A international consortium has developed a novel method to target specific genes in mouse embryonic stem cells, allowing for the disruption of almost 9,000 genes. This resource will enable researchers to study gene activity in models of human disease, advancing our understanding of gene function and its role in mammalian biology.
Researchers found that humans receive approximately 60 new mutations from their parents, with varying rates coming from the mother and father. The study provides a direct measure of new mutations and reveals surprising differences in mutation rates between families.
Researchers are using genomic research to identify new genes that give rise to osteosarcoma and develop personalized blood tests to monitor disease in patients. The goal is to improve treatment of this difficult disease through better diagnosis and monitoring.
A study identified three critical steps to transform normal blood cells into leukaemic ones, each subverting a different cellular process. The researchers found that NPM1 mutation is a key event in acute myeloid leukaemia development and can cooperate with other mutations to cause the disease.
The Deciphering Developmental Disorders (DDD) Project collects genomic data from 12,000 children with developmental delays or multiple malformations. The goal is to develop clinical tools to unlock genetic reasons for these conditions, enabling doctors to make rapid diagnoses in up to one in five cases.
Researchers have identified 15 new genetic regions associated with an increased risk of developing primary biliary cirrhosis. The study used genome data from 2,500 patients and 7,500 healthy individuals, tripling the number of known genetic regions to 22.
Researchers sequenced 240 samples to understand how S. pneumoniae bacteria evolves and adapts genetically in response to human interventions, revealing patterns of adaptation and spread of a drug-resistant lineage. The study suggests that knowing the enemy better could improve infection control measures.
Researchers have identified a frequently mutated gene, PBRM1, in one in three patients with the most common form of renal cancer. The gene is tied to two previously identified genes on chromosome 3 and plays a role in controlling cell growth and repairing DNA damage.
Researchers discover that chromosomal crisis is common in cancer development, causing hundreds of genome fragments and multiple mutations. The phenomenon is particularly common in bone cancers, where the ravaged genome can lead to increased cancer development.
A team of scientists identified a set of brain proteins that accounts for over 130 brain diseases, including Alzheimer's and Parkinson's. The study provides a new way to study the evolution of the brain and behavior, and opens paths toward tackling these diseases.
Researchers uncovered unique genomic instability in pancreatic cancer, which drives tumor adaptation and spread. This study highlights the need for improved early diagnosis methods and targeted treatments.
Researchers have developed PiggyBac, a genetic tool that can speed the discovery of novel genes involved in cancer. The system has identified new candidate cancer-causing genes and will complement advances in genomics and genetics of cancer.
The latest phase of the HapMap Project reveals rare genetic variants distributed unevenly among populations, with some genes under selection in different populations. The study provides a framework for future genetic studies of variation and disease, highlighting the importance of examining diverse populations.
Researchers have discovered a genetic risk factor associated with common types of migraine, revealing a potential explanation for the link. A DNA variant on Chromosome 8 regulates glutamate levels in nerve cells, which may play a key role in migraine attacks.
The largest study of its kind has released its first results, providing a wealth of information on how genetic mutations affect cancer responses to treatments. The research aims to improve patient care by tailoring treatment to individual tumour characteristics.
Scientists have created a novel type of immune system cell called Induced T to Natural Killer Cells (ITNK cells) that can kill cancer cells in lab tests and mouse models. These reprogrammed killer cells are more efficient at targeting tumour cells than unmodified Natural Killer cells.
Researchers have generated a high-quality draft genome sequence for the strain of T. brucei responsible for human African trypanomiasis, a chronic disease affecting the central nervous system. The study found that the parasite's ability to infect humans is linked to subtle genetic differences, including changes in VSG genes.
Researchers developed a method to distinguish driver mutations from passenger mutations in cancer genomes by analyzing deletions at known tumour suppressor genes and fragile sites. The study found at least one in nine genes can be removed without killing human cells.
Researchers developed a new method to precisely track MRSA transmission in hospitals, enabling understanding of strain spread and leading to novel infection control strategies. The team used DNA sequencing technologies to compare individual isolates and identify genetic relatedness.
A team of researchers identified ten new genetic markers associated with biological traits underlying type 2 diabetes and three new variants linked to raised glucose levels. The study helps unravel the complex biology of type 2 diabetes and paves the way for further research on treatments.
Researchers sequenced over 100 kidney cancer samples, identifying mutations in genes controlling gene expression and chromatin structure. The study reveals genetic complexity in ccRCC, providing insights into diagnosis and treatment options.
Researchers characterised genomic rearrangements in 24 breast cancers, revealing diverse patterns of disruption and defective DNA repair mechanisms. These findings have significant implications for tumour classification and the development of targeted therapies.
Research teams analyzed cancer genomes, uncovering over 30,000 mutations in lung cancer and 33,000 in melanoma, which carried records of when and how they occurred. The studies revealed the impact of environmental mutagens, such as cigarette smoke and sunlight, on DNA.
Researchers have characterised a new multi-drug resistant strain of Salmonella Typhimurium causing life-threatening disease in Africa. The new strain, ST313, is resistant to several antibiotics and may spread from person to person, predominantly affecting individuals with weakened immune systems.
Researchers used a novel high-throughput analysis technique to study every gene in Salmonella Typhi, revealing that only 356 genes are necessary for its survival. The TraDIS method has the potential to accelerate the discovery of new targets for treatment and improve our understanding of bacterial disease.
A genome-wide association study identified 22 regions of the human genome associated with eight blood measurements, including haemoglobin concentration and platelet counts. These genetic variants are linked to increased risk of heart disease, coeliac disease, and type 1 diabetes in European populations.
