A large-scale genomic study found that nearly 80% of cholera transmission in Dhaka occurred between people sharing a household. Preventing this spread could significantly reduce outbreaks and save lives. Local interventions such as sanitation and hygiene improvements can help break the chain of transmission.
Scientists discovered genetic causes of a group of related infant cancers that are targetable by existing drugs used to treat lung cancer and melanoma. Researchers identified mutations in the Epidermal Growth Factor Receptor (EGFR) and BRAF genes, which can be treated with afatinib and other targeted agents.
A genetic mutation in FOS and its relative FOSB has been identified as a hallmark of osteoblastoma, distinguishing it from the more aggressive osteosarcoma. This discovery will enable clinicians to correctly diagnose osteoblastoma and direct appropriate treatment.
A study revealed that Plasmodium falciparum emerged as a human-specific parasite species around 3,000 to 4,000 years ago. The researchers sequenced the genomes of all known malaria parasites and discovered a chain of events leading to its emergence.
A genomic approach has mapped antibiotic resistance in gonorrhoea throughout Europe, enabling accurate determination of resistance and identification of incorrect laboratory test results. The study established an open genomic database, supporting real-time surveillance of gonorrhoea worldwide.
A new machine learning tool can identify genetic changes in emerging strains of Salmonella that are more likely to cause dangerous bloodstream infections. The tool was developed using a dataset of old lineages and identified almost 200 genes involved in determining the pathogen's behavior.
Researchers found that the Y-chromosome gene UTY acts as a tumour suppressor, protecting male mice from developing AML. The study also reveals that loss of UTX leads to increased cancer risk in both humans and mice, highlighting potential new treatment avenues for AML.
Researchers have identified over 2,600 essential genes in Plasmodium falciparum, the most lethal malaria parasite. These genes will help guide future drug development efforts targeting specific genes crucial for parasite survival.
Scientists identified critical genetic changes that can lead to kidney cancer, with the first mutation occurring in childhood or adolescence. The findings suggest that early detection and intervention may be possible, particularly for high-risk groups.
Researchers from the Wellcome Sanger Institute used single-cell technology and organoids to study colorectal cancer cells, discovering that each cell is genetically unique and has many more mutations than normal cells. The study may allow for targeted prevention or treatment of cancer.
A team of researchers from the Wellcome Sanger Institute has discovered a human receptor protein on the surface of cells that malaria parasites interact with as they navigate through the body. This finding provides a key clue in understanding how to develop an effective malaria vaccine, potentially saving millions of lives.
Researchers have developed the Malaria Cell Atlas, a reference map that maps malaria parasite development in unprecedented detail. The atlas allows for the identification of weak points in the parasite's lifecycle, paving the way for intervention with drugs and vaccines.
Researchers found that genetic changes outside of genes, specifically regulatory elements, can cause rare developmental disorders. This discovery is a positive step towards providing an explanation for children with undiagnosed neurodevelopmental disorders, and could lead to diagnoses and treatment options for thousands of families.
Researchers have discovered a balance between two sets of transcription factors that instruct blood vessel cells to become blood stem cells during embryonic development. The findings could aid research into creating new blood cells for transplants and understanding cancer metastasis.
A study published in Nature Genetics has identified nine novel genes associated with osteoarthritis. Researchers used the UK Biobank resource and found that five of these genes differ significantly in their expression between healthy and diseased cartilage, offering new targets for future research into therapies.
Researchers at the Wellcome Sanger Institute discovered that SMAD2/3 proteins coordinate unexpected pathways with finely tuned gene expression, allowing cells to switch on and off genes rapidly. This mechanism could be essential for rapid responses in other processes like organ repair or cancer growth.
A study published in mBio reveals that a strain of typhoid acquired an additional piece of DNA encoding multiple antibiotic resistance genes, making it extensively drug-resistant. This outbreak highlights the urgent need for preventive measures, including vaccines, to combat the rising threat of antimicrobial resistance.
A comprehensive genetic study reveals that multidrug-resistant malaria parasites emerged and spread aggressively in Cambodia, under-reporting for years. Ongoing genomic surveillance is vital to inform public health malaria control strategies and detect patterns of resistance.
Scientists discovered clues to disease risk lie in molecular switches controlling genes, not just the genes themselves. The study used human induced pluripotent stem cells to model immune response variation between people, revealing that genetic effects are often hidden if not thoroughly searched for.
The Wellcome Trust Sanger Institute has sequenced 25 new genomes of UK species, including Grey Squirrels and European Robins. The project aims to understand the biodiversity of the UK and aid conservation efforts.
The largest genetic study of mosquitoes reveals that insecticide resistance is spreading rapidly across Africa, posing a significant threat to malaria control. The study found that wild mosquitoes are genetically diverse and can evolve resistance quickly, making it challenging to control the disease.
Researchers have identified the METTL3 gene as a promising new drug target for acute myeloid leukemia (AML), a potentially lethal disease. Inhibiting this gene destroys AML cells while leaving healthy blood cells unaffected.
Researchers developed a new 'rule-book' to estimate the risk of different cholera strains causing epidemics. The study found that 7PET strains from Asia repeatedly introduced into two main regions of Africa: West Africa and East/Southern Africa, leading to massive epidemics in some cases.
The Wellcome Trust Sanger Institute is sequencing 25 new UK species genomes to aid conservation and understand biodiversity. The results will be made publicly available and lead to future studies on the UK's rich species richness.
A study by the Wellcome Trust Sanger Institute reveals that routine genomic surveillance of MRSA can detect outbreaks much sooner than current methods. This approach helps prevent further transmission and reduces the number of people affected, with potential implications for infection control.
