Researchers at the Wellcome Trust Sanger Institute have discovered how a promising malarial vaccine target, RH5, helps parasites invade human red blood cells. The study reveals that P113 anchors RH5 and provides a molecular bridge between the parasite and red blood cell, making it an attractive new target for malaria vaccines.
Scientists have identified a genetic variant that doubles an individual's risk of developing ulcerative colitis and uncovered novel genetic associations to IBD risk. The study provides clues on new drug targets for IBD treatment.
A recent genetic study discovered 14 new developmental disorders in children, providing diagnoses for over 1,000 individuals and their families. The study revealed that nearly 400,000 annual births worldwide are affected by rare developmental disorders caused by spontaneous mutations.
The genomes of Plasmodium malariae and Plasmodium ovale parasites have been sequenced, revealing genes that could be involved in human infection and immune evasion. These findings may lead to the development of improved diagnostic tools and vaccines against these less common but still deadly malaria species.
Researchers found 33 places in breast cancer genomes where tandem duplications were most often found, leading to further cancerous changes. These 'hotspots' may create new driver mutations, making tumours more aggressive and potentially responsive to different treatments.
A study published in Nature Genetics has shown that a knowledge bank of patient data can be used to predict the best treatment option for people with acute myeloid leukaemia (AML). The tool takes into account individual genetic features, treatment schedule, and outcome, enabling therapeutic choices to become personalised. This approach...
Research has discovered a new biological target for reducing tumour spread in cancer patients. The Spns2 gene was found to be involved in regulating the spread of cancers, with targeting it leading to a three-quarters reduction in tumour spread.
Researchers identified four new regions of the genome associated with PSC risk, one of which is linked to increased levels of a protein called UBASH3A. The study found unique aspects to PSC biology and suggests the disease is not simply caused by IBD.
A new platform, Microreact, combines real-time global data sharing and visualization to track and understand outbreaks of diseases like Ebola and antibiotic-resistant microbes. This tool democratizes genomic data, allowing researchers and public health professionals to access and build upon each other's work.
Scientists have developed a new, controllable CRISPR genome editing platform called sOPTiKO that can be used in every cell type and at every stage of development. This allows researchers to rapidly investigate the changing role of genes as cells develop into different tissues.
The BLUEPRINT project has discovered how variation in blood cell characteristics and numbers affects the risk of complex diseases such as heart disease and autoimmune diseases. Genetic differences affecting some characteristics are linked to increased risk of heart attack, rheumatoid arthritis, and other common autoimmune diseases.
Scientists discovered genetic markers linked with piperaquine resistance in Plasmodium parasites, allowing health officials to monitor the spread of resistance and guide treatment decisions. The emergence of piperaquine resistance in Cambodia threatens global efforts to eliminate malaria.
Researchers found that smoking one packet of cigarettes a day accumulates an average of 150 extra mutations in every lung cell, leading to increased cancer risk. The study also identified molecular fingerprints of DNA damage in smokers' DNA, revealing the complex mechanisms behind tobacco-related cancers.
The study found that 1% of chimpanzee genomes are derived from bonobos, indicating gene flow events between the species. This discovery has strong implications for chimpanzee conservation, enabling researchers to locate individual chimpanzees by their geographic origin.
Researchers used CRISPR to identify genes essential for AML cell survival, including the novel KAT2A gene. Inhibition of KAT2A destroys AML cells while sparing healthy blood cells in laboratory and mouse studies, offering new potential treatment options.
Researchers found that esophageal cancer cells do not divide faster than their normal neighbors, but instead produce slightly more dividing daughter cells. This imbalance in cell division can lead to tumor growth over time, making it harder to treat with current therapies.
Two novel African types of Salmonella Enteritidis, genetically distinct from the Western type, have been identified through a global-scale genetic study. These bacteria have developed resistance to multiple antibiotics and are a major cause of blood poisoning and death in Africa.
Researchers discovered gene mutations linked to three new rare congenital heart disorders and found evidence of genetic differences between two forms of the disease. The study provides valuable insights into the genetic causes of non-syndromic CHD, which affects 90% of CHD patients worldwide.
Scientists discover gene BCL11A responsible for a new intellectual disability syndrome, which affects brain development and function. The study reveals that two healthy copies of the gene are necessary for normal brain cell development.
Researchers found that red hair-associated MC1R gene variants increase genetic mutations in melanoma skin cancer by an average of 42% more than the general population. This highlights the need for everyone to be cautious about sun exposure, regardless of their hair color.
A recent study has discovered a strong link between genetic mutations and sensitivity to specific drugs in patient-derived cancer cell lines. The researchers found that these cell lines harbor most of the same genetic changes found in patients' tumors, making them useful models for identifying effective treatments.
A study on Plasmodium vivax reveals rapid evolution of drug resistance in response to widely-used antimalarial drugs. The genomic data sets will guide effective malaria control and elimination strategies, supporting local public health efforts.
The Global Alliance for Genomics and Health presents a vision for a common framework of principles, protocols, and interoperable systems to enable responsible data sharing. The alliance has created tools such as the Genomics API and the Framework for Responsible Sharing of Genomic and Health Related Data.
Scientists identified 11 major groups of AML, each with unique genetic changes driving the disease. The study's findings improve diagnosis and treatment for young AML patients by predicting survival rates based on genetic complexity.
A new global research project, Your DNA Your Say, aims to gather opinions from across the world on sharing genetic information. The survey, launched by the Global Alliance for Genomics and Health (GA4GH), seeks to understand public attitudes on data sharing, its use in genomic medicine, and potential harms.
