Gene Identification
Articles tagged with Gene Identification
New alliance clinical trial aims to improve outcomes in brain tumors
A new clinical trial will investigate whether adding the oral medication vorasidenib to standard chemotherapy improves progression-free survival for people with newly-diagnosed, grade 3 IDH-mutant astrocytoma. The study aims to recruit 400 individuals with this type of brain cancer and evaluate the safety and side-effect profile of the...
Eleven genetic variants affect gut microbiome
Researchers identified 11 genetic regions influencing gut bacteria and roles they play, including connections to gluten intolerance, haemorrhoids, and cardiovascular diseases. The study analyzed genetic data from over 28,000 individuals, providing insights into the complex relationship between genes and gut microbiome.
False alarm in newborn screening: how zebrafish can prevent unnecessary SMA therapies
A zebrafish model was used to test the functional significance of rare SMN1 variants in children with false positive SMA diagnoses. The research found that both variants were functional and did not cause the disease. This breakthrough could prevent unnecessary SMA therapies and provide families with security.
Kumamoto University Professor Kazuya Yamagata receives 2025 Erwin von Bälz Prize (Second Prize)
Professor Kazuya Yamagata received the 2025 Erwin von Bâlz Prize Second Prize for his groundbreaking research on pancreatic Ò-cell transcription factors and their role in monogenic diabetes. His work significantly deepens our understanding of β-cell function and diabetes pathophysiology.
Researchers identify genetic blueprint of mania in bipolar disorder
The study found that mania accounts for more than 80% of the genetic variation in bipolar disorder. The researchers identified 71 genetic variants linked specifically to mania, including 18 regions of genes that had never previously been associated with bipolar disorder.
Largest genetic study of schizophrenia and African ancestry reveals shared biology across global populations
A recent study published in Nature identified over 100 new genetic regions linked to schizophrenia that had not been previously discovered. These findings show that while specific genetic variants may differ across populations, the core biological mechanisms underlying schizophrenia are shared worldwide.
Novel liquid biopsy technology lowers barriers for more efficient cancer diagnostics
A new liquid biopsy technology, Bridge Capture, has been developed to overcome the challenges of sensitive and cost-efficient cancer diagnostics. It detects rare variant allele frequencies with superior sensitivity compared to existing methods.
ECOG-ACRIN and Caris Life Sciences unveil first findings from a multi-year collaboration to advance AI-powered multimodal tools for breast cancer recurrence risk stratification
Researchers developed multimodal models integrating imaging, clinical, and molecular data from TAILORx tissue biorepository for early-stage breast cancer. The models demonstrated enhanced prognostic performance compared to existing methods, highlighting their potential for personalized treatment decision-making.
New statistical tools sharpen the search for causal DNA changes in livestock
Researchers developed a new suite of statistical methods to pinpoint DNA changes responsible for important traits in livestock. The work addresses challenges in fine-mapping, especially in populations with closely related animals, and introduces tools that incorporate 'relatedness-adjusted' genomic correlations.
Study provides comprehensive insights into DNA language models
A study compares five DNA foundation language models across 57 diverse datasets to identify their strengths and weaknesses in predicting gene expression, identifying genomic components, and detecting harmful mutations. The findings highlight the importance of selecting appropriate models based on specific genomic tasks.
New technique maps genetic variants driving neurodegenerative disease risk
A new method developed by Penn State researchers improves the analysis of genetic data, identifying more genes associated with neurodegenerative diseases like Alzheimer's and ALS. The technique, BASIC, integrates both bulk tissue samples and single-cell data to uncover shared genetic effects across different cell types.
Golden retriever and human behaviours are driven by same genes
Researchers identified 12 genes linked to canine behaviour also associated with human traits like anxiety, depression, and intelligence. The study provides insights into understanding dog emotional worlds and tailoring training or care to suit their needs.
Two main gene discovery methods reveal complementary aspects of biology
Genome-wide association studies and burden tests identify different genes, with major implications for drug development. The study proposes two key features for ideal gene prioritization: importance and trait specificity.
Study links genetic variants to higher 'bad' cholesterol and heart attack risk
A new resource identifies genetic variants associated with elevated 'bad' cholesterol, a major contributor to heart disease. Clinicians can now predict patient risk for heart attacks and strokes, allowing for prevention and early treatment.