Researchers create the largest map of human genome changes, identifying 75 regions that 'jump' between genomes and over 250 genes with duplicated copies. The study provides insights into evolutionary biology and offers a resource for researchers to explore genetic variation's role in human disease.
A team of scientists has measured the general rate of genetic mutation at individual DNA letters in humans for the first time. The study found that most mutations are harmless and have no apparent effect on health or appearance, with an average of 100-200 new mutations per person.
Researchers have found that antibiotic treatment can induce the transmission of C. difficile by creating a 'supershedder state' in mice, where they shed high levels of spores even without symptoms. This suggests widening infection control measures to include all patients receiving antibiotics could be necessary.
The complete genome sequence of Schistosoma mansoni, a parasitic worm causing devastating disease, has been published. Researchers have identified potential new drug targets and explored ways to treat and eradicate the disease.
Researchers identified a new strain of Chlamydia that spread rapidly across Sweden due to an evolutionary 'hiccup' in its genetic code, allowing it to evade most established diagnostic tests. The study provides valuable insights into the evolution of the bacterium and highlights the need for updated diagnostic tools.
Researchers at the Wellcome Trust Sanger Institute have identified a set of brain proteins responsible for various neurological disorders. These proteins are found to be defective in molecular machines that control communication between nerve cells and learning processes.
A study of over 200 families with learning disabilities has discovered nine new genes on the X chromosome associated with the condition. The research highlights the challenges of identifying genetic causes and cautions against assuming that a knocked-out gene is causing a disease.
The DECIPHER database has revealed its developing role in revolutionizing both clinical practice and genetic research, providing a key to unlock the causes of illnesses. The data from around 100 centres has been shared openly worldwide, benefiting researchers, clinicians, and patients.
A study found a microRNA gene, miR-96, associated with progressive hearing loss in humans and mice. The mutation disrupts the development of sensory hair cells, leading to dramatic loss of hearing.
Researchers identified a new cancer gene, UTX, common to many cancers and affecting gene regulation. The UTX protein modifies chromatin structure, altering histone modification and impacting gene activity.
A study by the Wellcome Trust Sanger Institute suggests that around 1 in 200 human genes may be unnecessary for human health. The researchers found that single-letter changes in genetic code can disrupt proteins, leading to variations that are either beneficial or have little consequence.
A genetic study found that 4% of Indian subcontinent populations carry a MYBPC3 mutation, associated with a high risk of heart problems. Researchers identify a potential solution through early screening and lifestyle modifications.
A genetic study of over 90,000 people has identified six new genetic variants linked to increased Body Mass Index (BMI), indicating that many genetic variants implicated in obesity may affect behavior rather than energy or fat metabolism. The study suggests that the brain plays a crucial role in regulating body weight.
A population cohort study found six novel genetic variants associated with lipid levels, a common indicator of heart or artery disease. The research team analyzed over 20,000 DNA samples from European countries, increasing the power of 'genetic microscopes' to identify lipid-gene links.
Researchers identified a gene involved in the body's response to the day-night cycle strongly linked to high blood sugar levels and type 2 diabetes. The melatonin receptor is implicated in conditions like jetlag and sleep disorders, suggesting that disrupted sleep patterns are connected to metabolic health.
A genome-wide study has identified 23 regions of the genome associated with nine metabolic traits, including cardiovascular disease, type 2 diabetes, blood pressure, and inflammation. The study found 14 known genetic variants and nine novel variants, five of which are good candidates for important variants.
Researchers compared many human and chimpanzee genomes to identify duplicated or lost regions during evolution, finding similar patterns in copy number variation but key gene differences. CNVs affected genes involved in inflammation and cell proliferation, with one gene linked to HIV susceptibility found to have reduced numbers in chimps.
The genome of Plasmodium knowlesi, a mosquito-human malaria parasite, has been decoded, revealing unique genetic features that enable it to evade host immune systems. The study found that the parasite's genes are scattered throughout its genome, unlike other malaria parasites, and that it uses molecular mimicry to survive and propagate.
A new study uses next-generation DNA sequencing to uncover genetic signatures of typhoid fever, allowing for improved diagnosis, tracking of disease spread, and potential design of new vaccines. The technology also enables researchers to identify individual organisms causing outbreaks and target vaccination campaigns more effectively.
The Wellcome Trust Sanger Institute has sequenced 300 human genomes in six months, producing over 1 trillion letters of genetic code. This data will revolutionize human medical genetics and allow researchers to answer questions previously unthinkable.
New research explores the evolutionary origins of the brain, shedding light on how complex synapse structures drove brain evolution. The study finds that sophisticated molecular processing of nerve impulses was key to developing animals with more complex behaviors.
A large genetic study in mice has identified hundreds of genes involved in the development of cancer by examining the DNA of more than 500 lymphomas. The study found almost 10,000 mutations that together implicate around 350 gene regions in cancer formation.
A recent study published in Nature Genetics has identified two new genetic variants associated with fat mass, weight, and risk of obesity. The variants, located near the MC4R gene, act in addition to previously described FTO gene variants, resulting in an average increase of 3.8 kg (or 8.5 lb) in weight.
Researchers at the Wellcome Trust Sanger Institute have developed a novel method to identify weak and transient protein interactions. By analyzing over 6000 experiments in mammalian cells, they discovered 17 new pairs of interactions that could lead to novel therapeutic opportunities for diseases such as cancer, diabetes, and growth.