A recent study published in The Lancet reveals evidence for transmission of Mycobacterium abscessus between Cystic Fibrosis patients through DNA sequencing, highlighting the global spread of antibiotic-resistant bacterial species. The research team developed new measures to protect Cystic Fibrosis patients from this emerging threat.
Researchers have mapped tapeworm genomes to identify potential drug targets using existing drugs, which could lead to faster and more effective treatments. The discovery has significant implications for the development of urgently needed therapies for these devastating diseases.
The African Partnership for Chronic Disease Research will collect detailed health and disease information from over 24,000 individuals across 10 countries. This will provide a unique framework for researchers in these countries and enable the development of long-term strategies for disease control and management.
Researchers sequenced DNA molecules directly without library preparation, using less than one nanogram of DNA. The technique has potential for fast and efficient identification of organisms in hospitals and healthcare settings.
Researchers have identified two strains of Clostridium difficile responsible for the global epidemic, highlighting the ease and rapidity of transmission across continents. The study shows that fluoroquinolone resistance played a key role in the spread of these strains.
A study cataloging genetic variants in healthy individuals reveals approximately 400 damaging DNA variants and a 1-in-10 risk of developing a genetic disease. The research highlights the complexity of genetic predispositions and raises ethical concerns about incidental findings.
Researchers have identified 75 genetic regions that influence red blood cell formation, shedding light on the biological pathways and mechanisms involved in controlling the size and number of red blood cells. This discovery may lead to new insights into the genetics of anaemia and potential treatments.
A large-scale study has identified 15 new genetic regions associated with coronary artery disease risk, bringing the total to 46 regions. The research also found that lipid metabolism and inflammation play a significant role in CAD.
Research identified UBE3B as the gene responsible for a rare developmental disorder in children, causing brain abnormalities and reduced growth. The study used a combination of DNA sequencing and mouse models to confirm the link between the gene mutation and the disorder.
Using DNA sequencing, researchers confirmed an ongoing MRSA outbreak in a hospital, identifying the source and extent of the infection. The team linked the outbreak to an unsuspecting carrier and treated them to eradicate the bacteria, preventing further spread.
Researchers have identified 71 genetic regions associated with inflammatory bowel disease (IBD), increasing the total number discovered to date to 163. The study reveals that IBD may result from an over-active immune response, which can lead to inflammation and damage in the intestinal tract.
A combination of six naturally occurring bacteria eradicates a highly contagious form of Clostridium difficile, a cause of bloating, diarrhea, and over 2,000 UK deaths in 2011. Faecal transplantation resolves symptoms and contagiousness, but the new approach aims to reduce antibiotic use.
Researchers show that newborn mice learn to suckle their mother's milk through a learned response built on learning her unique combination of smells. The study, published in Current Biology, finds that a pheromone is not involved in initiating suckling in mice.
A new study reveals the emergence and spread of invasive non-Typhoidal Salmonella disease in sub-Saharan Africa, which has a significant mortality rate of up to 45% in infected people. The disease is caused by a rapidly evolving form of Salmonella Typhimurium that acquired resistance to multiple front-line drugs.
Researchers have discovered three new genetic regions linked to primary biliary cirrhosis, bringing the total number of known regions to 25. The study used Immunochip technology to survey the genome for signs of autoimmune disease susceptibility.
The GENCODE Consortium discovered a staggering array of genes in the human genome, including over 10,000 novel genes and 20,687 protein-coding genes. Long non-coding RNAs, a relatively new type of gene, were also found to play a significant role in human biology and disease.
Researchers have identified 38 new genetic regions linked to glucose and insulin levels, expanding the total number of associated genetic regions to 53. The study used a powerful technology to analyze DNA sequence variations for multiple traits at once.
The study found that Shigella sonnei, a bacterium previously thought to be more common in developing countries, is now spreading globally due to its high levels of drug resistance. The researchers suggest that vaccine development will be crucial in controlling the disease.
A genetic screening approach has identified nine new genes associated with bone health, providing clues to the cause of bone disorders such as osteoporosis. The study used a collaborative effort between specialist skills in mouse gene deletion and bone measurement, assessing the strength of bones in 100 mutant mouse lines.
Researchers found striking similarities between Ethiopian and non-African genomes, suggesting a 3,000-year-old genetic exchange. This discovery supports the legend of the Queen of Sheba and her companions, providing insights into human evolution and cultural diversity.
Researchers used whole-genome sequencing to distinguish between related MRSA strains, potentially shortening outbreak duration. The study identified genetic differences between strains that current methods couldn't detect.
Researchers developed a new method to extract parasite DNA from patient blood samples, allowing for rapid analysis of malaria genomes. The study found unique differences in malaria development between Africa, Asia, and Oceania, with potential hotspots of drug resistance identified.
A team of researchers at the Wellcome Trust Sanger Institute sequenced the genomes of 21 breast cancers, revealing new mutation processes that drive their development. The study found that these mutations accumulate over time, creating a complex landscape of genetic changes in the cancer cells.
Researchers identify nine new genes that drive breast cancer development, highlighting the genetic diversity of the disease. The study provides insights into the consequences of this diversity and its implications for treatment.
A large-scale study has identified hundreds of associations between mutations in cancer genes and sensitivity to anticancer drugs. The research may lead to more effective treatments for childhood bone cancer, such as Ewing's sarcoma, by targeting specific genetic markers.