Global platform for pandemic preparedness to be established at DTU National Food Institute
The Global Pathogen Analysis Platform (GPAP) will enable low- and middle-income countries to conduct research and surveillance of infectious diseases independently. The platform aims to prevent disease outbreaks from developing into pandemics by detecting genetic sequences of potential pathogens.
Research Spotlight: Surprising gene mutation in brain’s immune cells linked to increased Alzheimer’s risk
Researchers discovered a gain-of-function mutation in the TREM2 gene that impairs microglial function and increases risk for Alzheimer's disease. The study found that female mice with the T96K mutation had reduced microglial activity, leading to increased amyloid beta accumulation.
Map of bacterial gene interactions reveals potential drug targets
Researchers have developed a new technique called Dual transposon sequencing to rapidly identify genetic interactions in bacteria. This method reveals vulnerabilities that could be targeted by future antibiotics.
Scientists trace origins of now extinct plant population from volcanically active Nishinoshima
Researchers analyzed seeds from a now-extinct plant population on Nishinoshima, tracing its lineage to nearby Chichijima island. The study found distinct genetic traits and a strong founder's effect due to limited seed dispersal opportunities.
Finding microproteins to treat obesity and metabolic disorders
Researchers at the Salk Institute have identified dozens of microproteins that play a crucial role in regulating fat cell proliferation and lipid accumulation. This breakthrough discovery offers new potential drug targets for treating obesity and metabolic disorders, building on recent advances in CRISPR gene editing technologies.
Large-scale study defines genetic architecture of stuttering
A large-scale study has identified 48 genes linked to stuttering, shedding light on the neurological pathways of risk. The findings suggest a shared genetic basis with autism, depression, and musicality, providing a foundation for future research.
What can tiny molecules in ants and naked mole-rats tell us about societal roles?
Researchers have discovered two signaling molecules that can reprogram ant duties, mirroring gene-expression patterns found in eusocial naked mole-rats. These findings suggest a convergent molecular mechanism dating back hundreds of millions of years, hinting at the evolutionary depth of social behavior.
Study finds better way to detect genetic factors in chronic kidney disease
QUT researchers create novel composite traits from UK Biobank data, identifying 50,000 biomarkers that outperform eGFR in detecting CKD. Their approach uncovers genetic signals missed by traditional methods.
Australian Academy of Science honors Murdoch University agricultural researcher
Rajeev Varshney, a Murdoch University professor, has been elected as a Fellow of the Australian Academy of Science. He is recognized for his groundbreaking work in genomics, genetics, and pre-breeding, helping to secure food production in the face of climate change.
New genomics tool accelerates biomedical breakthroughs
A new genomics tool, refget Sequence Collections, streamlines genomic research by standardizing reference sequences. This enables scientists to compare data more efficiently and accelerate medical breakthroughs.
Face processing abnormalities identified in autism dog model
A new study has revealed that Beagle dogs carrying mutations in the Shank3 gene exhibit face processing abnormalities, similar to those observed in human ASD patients. The research provides direct experimental evidence that mutations in Shank3 lead to ASD-like deficits in face processing, contributing to social impairments.
Scientists identify genes that make humans and Labradors more likely to become obese
Researchers found that dogs carrying the genetic variant DENND1B had higher body fat content, while humans also carry this gene linked to obesity. The study highlights the importance of fundamental brain pathways in regulating appetite and body weight.
Australian researchers call for greater diversity in genomics
A new study highlights the need for more diversity in genomics research, as a commonly found gene variant was mistakenly linked to heart disease in people from Oceanian communities. The researchers found that the variant is actually common among healthy individuals from these regions.
Pusan National University researchers developed an advanced AI model for accelerating therapeutic gene target discovery
The new AI model leverages hypergraphs to quickly and accurately identify therapeutic gene targets for diseases. HIT outperformed existing models in all tested metrics, demonstrating its accuracy in classifying therapeutic gene targets with great precision.
Scientists identify age-invariant genes that could transform aging research
Researchers from Yale University and Altos Labs have identified age-invariant genes that stay the same across all tissues during aging. These genes are linked to essential cellular functions, challenging the common belief that gene dysregulation drives aging.
AI accelerates discovery of neurodevelopmental disorder-associated genes
Researchers developed an AI approach to identify genes contributing to neurodevelopmental disorders like autism spectrum disorder, epilepsy, and developmental delay. The tool enhances gene discovery by predicting additional genes involved in these conditions.
