Researchers uncover hidden populations of aggressive cancer cells in children with non-high-risk rhabdomyosarcoma, revealing gene expression patterns similar to high-risk tumours. The study identifies rare genetic changes affecting cellular pathways, suggesting multiple genetic routes leading to aggressive tumours.
A new open resource of cancer models has enabled researchers to create the first large-scale map of the genes that cancers rely on to survive. The biobank, developed by the Wellcome Sanger Institute and collaborators, reveals potential weak points that could be targeted with future treatments.
A new study identified genetic changes in wild populations of the parasitic worm that causes schistosomiasis, which may reduce its response to praziquantel. The findings highlight the need for ongoing genomic surveillance to protect the long-term effectiveness of praziquantel.
Researchers have discovered a genetic marker associated with more severe IBD, enabling earlier treatment and monitoring for patients at risk. The study analyzed data from over 43,000 patients and found that a specific combination of genetic variants is linked to severe disease outcomes.
Researchers mapped gene activity changes across over 1 million gut cells from patients with Crohn's and healthy controls, identifying key drivers of inflammation and potential therapeutic targets. The study also revealed a 'molecular scar' in the gut lining that leaves lasting marks on stem cells.
Researchers have sequenced and analyzed the two-toed sloth genome, discovering unique 'jumping genes' that are likely linked to their slow metabolism. These genes, which have been conserved over millions of years, may hold clues to understanding human health conditions such as diabetes, aging-related disorders, and muscle wasting.
Researchers create detailed cell map to identify genetic and cellular drivers of IBD, finding that many genetic effects occur in immune cells and epithelial cells. The study demonstrates the power of single-cell sequencing and genetics to unlock disease mysteries.
Researchers developed a new tool called TRAnsmision Clustering of Strains (TRACS) to track the spread of disease-causing microbes using genomics. The tool distinguishes between closely related bacterial strains and can identify transmission networks and rule out events in ongoing public health applications.
Researchers have identified a single genetic change that drives the development of myeloid leukaemia in children with Down Syndrome. The study reveals a common vulnerability and treatment target, suggesting potential repurposed treatments. The genetic change, related to the GATA1 gene, is present at all stages of the disease.
Researchers tracked 30 patients with chronic blood cancers over time, finding that those whose disease remained stable had 'steady' blood cells without additional mutations. Conversely, those with progressing diseases developed changes in DNA years before symptoms worsened. This challenges current views on diagnosing patients without t...
A new report estimates that sequencing DNA of all complex life in UK and Ireland could benefit the economy through improved crop resilience, medicine, and conservation. The Darwin Tree of Life Project has already saved research costs by providing over 2,500 reference genomes.
Research reveals a previously hidden role for somatic mutations — DNA changes acquired throughout life — in diseases beyond cancer. Mutations in key genes were found to contribute to thyroid autoimmunity, potentially providing a path towards precision medicine.
A genomic study found that cholera bacteria rapidly gain and lose defensive systems against a viral nemesis, ICP1, resulting in lower disease severity and reduced ability to spread globally. The study challenges the long-held belief that the Ganges Delta is the global source of cholera.
A large-scale genetic study identified five capsule types responsible for 70% of multidrug-resistant E. coli infections in Europe. Researchers created a digital database mapping capsule type and E. coli strain to design targeted vaccines and treatments.
A study analyzing tumours from almost 500 pet cats identified genetic changes that could help treat breast cancer in humans and animals. Similarities were found between feline mammary cancers and human breast cancers, suggesting potential avenues for therapy.
A new study found that acral melanoma, a rare and aggressive type of skin cancer, varies among individuals with distinct gene expressions linked to different outcomes. The research analyzed the genetic makeup of over 100 tumours from Mexican patients and uncovered three groups showing unique patterns of gene activity.
A global atlas mapping two key gut bacteria has uncovered a treasure trove of bacterial strains adapted to the infant gut, not found in commercial probiotic products. The study reveals region-specific strains that have naturally evolved to thrive in a baby's microbiome, shaped by regional diets and environments.
Researchers discovered that CHD1 and MAP3K7 gene deletion improves tumor vulnerability to immunotherapy. This finding suggests new biomarkers for predicting patient response and opening up personalized cancer care. The study sheds light on why some patients are more or less likely to respond to certain types of cancer treatments.
Researchers mapped over half a million individual human cells from the developing reproductive system to identify key genes and signals that drive organ formation. The study provides important insights into conditions affecting the reproductive organs and how environmental chemicals may affect reproductive health.
The largest-ever study of the nasal microbiome found that persistent carriers have a distinct microbiome with an abundance of Staphylococcus aureus and a lack of other species, while certain bacteria may help resist S. aureus colonization in non-carriers. The study also identified patterns in the nasal microbiome and used machine learn...
Researchers found that hospital-acquired bacteria Pseudomonas aeruginosa often spread from the lungs to the gut in patients, heightening the risk of life-threatening sepsis. The study also identified frequent DNA changes associated with antimicrobial resistance, making treatment more difficult.
Researchers identified a new subtype of T-cells that do not respond to current treatments and could impact clinical care. A genetic marker, ZBTB16, was found to be switched on in these cells, which can be used to identify them.
A new study has found that certain strains of E. coli, commonly found in the human gut, can spread at an alarming rate, comparable to viral outbreaks like swine flu. This breakthrough could inform public health measures and prevent treatment-resistant infection outbreaks.
Researchers have developed a new pipeline to identify complex structural genetic changes, enabling accurate diagnoses for 145 children with rare conditions. The study found that structural variants play a key role in the development of multiple health conditions, including neurological and developmental disorders.