A genetic finding has identified a human gene that influences how we respond to influenza infection. People carrying a particular variant of the IFITM3 gene are more likely to be hospitalized with severe flu symptoms than those with other variants.
Researchers found that the absence of a single gene in Neospora makes it less able to evade the immune response in mice and other species. This may explain why Neospora has a limited host range compared to Toxoplasma, which has more surface proteins necessary for host adaptation.
Researchers used whole genome sequencing to reveal that Chlamydia strains can swap DNA, making it harder to detect new strains and track re-infections. This knowledge is crucial for improving Chlamydia testing and implementing health policies to combat the spread of this common STI.
The study compares the genomes of humans, chimpanzees, gorillas, and orang-utans, shedding light on human origins and genetic differences. Genetic changes important in evolution were found to be accelerated in genes related to sensory perception, hearing, and brain development.
Researchers have identified a gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. The discovery enables the development of a medical test for prenatal diagnosis and genetic counseling in affected families.
Professor Mike Stratton discusses the evolution of the cancer genome at the AAAS annual meeting, highlighting advances in whole genome sequencing and the development of COSMIC catalogue. This research provides insights into cancer causation, prevention, and treatment, with potential global solutions through international collaboration.
Researchers sequenced the Tasmanian devil cancer genome to understand its origin and spread. The study found that the cancer arose from a single female Tasmanian devil and has genetically diverged during its spread, indicating some sub-types may be more virulent.
Researchers have developed a new catalogue of loss-of-function (LoF) variants to better understand the normal function of human genes. The study identifies over 1000 LoF variants, some of which are rare and potentially harmful, while others may not have a significant effect on health.
A global survey aims to capture public attitudes towards sharing genomic results, with implications for genetic research and healthcare. Participants will provide their views on the ethics of genetic testing and data sharing.
Researchers at the Wellcome Trust Sanger Institute have identified two cell surface proteins, Jamb and Jamc, crucial for muscle cell fusion. The discovery sheds light on cellular fusion and its importance in muscle development, potentially leading to new treatments for muscle-wasting disorders.
Researchers have identified 68 genetic variants involved in platelet formation, including a novel role for tropomyosin 1 in platelet production. The study found that genes associated with heart attacks and strokes overlap with those affecting platelets, offering potential new targets for treatments.
Researchers have discovered a single receptor essential for the malaria parasite to invade human red blood cells, offering a promising new focus for vaccine development. This breakthrough could lead to the creation of an effective malaria vaccine that targets this universal entry pathway.
A study used the Sleeping Beauty transposon system to profile genes driving colorectal cancer, identifying over 200 genes that can be disrupted. These findings provide strong evidence for driver mutations in human tumours and lay the foundation for more effective targeted treatments.
Researchers found that Leishmania parasites have almost identical DNA sequences within species populations, suggesting a small number of genes cause different symptoms. The parasite's evolutionary success may be driven by genetic abnormalities leading to copy number variation, which increases understanding of drug resistance mechanisms.
Scientists have cleanly corrected a human gene mutation in a patient's stem cells, using cutting-edge methods to target and correct the sequence of the genome. The corrected gene worked normally, demonstrating the potential for patient-specific therapies.
Researchers developed a new method for reprogramming human cells into stem cells, increasing efficiency by 100-fold and producing high-quality cells faster. This breakthrough has potential applications in medicine, such as organ replacement, bone replacement, and treatment of neurodegenerative diseases.
A genomic study identified the SF3B1 gene as frequently mutated in myelodysplasia, a precursor to leukaemia. The mutation is associated with ring sideroblasts and anaemia, leading to more straightforward diagnosis through a single blood test.
A new mouse genetic blueprint accelerates human genetics research by identifying 56.7 million unique sites of variation associated with over 700 biological differences, including markers for diseases such as diabetes and heart disease.
The study reveals 37 new variants associated with common diseases, including chronic kidney disease, type 2 diabetes, and blood clotting. The researchers also identified a possible mechanism to detoxify substances, which could affect the risk of developing kidney disease.
A new gene, MCF2L, associated with osteoarthritis has been identified through a genome-wide association scan using the 1000 Genomes Project data. The variant is found on chromosome 13 and regulates nerve growth factor (NGF), suggesting that MCF2L plays a role in the development of osteoarthritis.
A recent study has traced the source of the current cholera pandemic to an ancestor that first appeared in the Bay of Bengal 40 years ago. The analysis reveals that the bacterium's genetic region SXT acquired around 1982, triggering global transmission from this original source.
Researchers have developed a new resource, mirKO, to investigate the role of microRNAs in human health. The resource provides tools to delete specific microRNA genes in mice or cells, allowing researchers to study their significance and biological function.
Researchers identified the NBEAL2 gene responsible for Gray Platelet Syndrome, a rare blood disorder characterized by gray platelets. The discovery enables early diagnosis with a DNA test, improving patient care and treatment options.
Researchers developed a new technique to analyze whole genomes from different populations, revealing continued genetic exchange between African and non-African populations after 60,000 years ago. The study provides fresh insights into human history from 10,000 to one million years ago.
Researchers developed a new strategy to improve the outcome of genome-wide association studies by linking initial association signals to functional DNA changes. The framework streamlined discovery of functional DNA variants underlying GWA signals, benefiting scientists worldwide.