Scientists discover gene linked to heart defects in children
Researchers identified a single gene, CIROZ, responsible for pediatric heart defects and abnormal organ placement. The study found that mutations in this gene can lead to severe heart defects at birth, emphasizing the importance of preventive strategies and curative therapies.
A new gene identified in the search for a therapy to treat malignant cardiac arrythmia
Researchers have discovered a novel gene therapy that can reverse conduction slowing and prevent cardiac arrhythmias by introducing the SCN10a-short gene into heart muscle cells. The treatment has shown promise in animal models and human cell studies, offering a potential solution for millions affected by arrhythmias worldwide.
Chinese scientists find key genes to fight against crop parasites
Researchers have identified two ABCG family SL transporter genes, SbSLT1 and SbSLT2, responsible for sorghum's resistance to Striga. Knocking out these genes inhibits SL secretion, preventing Striga germination and infestation. This breakthrough has wide-ranging applications in enhancing parasitic plant resistance across various crops.
Genetic research unlocks new ways to prevent and treat multiple long-term conditions
A large-scale study has identified genetic overlaps in 72 long-term health conditions associated with ageing, revealing opportunities for new prevention and treatment strategies. The research also found that specific genes are linked to co-occurring conditions, leading to a more personalized approach to care.
The deadly pathogen that decimated sea urchins in Eilat has now spread to the Indian Ocean
A deadly ciliate parasite has decimated sea urchin populations in the Caribbean, Red Sea, and Indian Ocean, with mortality rates reaching over 90%. The International team of researchers is working to track the disease and preserve sea urchins, which play a crucial role in maintaining coral reef health.
Blueberries beware: Powdery mildew spreading across the globe
A study by North Carolina State University reveals the global spread of powdery mildew fungus in blueberries, with a cost range of $47 million to $530 million annually to the industry. The disease is caused by the Erysiphe vaccinii fungus and has been found on multiple continents since its introduction in 2012.
Gene discovery sheds light on common ear condition in people with Down syndrome
Researchers have identified the gene DYRK1A as a key driver of 'glue ear' in people with Down syndrome, a middle ear condition commonly known as otitis media with effusion. The discovery paves the way for future targeted therapies to address hearing loss in patients.
These 11 genes may help us better understand forever chemicals’ effects on the brain
Researchers have identified 11 genes affected by PFAS exposure, which could serve as markers to detect neurotoxicity. The study found distinct molecular structures within each type of PFAS drive changes in gene expression, highlighting the need for individual investigation.
UTHealth Houston study reveals two new genes associated with variants linked to epilepsy, offering new hope for personalized therapies
Researchers at UTHealth Houston have discovered two novel genes, DYRK1A and EGFR, linked to genetic mutations causing epileptic brain lesions. This breakthrough offers a new framework for understanding epilepsy and developing targeted therapies.
Researchers have uncovered how foreign DNA can evade bacterial defense systems and neutralize them
A new study reveals that anti-defense genes near the DNA entry point enable plasmids to overcome CRISPR system, promoting genetic transfer between bacteria. This discovery could pave the way for developing tools to address antibiotic resistance and genetic manipulation methods.
Colored nuclei reveal cellular key genes
Researchers at the University of Bonn have developed an optical CRISPR screening method called NIS-Seq that allows for the identification of key genes involved in biological processes. This method is faster and more efficient than traditional methods, working in almost all cells and providing results in a matter of days.
Detailed bedbug genome analysis may improve pesticides
A new University of Texas at Arlington study provides a comprehensive genetic map of the common bedbug Cimex lectularius, enhancing scientific investigations into pesticide resistance and developing targeted pest control strategies.
New insights into genes' role in craniofacial development and genetic disorder
A team of experts has discovered that the ARID1A gene regulates a critical genetic program for cell migration, with ZIC2 identified as a crucial regulator in this process. This study expands our understanding of craniofacial development and provides valuable insights into the genetic causes of congenital diseases.
Discovery of gene linked to high-altitude adaptation may transform blood cancer care
Researchers discovered a gene variant in high-altitude Andean populations that can help predict the severity of certain types of blood cancer. The NFKB1 gene variant is associated with lower inflammation levels and better treatment responses in patients with myeloproliferative neoplasms.
New genetic explanation for heart condition revealed
A new study has found that hundreds of genes, rather than a single 'aberrant' genetic variant, contribute to the development of dilated cardiomyopathy. Researchers developed a polygenic risk score to assess individual risk and found those with the highest genetic risk had a fourfold chance of developing the disease.
