Articles tagged with Genetic Variation
Antarctic icefish have evolved special adaptations to cope with extreme cold, including antifreeze glycoproteins and changes to the rhodopsin protein. These changes enable them to see under sea ice and adapt to red-shifted wavelengths in low-light conditions.
Researchers at Kyoto University have discovered a genetic mutation that causes lethal arrhythmia in humans. The study found that a novel variant of the CALM2 gene produces robust arrhythmogenicity in human-induced pluripotent stem cell-derived cardiomyocytes.
A new clinical RNA sequencing platform at SickKids is helping researchers understand complex genetic conditions and improve diagnosis for patients with rare diseases. The platform has been validated to be used in the clinical space, providing valuable diagnostic information that complements genome sequencing.
Researchers tracked the evolution of Staphylococcus aureus in patients with eczema, discovering rapid mutations in a gene that enables the bacteria to grow faster on the skin. These findings could lead to targeted treatments by targeting variants of S. aureus associated with eczema symptoms.
A recent study published in PLOS Biology identifies a global strain of emerging wheat disease fungus, highlighting the importance of genomic surveillance in tracking pathogen evolution and crop resistance. The research found that breeds of wheat carrying the Rmg8 gene are resistant to this fungal strain.
Tulane University researchers discovered a possible genetic cause of hypermobility and hypermobile Ehlers-Danlos syndrome, linking it to folate deficiency due to the MTHFR gene variation. Elevated folate levels in blood tests can aid in diagnosis, while methylated folate has shown promising treatment results for patients.
Researchers at Weill Cornell Medicine have identified an antibody that blocks infection by all dominant COVID-19 variants, including Omicron. The discovery could lead to new antibody-based treatments and more effective vaccines.
A major international study published in Nature Genetics has provided new insights into the genetics of preterm birth and pregnancy length. The research reveals a mutually antagonistic effect between the woman's and unborn child's genes, favoring earlier labor for the mother's survival and extending pregnancy for the child's weight gain.
A recent study from the National Eye Institute has discovered rare genetic variants that may be driving age-related macular degeneration (AMD), a chronic inflammatory response in the retina. The variants affect the stability of the membrane attack complex (MAC), which could lead to destructive inflammation and AMD progression.
Scientists have identified specific genetic variants in wheat and barley that enable plants to adapt to nitrogen deficiency by increasing root growth and improving nitrogen content. These findings offer promising opportunities for plant breeding to develop varieties with enhanced nitrogen use efficiency.
Researchers have created a new tool, EN-TEx, to analyze genetic mutations and predict disease risk. The catalog of allele-specific variants provides rich data for accurate personal genomics, enabling scientists to study the effects of genetic mutations in tissues that are difficult to obtain without surgery.
A rapid genetic testing model identified pathogenic variants in 51 patients with advanced prostate cancer, leading to discussions of possible treatment changes for 22 patients. The streamlined approach detected actionable gene variants eligible for newer targeted therapies in nearly half of patients with these variants.
A new study led by UCL researchers found evidence of ancient empires' impact on migration in Africa, revealing genetic traces from across the continent. The study used DNA data from over 1,300 individuals from 150 ethnic groups, identifying migrations linked to empires like Kanem-Bornu and Aksum.
A large case-control study identified nine genes associated with stomach cancer risk and found that pathogenic genetic variations exacerbate the damage caused by H. pylori infection, significantly increasing the risk of gastric cancer. The study suggests that screening for pathogenic variants can help prioritize interventions.
A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
Scientists at UvA have created a new, highly improved bright red fluorescent protein called mScarlet3. This variant combines maximum brightness with fast and complete folding, making it an ideal tool for researchers studying cellular processes.
Genome-wide studies reveal that early European farmers adopted more immune system genes from hunter-gatherers than expected, suggesting natural selection played a key role in adapting to diseases.
Researchers found that a large genetic region responsible for immune responses showed rapid evolution and more Mesolithic hunter-gatherer ancestry, suggesting that genetic variants already present in Europe were passed down preferentially. This suggests that diversity in immune genes may be just as important as adaptation to lifestyle.
A new study has created a comprehensive map of the human proteome, identifying over 1 million peptides from 17,717 different protein groups. The researchers also found that most alternative splicing detected at the RNA stage is also present in the proteins, validating long-held ideas about this process.
A protein called PI3K plays a crucial role in immune cell function, and genetic variations disrupting its signalling have been identified as the root cause of two immunodeficiency disorders. The study reveals how minor disruptions in immune cell signalling can lead to immune deficiency or dysfunction.
A research team from MedUni Vienna found that only neutralizing antibodies can inform us about protection against new infections. The study discovered a previously unknown weak point of the virus, which is a conserved site on the surface of the virus.
Researchers at Medical College of Georgia identified an increased prevalence of disease-causing genetic variants in females with unexplained infertility. The study found that 17% of these women had gene variants known to cause heart problems and cancer.
Geneticists used Ashaninka DNA to uncover a strong hint of a South-to-North migration that led to the transition from an archaic to ceramic culture in Caribbean islands. The study provides new insights into pre-colonial American history and highlights the importance of microgeographic studies.
A recent study published in JNCCN found that the lack of genomic research for people with African ancestry is hindering efforts to reduce disparities in prostate cancer outcomes. The researchers evaluated molecular genetic results for 113 Black South African men diagnosed with advanced prostate cancer, identifying 17 pathogenic and pot...
