suggesting a genetic predisposition to severe forms of the disease. The allele is more common in patients with mild or asymptomatic COVID-19.
A new study standardizes the use of optical genome mapping (OGM) for patients with blood cancers, demonstrating its potential as a frontline test for diagnosing hematologic malignancies. OGM outperforms existing tests in detecting cancer-causing gene variants and identifying additional information that can improve patient outcomes.
A recent study found that social support has a significant impact on depression risk, particularly in individuals with high genetic risk scores. The research used data from two groups: first-year doctors and recently widowed older adults, showing that those who gained social support during stressful times had lower depressive symptoms.
Researchers found that many changes to human DNA had opposing effects, with some variants making enhancers stronger while others made them weaker. This discovery has implications for understanding human evolution and the potential link between human DNA variations and psychiatric diseases.
Researchers have identified a new genetic pathway involved in regulating sleep from fruit flies to humans. The Pig-Q gene is associated with sleep regulation in both humans and animals, providing a novel insight into the genetics of insomnia.
Researchers developed a genotype-first approach that traces genomic variants back to genetic disorders, discovering new relationships between genes and clinical conditions. This approach broadened traits and symptoms associated with known disorders and offered insights into newly described disorders.
Researchers examined associations between APOE ε2 and ε4 alleles, polygenic profiles, and Alzheimer's disease biomarkers. They found links between ε4 alleles with plasma and CSF Aβ42 and CSF tau, as well as differences in associations with tau and Aβ42.
Researchers identified six genes associated with dementia risk in people of African ancestry, differing from those found in European populations. The study highlights the need for increased representation of non-European ancestry groups in genetic research to address health disparities.
Researchers have developed an improved genetic test that allows for more accurate prediction of which parent's genes led to an individual's increased cancer risk. The new test confirms whether a cancer predisposing gene variant is present in a patient and determines its origin, enabling targeted prevention efforts.
Black bears with a specific mutation in the TYRP1 gene have reduced eumelanin production, resulting in a cinnamon coat. The team found that this mutation arose spontaneously around 9,360 years ago in western US black bears and spread as they migrated across their range.
Researchers at the University of Bonn have uncovered new correlations between genetic mutations and cleft lip and palate. The study found that new mutations near the SPRY1 gene and transcription factor Musculin may contribute to disease risk, providing new insights into the biological mechanisms underlying the condition.
A recent study discovered a link between soluble urokinase plasminogen activator receptor (suPAR) and the development of atherosclerosis, a hardening of arteries that affects over a billion people worldwide. SuPAR was found to cause inflammation in blood vessels, leading to cardiovascular events and increasing risk of heart disease.
Research confirms a strong link between four genetic mutations and progressive multifocal leukoencephalopathy (PML), a rare but often fatal brain infection. Patients with these variants are at an increased risk of developing PML, highlighting the potential for genetic screening to reduce disease risk.
A Geisinger study of over 90,000 patients confirmed a strong link between genetics and neuropsychiatric disorders. The research revealed that approximately one in 100 participants carried a rare gene variant increasing the risk for conditions like schizophrenia and autism spectrum disorder.
Researchers from Japan have developed an RNA interference method using antisense oligonucleotides to correct a genetic defect in Fukuyama Muscular Dystrophy. This approach has shown promise in treating patients with the disease, which is characterized by generalized muscle weakness and intellectual disability.
A study found that genetic variants near ERAP2 and TICAM2 provided protection against Yersinia pestis, the bacterium responsible for the Black Death. These variants were also associated with improved detection and resistance to other pathogens, but at a cost: increased risk of autoimmune disorders like Crohn's disease.
Researchers at the University of Huddersfield used ancient DNA to reveal large-scale immigration in Early Bronze Age Orkney, contrary to popular belief. The findings also showed unusual female-dominated immigration during this period.
A study suggests that visceral fat cells, rather than subcutaneous fat cells, are more susceptible to infection by the COVID-19 virus. This increased susceptibility leads to a higher viral load and production of pro-inflammatory cytokines, which can exacerbate severe disease.
Researchers identified a genetic variant linked to digestive disturbances in patients with Chagas megaesophagus, a disorder characterized by esophageal dilation and loss of motility. The study suggests that increased interferon-gamma production leads to mitochondrial dysfunction, contributing to the development of the disease.
The study found that the Erfurt Jewish community was more genetically diverse than modern-day Ashkenazi Jews, with at least two distinct groups. The research team discovered that the founder event, which makes all Ashkenazi Jews today descendants of a small population, happened before the 14th century.
Research on Fanconi anemia reveals its link to aggressive head-and-neck tumors due to gene-copy chaos, increasing the need for new treatments. The study also highlights a connection between smoking and drinking and elevated cancer risk.
Gene variants associated with leukaemia produce 'rogue' killer T cells that drive autoimmune diseases, according to a new study. These rogue cells can cause autoimmune disease even at low levels, highlighting the connection between leukaemia and autoimmunity.
A study of over 1,000 healthcare workers found that medical masks may be as effective as N95 respirators in preventing COVID-19 infection. However, the results varied across countries and were influenced by factors such as vaccine use and variant circulating during the pandemic.
Researchers at the University Hospital Bonn have discovered a new function of CRISPR/Cas9 gene scissors, which produce small signal molecules that bind to proteins, activating an emergency response. This discovery opens up new possibilities for treating diseases using CRISPR technology.