Physicians at Le Bonheur and UT Health Science Center participate in $3 million NIH grant on childhood interstitial lung disease
Researchers are using genetic data from Le Bonheur and UT Health Science Center to better diagnose patients with childhood interstitial and diffuse lung diseases. The goal is to identify genetic causes and provide earlier diagnosis and treatment for this rare disease.
New molecular classification of gastrointestinal stromal tumors guides precision treatment
A new study introduces a multi-omics-based molecular classification of gastrointestinal stromal tumors, categorizing them into four distinct subtypes. The findings identify key genetic signatures and tumor suppressor genes that influence treatment response, providing a roadmap for personalized therapy strategies.
How hypoxia helps cancer spread
Scientists at Johns Hopkins Medicine identified 16 genes that breast cancer cells use to survive in the bloodstream, including MUC1, which is already in clinical trials. The research showed that hypoxic cells are able to migrate to higher oxygen levels and form metastasis in the body, leading to a worse prognosis.
Surprise! Japanese sardines astonish scientists by crossing the Pacific to the West Coast
Research reveals two species of sardine in the California Current, with Japanese sardines arriving on the West Coast around 2022. The discovery highlights the impact of marine heatwaves and changing ocean conditions on fish distributions.
Anne Bang joins $12.7 million research project on the genetic basis of autism and schizophrenia
A team of scientists, led by Anne Bang, is working to establish clearer connections between genes and their effects on brain function and mental health. They will use high-throughput screening technology to study over 100 genes in brain cells.
Advancing CRISPR: Lehigh University engineering researchers to develop predictive models for gene editing
Researchers at Lehigh University are developing predictive models for gene editing with CRISPR to improve outcomes and expand medical applications. The team is using AI and advanced computer models to simulate the effects of altering a single gene on the entire genome, enabling them to predict and avoid unintended consequences.
‘Forever chemicals’ linked to poor sleep among young adults in first-of-its-kind study
A study published in Environmental Advances found a significant association between four types of PFAS and poor sleep in young adults. The researchers identified genes involved in the body's natural defenses and a hormone that regulates sleep, shedding light on the underlying mechanisms of PFAS' impact on sleep.
Syrian hamsters reveal genetic secret to hibernation
Researchers at Hokkaido University have identified a key gene, glutathione peroxidase 4 (Gpx4), that enables Syrian hamsters to survive extreme cold by limiting cellular damage. The discovery could lead to new treatments for human health, such as improving organ preservation and using hypothermia as a therapeutic tool.
Groundbreaking study unveils new genetic syndrome linking brain development and neurodegeneration
Researchers identify a homozygous SPAG9 gene mutation associated with intellectual disability, progressive cognitive decline, and heterogeneous brain abnormalities. The study provides a unique model for understanding disruptions in cellular transport mechanisms leading to neurodevelopmental and degenerative brain conditions.
New mutation linked to early-onset Parkinsonism
A team of scientists has identified a new genetic mutation in the SGIP1 gene that may cause early-onset Parkinsonism. The mutation affects brain cell communication, leading to synaptic dysfunction and recessive Parkinsonism. This discovery provides new insights into the disease's development and potential treatment strategies.
Scientists discover important blood pressure 'switch'
Researchers at the University of Virginia Health System have identified a crucial biological switch that regulates renin production in certain cells, allowing them to control blood pressure. This discovery provides important direction for future research into high blood pressure and cardiovascular disease treatment.
Century-old experiment secures beer and whiskey’s future
A century-old experiment has pinpointed the genes behind barley's adaptability, enabling its continued survival in rapidly changing environments. Researchers identified key genes that enable flowering at optimal times, allowing crops to thrive despite increased temperatures and droughts.
Researchers develop analytical pipeline to identify unexploited genes that hold research value
A research team at Hiroshima University developed an analytical pipeline to identify unexploited genes associated with Parkinson's disease and oxidative stress. The study revealed two novel candidate genes, NUPR1 and UHRF2, which were absent from current gene-disease associations databases.
Genetic screening revolutionizes congenital heart disease detection
A recent study uses CNV-seq and WES to detect congenital heart disease, identifying genes contributing to CHD and increasing diagnostic yield. The combination of these technologies boosts detection rates for CHDs, improving prenatal management.