Researchers used UK Biobank image and genomic data to uncover insights into rare retinal dystrophies, a leading cause of blindness in working-age adults. The study identified new genetic associations with the thickness of photoreceptor cell layers, offering new avenues for research and diagnosis.
A recent study has identified nine new genetic variants that increase the risk of prostate cancer in men of African descent, including a variant linked to aggressive forms. The findings can be used to refine polygenic risk scores and identify high-risk patients for earlier screenings.
Researchers have discovered a gene mutation that can block chronic pain and provide protection against other stimuli, including heart and brain cells. The TRPV1 receptor mutation, found in avian species, was successfully transplanted into mice, showing reduced pain sensitivity and improved protective effects.
Phytochromes play a dual role in seed germination of Aethionema arabicum, stimulating but also inhibiting germination. The study reveals that high light intensity and duration inhibit germination, while short exposure favors germination, indicating a genetic basis for adaptation to environmental requirements.
A genomic study of 180 indigenous Africans provides new insights into human history, biology, and population diversity. The research sheds light on the origin of modern humans, African population history, and local adaptation, including traits such as skin color, heart development, and immunity.
Researchers at Arizona State University describe an innovative therapy using transient expression in tobacco plants to produce a monoclonal antibody against SARS-CoV-2. This class 4 mAb provides key advantages over existing treatments, including mutation resistance and universal protection against emerging variants.
CHOP researchers have identified variants of a chaperone molecule that can enhance the loading of peptides across different HLA types, which could be used in cell therapy and immunization applications. The study found that chicken-derived TAPBPR proteins can react with multiple HLA allotypes and stabilize the empty MHC-I groove, boosti...
The study reveals that genetic variation is preserved in a highly fragmented population of the Saimaa ringed seal. The unique shape of Lake Saimaa compensates for the detrimental effects of small population size, allowing the species to maintain its adaptive potential.
New research on malaria-infected bonobos shows that the infection harms them, too, with symptoms including fever and increased mortality risk. The study also finds that bonobos have a protective variant of an immune gene similar to one found in humans, suggesting a selective advantage for those individuals.
Two new papers demonstrate the use of Outbreak.info as a standardized source for COVID-19 data, tracking daily variant reports and a Research Library with aggregated research publications. The platform provides essential tools for researchers to track virus evolution and improve diagnostics.
A new study published in Genes, Brain and Behavior found that genetic variants in LINGO2, OAS1, and HECTD1 are associated with different mathematical abilities in Chinese children. The study refined genome-wide association studies of math skills and added population diversity to the literature.
A study found that the Omicron variant can dodge immune responses with just one or two dramatic mutations, while combinations of many mutations enable it to escape specific antibodies. The research suggests trade-offs between escaping immunity and maintaining infective capacity.
A recent study by the University at Buffalo has discovered that genetic variations affecting immunity and metabolism have been preserved in humans for millions of years. This finding supports the theory of balancing selection, which suggests that certain genetic traits can be beneficial or harmful depending on environmental conditions.
Researchers have identified three novel pathogenic variants of the ATR gene as predisposing to male breast cancer. These variants were found in a cohort of individuals with early onset and familial breast cancers, using a combination of exome sequencing and functional investigations. The study suggests that extended genetic analysis ca...
A new statistical analysis tool has uncovered the distribution and intermixing of Jomon hunter-gatherers and East Asian immigrant farmers in Japan. The study found that regions with higher Jomon ancestry are more prone to obesity, while those with higher East Asian ancestry are more susceptible to exacerbated asthma.
Researchers identified 91 genes associated with fat distribution in women, which may lead to metabolic health issues. The study found that a specific gene, SNX10, is linked to higher waist-to-hip ratios and cardiovascular disease risk in women.
A study found that an allele of the HLA Class 1 gene may protect individuals from severe COVID-19. The researchers compared the immune systems of patients in different waves of the pandemic and discovered a link between the HLA-A*01:01 allele and effective T-cell immunity against new variants.
A recent study published in Immunity reveals that human T-cell receptor genes exhibit unexpectedly high variability among individuals, with each person having a unique set of gene variants. The researchers identified 175 new gene variants originating from Neanderthals, which are present in up to 20% of modern humans in Europe and Asia.
Researchers developed an 'AutoPLP' technique to detect new variants of zoonotic pathogens. The tool uses computer program designs customized probes with specific sequences, yielding higher accuracy and efficiency in molecular diagnostics. This breakthrough could help rapidly combat evolving pathogen variants.
Researchers at Duke-NUS Medical School have devised a way to rapidly and precisely measure the length of a single telomere, opening doors to developing lifestyle interventions that slow ageing and prevent disease. The novel approach uses DNA sequences called 'telobaits' to latch onto the ends of telomeres in large pools of DNA fragments.
A new study found that E. coli K-12 has accumulated numerous genetic changes compared to its original isolated bacteria, making it less suitable as a model organism. This discovery highlights the rapid evolution of bacterial genomes and challenges the long-standing use of a single strain in research.
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.
Researchers at The Wistar Institute have discovered a gene signature that accurately predicts the functioning of P53 variants, enabling better assessment of cancer risk and optimizing treatment choices. This breakthrough knowledge could be used to screen individuals with genetic variants of P53 and inform them about their cancer risk.
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.
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.
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 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 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 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 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 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.
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.