A recent study found extensive antibiotic resistance in Haemophilus influenzae, a type of bacteria causing up to 200 million childhood infections. Despite this, the team discovered surprisingly little genetic variation, suggesting a universal vaccine targeting shared features could be developed.
New research has revealed that the 'London Underground mosquito' evolved over 1,000 years ago in Ancient Egypt, contradicting a long-held theory of its emergence in northern Europe. The study's findings suggest that hybridisation between human-biting and bird-biting mosquitoes may contribute to West Nile virus transmission.
Researchers have refined a powerful DNA sequencing tool to uncover hidden mutations in healthy tissues, providing insights into the earliest steps of cancer development. The study, led by the Wellcome Sanger Institute, analyzed over 340,000 mutations in cheek cells and identified key driver genes associated with cancer.
Researchers have discovered that certain harmful DNA variations become more common in sperm as men age, raising genetic disease risk for offspring. The study found that around 2-5% of sperm from middle-aged and older men carried disease-causing mutations, with a significant increase in the risk of passing on these mutations to children.
Researchers have identified a minority of plasmids as the primary cause of multidrug resistance in bacteria, evolving to gain resistance through selective pressure from antibiotics. The study developed a model for plasmid evolution, highlighting pathways and predicting future outbreaks.
Researchers identified eight types of fibroblasts, finding shared functions in various diseases and tissues. They suggest that fibroblasts could be universal drug targets due to their involvement in multiple diseases.
Researchers sequenced hundreds of Anopheles funestus mosquitoes to explore genetic variation and adaptation to control methods. The study provides new insights into the evolutionary patterns of this important human malaria-transmitting species.
Researchers have discovered how lymphatic vessels, the 'plumbing system' of the kidney, undergo dramatic changes during chronic transplant rejection. The vessels become structurally disorganized and spread to unusual parts of the kidney, disrupting immune balance and fuelling inflammation.
The Atlas blue butterfly has been found to have the highest number of chromosomes among multicellular animals, with 229 pairs. Researchers at the Wellcome Sanger Institute and IBE studied its genome, revealing that the extra chromosomes were broken up over time instead of duplicated.
A large international team genetically maps glasswing butterflies across Central and South America, rewriting the evolutionary tree and highlighting six new species. This study provides answers to questions that have remained unknown for at least 150 years.
Researchers analyzed blood cell genomes from 23 patients treated with various chemotherapies, discovering new patterns of DNA damage and mutational signatures associated with specific drugs. The study suggests using genomic data to choose chemotherapies that minimize premature ageing and potential secondary cancer risks.
Researchers created a comprehensive map of how individual mutations alter the energy landscape of amyloid beta aggregation, a process central to Alzheimer's disease. They found that preventing interactions in the C-terminal region could pave the way for new therapeutic strategies.
A new study suggests that certain microbiome compositions in babies born vaginally, specifically with a higher amount of pioneer bacteria B. longum, are less likely to be hospitalised for viral lower respiratory tract infections (vLRTI) in the first two years of life.
Researchers found that childhood kidney cancers have significantly more genetic changes than previously thought, with some tumors having up to millions of changes. This discovery challenges the existing notion that childhood cancers have few genetic variants and suggests new treatment options such as immunotherapy.
Research reveals that different ancestry groups have varying rates of new genetic mutations passed to children, with African groups showing a higher rate. Additionally, parental age, especially paternal age, significantly impacts the number of new genetic mutations, while parental smoking is linked to a small increase in mutation count.
Researchers found explosive growth rates of cancerous cells years before diagnosis, with variation in growth rates between patients. The study suggests that a single genetic variation drives the disease, making it an outlier compared to other cancers.
The study reveals new insights into the 'language' of gene expression, identifying key motifs that influence human development and disease risk. By analyzing 58,000 pairs of transcription factors, researchers estimated they identified between 18 and 47% of all human transcription factor pair motifs.
Researchers created a bacterial evolutionary map that tracks plasmid gene exchange and identifies barriers to treatment. The study reveals new insights into the co-evolution of plasmids and E. coli strains, paving the way for targeted therapies against antibiotic-resistant infections.
Scientists analyzed somatic mutations in stomach lining tissue to explore cancer development, finding that cells with 'driver' mutations occupy almost 10% of the gastric lining by age 60. An unusual discovery suggests exposure to an unknown mutagen led to trisomy of chromosomes 13, 18 and 20, increasing the risk of gastric cancer.
A new AI tool, NicheCompass, visualizes a cell's social network to help treat cancer. By analyzing millions of cells from patient samples, the tool predicts molecular changes and identifies potential targets for personalized treatments.
The European Genome-phenome Archive has released the largest ever DNA sequencing dataset on UK child development studies, containing high-resolution data from over 37,000 children and parents. This comprehensive resource can be used to investigate genetic variation's impact on neurodevelopmental conditions and childhood obesity.
Researchers found genetic changes not exclusive to tumours and skin patches, suggesting additional factors are necessary for tumour development. The study identified a pattern of mutations in the NF1 gene that may explain why nervous system tissues are commonly affected.
Scientists create complex human cell lines with random genome structural changes to study their impact on cell survival and gene expression. They found that essential genes must remain intact for significant structural changes to be tolerated.
A new study has mapped genetic differences across children with Wilms tumour, a type of childhood kidney cancer, to understand how it develops and responds to treatment. The research suggests that inherited genetic changes predetermine tumour development, growth, and response to treatments.
A new study reveals unexpected patterns of mutation inheritance in family trees of single cells, showing that some DNA damage can last for two to three years without repair. This persistence creates multiple chances for harmful mutations to occur, leading to cancer development.
Researchers analyzed 7,000 S. aureus samples to identify key genetic changes that enable bacterial survival in humans. The study revealed mutations associated with nitrogen metabolism and immune system evasion strategies.