Scientists have developed a web-based system to track the spread of antibiotic-resistant MRSA and other superbugs across Europe, providing valuable insights for infection control teams. The tool, Microreact.org, uses whole-genome sequencing to identify patterns of resistance and help policymakers implement prevention strategies.
Researchers at Wellcome Trust Sanger Institute have catalogued over 130 human intestine bacteria, enabling them to study the microbiome's role in health and disease. The discoveries hold promise for creating tailored treatments with specific beneficial bacteria.
The study uncovered five new genes associated with breast cancer and 13 new mutational signatures that influence tumour development. The analysis revealed the genetic variations in breast cancers and their distribution across the genome.
A study published in Nature Genetics reveals explosive increases in male population numbers on five continents between 50,000-55,000 years ago, likely due to first peopling of vast continents. Later expansions may have resulted from advances in technology such as wheeled transport and metal working.
Scientists at the Wellcome Trust Sanger Institute found that induced pluripotent stem (iPS) cells acquire fewer genetic mutations than lab-grown blood cells, reducing the risk of cancer. The study tracks the genetic history of iPS cells and provides insights into the mechanisms behind mutation rates.
The Wellcome Trust Sanger Institute scientists discovered that the insertion of just two DNA bases into a gene helps the parasite overcome antimonial drug treatment. Whole-genome sequencing analysis revealed that the genetic landscape of L. donovani offers new insights into its evolutionary history and ability to develop drug resistance.
A large-scale genomic study found that the Shigella dysenteriae pathogen, responsible for life-threatening bloody diarrhea, originated in Europe. The bacterium was transmitted to other continents via human migration and military operations, leading to devastating epidemics worldwide.
A study published in Nature Communications has discovered that genes can move from chlamydia strains in the eye to sexually transmitted strains, allowing them to infect the eye and cause Trachoma. This revelation challenges previous beliefs about Chlamydia evolution and highlights the potential for new variant Trachoma strains to emerge.
A study reveals a deep indigenous genetic history tracing back to the initial settlement of Australia 50 thousand years ago, challenging previous theories about an influx of people from India. The findings show a long and independent genetic history in Australia.
The study reveals that Schistosoma mansoni, a blood fluke infecting over 250 million people worldwide, originated in East Africa and was transported by slave traders to the Caribbean. Genomic comparison with a closely related species identifies key genetic variations enabling the parasite to infect humans.
Researchers estimate that approximately one-third of British ancestors were Anglo-Saxon immigrants, who mixed with the native population. Genome sequences from ancient skeletons and modern-day DNA data reveal integrated communities and support a long-standing debate among historians and archaeologists.
Recent research reveals that all dividing human skin cells have the potential to switch between two modes of cell division, one for maintenance and another for wound repair. This finding explains how skin grafts work and may lead to new treatments for wound healing and cancer.
Researchers found two clock-like mutational processes in human cells, correlated with age and potentially responsible for cancer and aging. The study analyzed 10,250 cancer genomes and identified 33 mutational signatures, revealing distinct mutation rates in different cell types.
Researchers have discovered a genomic molecular fingerprint, signature 3, that highlights certain gastric cancers susceptible to treatment with platinum drugs or PARP inhibitor drugs. This biomarker could guide targeted therapy for breast, ovarian and pancreatic cancers as well.
Researchers developed a CRISPR/Cas9 approach to study and model cancer development in mice, uncovering cancer-causing roles and combinations of genes. The method enabled the identification of genes influencing liver and bile duct cancer development.
A study of over 30,000 patients found that Crohn's disease and ulcerative colitis share similar genetic markers, suggesting a continuum of disorders. Genetic data can help identify misdiagnoses and inform treatment guidelines.
A new study has identified four previously uncharacterized genetic disorders in children, using a computational approach to analyze DNA samples from over 4,000 families across the UK and Republic of Ireland. The researchers compared these samples with data from millions of people who have agreed to share their genetic information.
The UK10K project analyzed nearly 10,000 individuals to understand the contribution of rare genetic variants to various diseases. The study identified new genetic variants and genes underlying disease risk, increasing the resolution of genetic discoveries.
A large-scale genetic study has discovered that the regions of the genome underlying inflammatory bowel disease (IBD) are consistent across diverse populations. The study included nearly 10,000 DNA samples from East Asian, Indian or Iranian descent and an existing set of 86,640 samples drawn from Europe, North America and Oceania.
The study, published in the American Journal of Human Genetics, used 225 human genome sequences from Egyptians and Ethiopians to determine the most likely route of human migration out of Africa. The research found that Egypt was the primary gateway for humans migrating north, supporting a northern route rather than a southern one.
A study reveals that cancer-associated mutations exist in a significant percentage of normal skin cells, potentially offering insights into the origins of cancer. Researchers found that skin cells carry thousands of mutations caused by sun exposure, with around 25% carrying at least one cancer-associated mutation.
A landmark genomic study reveals a single clade of typhoid bacteria, H58, is driving global spread, displacing other strains and creating a previously underappreciated epidemic. The study highlights the urgent need for global surveillance and coordinated efforts to prevent and control antimicrobial-resistant typhoid.
Researchers used organoids derived from human tumor samples to test cancer drugs and predict patient response. The findings demonstrate the power of organoids to capture complex mutations in tumours.
A survey of nearly 7000 people found that 98% want to be informed if researchers stumble upon disease indicators in their genetic data. Genomic data has a perceived value, but clinically actionable data is the main interest. Healthcare professionals are concerned about sharing incidental findings and ancestry info.
Researchers have developed a large-scale sequencing technique called Genome and Transcriptome Sequencing (G&T-seq) that reveals the unique genome sequence of a single cell and the activity of genes within that cell. The study found that when a cell loses or gains a copy of a chromosome, the genes in that region show decreased or in...