Scientists have discovered five new targets that can help create an effective malaria vaccine by reducing the parasite's ability to invade red blood cells. The study suggests combining these multiple factors could lead to a more effective vaccine.
Researchers found that on average, one to ten driver mutations are required for cancer to emerge. The study also reveals the number of mutations driving cancer varies considerably across different cancer types. By using an evolutionary approach, scientists can identify key genes and mutations involved in cancer evolution.
Researchers found that high genetic diversity can prime new mutations causing drug resistance in yeast cells, with varying degrees of impact. The study highlights the importance of understanding genetic diversity's role in evolving drug resistance, with potential implications for treating antimicrobial and anticancer diseases.
Researchers from Wellcome Trust Sanger Institute and Royal National Orthopaedic Hospital NHS Trust suggest a clinical trial of PI3K inhibitors for chordoma patients with specific genetic mutations. The study provides promising new treatment options for a rare and aggressive form of bone cancer.
Researchers created Expanded Potential Stem Cells (EPSCs) with greater development potential than current stem cell lines, shedding light on miscarriage and developmental disorders. The EPSCs can develop into any type of cell, offering a platform to study early embryo cells in detail.
A large-scale genetic study of Papuan New Guinean people found strong genetic differences between groups, reflecting linguistic and cultural diversity. The study suggests that the country's isolated highlands region has remained genetically independent for thousands of years.
A genetic study suggests that existing immunotherapy drugs could help some breast cancer patients with specific genetic changes in their tumors. The research identified a particular group of breast cancer patients who have genetic mutations that occur due to an abnormal DNA repair mechanism.
A genetic variant found in African-Americans significantly reduces the accuracy of the HbA1c blood test used to diagnose and monitor type 2 diabetes. This means around 650,000 African Americans could have undiagnosed type 2 diabetes if tested with the HbA1c test alone.
The Your DNA Your Say project gathers public opinions on the sharing of genetic information through a film-based survey. The results will feed into the work of GA4GH and inform policy development on how genetic data is used and distributed.
Researchers analyzed 9,000 proteins in bowel cancer cells to identify networks driving the disease. The study found that proteins can predict drug responses and suggests personalized medicine for patients.
Scientists have found that breast cancer cells spread to other parts of the body relatively late in disease development. This discovery supports the importance of early diagnosis and treatment, which can increase the chances of preventing cancer cell spread and improving survival rates.
Ancient DNA sequencing of 4,000-year-old Canaanite individuals and present-day Lebanese reveals that more than 90% of Lebanese ancestry is likely to be from the Canaanites. The study also discovered a mixture of local people and eastern migrants in the ancient Canaanite population.
A large-scale genetic study of E. coli bloodstream infections in England found that drug-resistant 'superbugs' are not dominant causes of infection. Instead, new types of E. coli emerge frequently, but are quickly balanced by other strains, suggesting a complex picture of disease dynamics.
A recent study analyzing over half of the malaria parasite's genes found that two thirds are essential for survival, opening up new avenues for antimalarial drug development. The researchers developed a method to decipher gene function by switching off and counting the growth of genetically modified parasites.
Researchers from the Wellcome Trust Sanger Institute and their collaborators have created a high-resolution map of the disease, pinpointing 18 genetic variants with over 95% certainty. This breakthrough has significant implications for the development of new treatments and personalized medicine for IBD.
A new study found that the differences between male and female mice impact on biomedical research, with sex having an effect in over half of studies. The results highlight the need to consider sex in future animal studies and clinical trials, as ignoring this difference can lead to missed scientific information.
A genetic study has identified a subset of osteosarcoma patients who may respond to IGF1R inhibitors based on their genetic profile. The study found that 10% of patients with a specific mutation in growth factor signalling genes could benefit from existing drugs.
Scientists have discovered a genetic variant that enables the Mylopotamos Greek population to live long and healthy lives despite consuming an animal-rich diet. The variant, rs145556679, is associated with lower levels of 'bad' natural fats and cholesterol, reducing the risk of cardiovascular disease.
A study identified a genetic rearrangement of red blood cell glycophorin receptors that confers a 40% reduced risk from severe malaria. The hybrid GYPB-A Dantu gene is found in some people from East Africa, but not in West African populations.
Scientists have created a comprehensive, high-quality reference set of human induced pluripotent stem cell lines from 301 healthy volunteers. The resource is available for independent research and will help researchers study common genetic variation to put disease variations in context with healthy people.
Researchers created a new model to study how chlamydia interacts with the human immune system, identifying key players IRF5 and IL-10RA. The results suggest these genes could be drug targets for new treatments.
Researchers found that genetics controlled which receptors were present in mice, but the environment also played a significant role in shaping the olfactory system. This combination of genetic and environmental factors gives each individual a unique sense of smell, even among genetically identical animals.
Researchers developed Single Cell Consensus Clustering (SC3) to overcome challenges in analysing complex single-cell RNA-sequence data. The tool resolved datasets from patients with myeloproliferative neoplasm, revealing correlations between gene expression and mutations.
Scientists have developed a new technique to produce human brain and muscle cells in just a few days, allowing for the creation of millions of functional cells. This breakthrough method, OPTi-OX, enables researchers to study diseases such as Alzheimer's and Multiple Sclerosis at unprecedented purities.
Researchers identified 163 early mutations in human development from adult cell genomes, revealing the dominant and minor cells that lead to different body tissues. These 'archaeological traces' of embryonic development provide unprecedented insights into human development.