Researchers have identified a tailor-made pocket feature in the spike glycoproteins of deadly coronaviruses, including SARS-CoV-2, MERS, and Omicron. This finding could lead to the development of a pan-coronavirus treatment that exploits this pocket feature to stop virus infectivity.
A new study explores the value of 'trash data' from cancer genome sequencing, identifying new strategies to uncover previously unexplored information. The researchers found that genomic and transcriptomic data contain relevant information that can help elucidate carcinogenesis and discover putative biomarkers with clinical applications.
Researchers have identified genetic variants associated with natural resistance to SARS-CoV-2, including a gene linked to mucin production. These findings may help develop vaccines and treatments for viral diseases by understanding the mechanisms underlying immune responses.
A research team at Pohang University of Science & Technology has developed a tailored neutralizer that can adapt to all kinds of mutations in the virus. The hybrid agent mimics the principle of hotspot interaction between the virus and the hACE2 receptor, inhibiting its penetration into cells.
Researchers identified five genetic variants that progressively increase the risk of becoming nearsighted with more schooling, especially for university-level education. These findings provide new insights into biological pathways causing nearsightedness and its interaction with lifestyle factors.
A large-scale analysis of over 2,700 species of anurans reveals that the vertebral stripe evolves repeatedly and is adaptive to the animal's habitat. The study identifies a key gene linked to the stripe pattern, which may allow species to adapt to environmental changes.
A novel HNF1A gene variant has been found to cause monogenic diabetes, affecting almost seven percent of all cases in Greenland. This discovery may pave the way for precision treatment using tablet therapy with sulphonylurea, offering a simpler and cheaper alternative to insulin.
Researchers from SickKids have uncovered new genes and genetic changes associated with autism spectrum disorder, including 134 linked genes and gene copy number variations. The study offers a better understanding of the 'genomic architecture' underlying this disorder.
The study reveals the structure of the 15-subunit IFT-B complex, a crucial component in cilia formation and maintenance. The complex's elongated and flexible nature is consistent with previous low-resolution reconstructions, and two configurations are identified that may drive bi-directional movement.
Research reveals natural genetic variation impacting brain development contributes to autism's diverse behaviors, with implications for tailored support. The study sheds light on the complex relationships between genetics, brain development, and behavior in individuals with autism.
Researchers identified a genetic variant that predisposes people to being slim, carried by 60% of Europeans. The variant affects the amount of fat stored in the body and is associated with the biochemical signalling pathway that tells cells what nutrients are available.
A genetic variant associated with a 10-15% reduction in fat storage has been identified in 60% of Europeans. Researchers studied the effect of this variant in mice and found it to be linked to leanness, highlighting the complex interplay between genetics and obesity.
Researchers developed STAARpipeline to analyze rare genetic variants, enabling comprehensive analysis of noncoding variants. The tool found significant associations in gene-centric and non-gene-centric analyses, advancing genetic research.
Researchers found that the presence of one Mindbomb1 mutation does not always lead to non-compaction cardiomyopathy, but depends on genetic context provided by other gene mutations. The study identified modifier genes contributing to disease severity and diversity in affected individuals.
A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning on or off genes, which led to the discovery of the cause of Congenital Hyperinsulinism. This breakthrough could unlock new causes of rare diseases and pave the way for improved treatments.
Researchers found elevated C4A levels in first-episode psychosis patients who later developed schizophrenia, correlating with increased IL-1beta and synapse density. This suggests a link between inflammation and genetic risk variants in schizophrenia.
A study published in PLOS Genetics found that genetic variants linked to systemic lupus erythematosus (SLE) may also provide protection against severe COVID-19 infection. The researchers identified TYK2, a gene involved in interferon production, as the key locus behind this protective effect.
A rare genetic variation in the X chromosome's TLR7 gene has been identified as a five times greater risk factor for severe COVID-19. The study, conducted across 12 countries, highlights the importance of host genetics in COVID-19 outcomes.
Two new discoveries led by Cedars-Sinai Cancer investigators improve understanding of ovarian cancer's development and suggest personalized therapeutic approaches. They identified four new genetic regions linked to increased ovarian cancer risk and found that some tumors may develop resistance to chemotherapy from an early stage.
Recent scientific studies have shed light on the effects of exposure to earlier SARS-CoV-2 forms on immune response to Omicron variants. Researchers identified a pan-variant antibody with ultra-potent neutralizing potency, which may help reduce treatment resistance.
Researchers at Massachusetts General Hospital analyzed data from March 2020 to June 2022 to assess the severity of SARS-CoV-2 Omicron BA.2 subvariant compared to earlier variants. The study found that BA.2 was associated with lower mortality rates and reduced need for hospitalizations, invasive ventilation, and intensive care admissions.
A genetic variant associated with low levels of HDL 'good' cholesterol and high triglycerides has been identified in Polynesian people. This discovery provides new insights into the genetic causes of high cholesterol and may lead to the development of more effective treatment options.
Researchers used machine learning to predict sugarcane yield based on DNA. The technique improved accuracy by over 50% compared to traditional breeding methods.
Research found that the Black Death drove changes in immune-related genetic variants, affecting disease susceptibility. A specific gene variant, ERAP2, was associated with increased protection against the plague, but also linked to autoimmune diseases like Crohn's disease.
Researchers identified unique mutations in the omicron spike protein adapted to the mouse receptor, suggesting possible animal origin. The findings also highlight the importance of epidemic surveillance of rodents to stop new COVID-19 variants.