Most engineered human cells created for studying disease
Researchers have engineered and analysed many random versions of human genomes in cell lines to ultimately understand the role of structural changes in disease.
DNA damage can last unrepaired for years, changing our view of mutations
While most known types of DNA damage are fixed by our cells’ in-house repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that the damage has multiple chances to generate harmful mutations, which can lead to cancer.
Human ‘Domainome’ reveals root cause of inherited conditions
The largest catalogue of human protein variants to date has revealed that protein destabilisation is the main driver of inherited genetic conditions and paves the way for precision medicine and AI-driven treatments.
Possible colon cancer vaccine target uncovered in bacteria
Higher rates of certain cancers in countries, such as the UK, may be linked to two particular strains of bacteria. Targeting these with treatments or vaccines could help reduce the risk of colorectal, bladder, and prostate cancers.
Mapping 1.6 million gut cells to find new ways to treat disease
By combining 25 datasets, researchers have created the largest cohesive cell atlas of the human gut and uncovered a new way that stomach cells may play a role in Inflammatory Bowel Disease.
Early skeleton map reveals how bones form in humans
The first ‘blueprint’ of human skeletal development reveals how the skeleton forms, shedding light on the process of arthritis, and highlighting cells involved in conditions that affect skull and bone growth.
Human immune system is ‘ready to go’ long before birth
By creating the first spatial atlas of the developing human thymus, a vital organ that trains immune cells to protect against infections and cancer, scientists have discovered that the foundation for lifelong immunity is established earlier than previously thought.
'Black box' of stem cell transplants opened in world-first blood study
For the first time, scientists have tracked what happens to stem cells decades after a transplant, lifting the lid on the procedure that has been a medical mystery for over 50 years.
Human skin map gives 'recipe' to build skin and could help prevent scarring
For the first time, researchers have created a single cell atlas of prenatal human skin to understand how skin forms, and what goes wrong in disease.
Most new recessive developmental disorder diagnoses lie within known genes
Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of families worldwide.
Breast and ovarian cancer newly linked to thousands of gene variants
Scientists have pinpointed thousands of genetic changes in a gene that may increase a person’s risk of developing breast and ovarian cancer, paving the way for better risk assessment and more personalised care.
Common diabetes drug slows growth of normal cells carrying cancer mutation
A common diabetes medication, metformin, slows the growth of precancerous cells in the oesophagus while some metabolic conditions accelerate it, suggests a new study.
Natural probiotic discovered in UK newborns' microbiomes
Newborn babies have one of three pioneer bacteria in their gut shortly after birth, one of which could be used to develop new personalised infant therapeutic probiotics, researchers show.
Human endometrial map uncovers hidden health clues
The most comprehensive map of the human endometrium, the inner lining of the uterus, has been created, uncovering diverse cell types and detailing the dynamic changes these go through during the menstrual cycle.
Hospital bacteria tracked better than ever before with new technique
Researchers have developed a new genomic technique that can track the spread of multiple superbugs in a hospital simultaneously, which could help prevent and manage common hospital infections quicker and more effectively than ever before.
'Gene misbehaviour' widespread in healthy population
Scientists have uncovered that ‘gene misbehaviour’ – where genes are active when they were expected to be switched off – is a surprisingly common phenomenon in the healthy human population.
Thousands of high-risk cancer gene variants identified
Over 5,000 genetic variants that enable certain cancers to thrive have been identified by scientists, along with a potential therapeutic target to treat or even prevent these cancers from developing.
Western superbugs do not dominate in Pakistan
Certain antibiotic-resistant strains of bacteria endemic to the UK, Norway and the USA have not taken hold in Pakistan despite the widespread use of antibiotics in this region.
Cutting-edge genomic test can improve care of children with cancer
Whole genome sequencing has improved clinical care of some children with cancer in England by informing individual patient care.
Immune response study explains why some people don't get COVID-19
Scientists have discovered novel immune responses that help explain how some individuals avoid getting COVID-19.
Sepsis patients could get the right treatment faster, based on their genes
Sepsis patients could be treated based on their immune system’s response to infection, not their symptoms.
Largest genomic cancer resource accelerating research and drug development
COSMIC has released the 100th version of its knowledgebase, containing further information on 300,000 somatic mutations linked to human cancers.
Key protein behind brain asymmetry uncovered
A key protein shaping left-right asymmetry in the brain has been uncovered in a new study published by Science. The protein, called Cachd1, plays a crucial role in establishing the distinct neural wiring and functions on each side of the brain, find researchers from UCL, the Wellcome Sanger Institute, the University of Oxford and other collaborators.
Mystery risk factor linked to high rates of kidney cancer, major DNA study finds
Researchers analysing the DNA of people with kidney cancer worldwide have found evidence of an unknown trigger that could explain the longstanding mystery of why some countries* have a higher incidence of the disease.
Human muscle map reveals how we try to fight effects of ageing
How muscle changes with ageing, and tries to fight its effects, is now better understood at the cellular and molecular level with the first comprehensive atlas of ageing muscles in humans.