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Inaccurate naming of genetic diseases is resulting in some rare genetic diseases needlessly being undiagnosed, University of Manchester scientists warn. The Nature Genetics communication paper , published today (02/10/24 have throws into sharp relief existing data that around 6,000 UK children a year with rare illnesses never receiving a diagnosis, many dying without knowing what caused them The researchers also emphasise existing research that calculates the cost of pursuing lengthy diagnostic journeys rare genetic diseases to the NHS is over £3 billion per decade.

A new hand-held scanner developed by UCL researchers can generate highly detailed 3D photoacoustic images in just seconds, paving the way for their use in a clinical setting for the first time and offering the potential for earlier disease diagnosis. In the study, published in  Nature Biomedical Engineering ,  the team show their technology can deliver photoacoustic tomography (PAT) imaging scans to doctors in real time, providing them with accurate and intricate images of blood vessels, helping inform patient care.

Alzheimer's disease and glioblastoma are two of the most devastating and challenging brain disorders we can face. There's not currently a cure for either. Yet they also have a surprising connection. Emerging epidemiological studies suggest that people who have one of these conditions, seem to experience a reduction in the chance of getting the other, and the medical community isn't sure why.

Cyclists choosing a new helmet can see how much protection different helmets offer, thanks to new safety testing and ratings from Imperial College Lon Researchers at Imperial College London have developed a simple new cycle helmet safety rating system with simple-to-understand scores from 0-5, designed to help buyers select which helmet to buy and assist manufacturers in future helmet design. The system is based on extensive new safety testing experiments on medium-sized helmets at Imperial.

Researchers develop new approach to document genetic ancestry University of Glasgow researchers have helped to develop a new method for understanding the relationships between different DNA sequences and where they come from. This information has widespread applications, from understanding the development of viruses, such as SARS-CoV-2, the strain of coronavirus that causes COVID-19, to precision medicine, an approach to disease treatment and prevention that takes into account individual genetic information.

Flowers like hibiscus use an invisible blueprint established very early in petal formation that dictates the size of their bullseyes - a crucial pre-pattern that can significantly impact their ability to attract pollinating bees.

A team of international researchers at the University of Oxford (Oxford) and Nanyang Technological University, Singapore (NTU Singapore), has discovered a new process for repairing damaged DNA that is particularly relevant for patients undergoing colorectal cancer treatments. Reporting their finding in Cell , the researchers describe a new process in DNA repair in which cells remove harmful DNA-protein lesions from a cell's nucleus, ensuring the stability of their genetic material and promoting cell survival.

Scientists have found a way to create artificial sugars that could lead to better ways to diagnose and treat diseases more accurately than ever before. Sugars play a crucial role in human health and disease, far beyond being just an energy source. Complex sugars called glycans coat all'our cells and are essential for healthy function.

A new study aims, for the first time, to pinpoint the very moment the immune system recognizes a tumour to try to stop the disease earlier than previously possible. This research has the potential to give an entirely new perspective on the role of the immune system in cancer progression Heather Machado Currently cancer is usually diagnosed when tumours are already developed requiring, often significant, treatment to remove them and prevent further growth.

A new technology that uses light waves to measure activity in babies' brains has provided the most complete picture to date of functions like hearing, vision and cognitive processing outside a conventional brain scanner, in a new study led by researchers at UCL and Birkbeck.

Heatwaves can worsen abnormal excitability of the brain in people with epilepsy, finds a new small-scale patient study by clinical scientists at UCL. The research, published in Brain Communications , used intracranial electroencephalography (icEEG) tests - where small electrodes are inserted into the substance of the brain to measure electrical impulses - to track the brain activity of nine patients being evaluated for surgical treatment of medication-resistant epilepsy at the National Hospital for Neurology and Neurosurgery, in the summer months (May-August) of 2015 - 2022.

Newborn babies are born with a type of bacterium in their gut that could be used to develop new personalised infant therapeutic probiotics, finds a new study involving UCL researchers. In the largest study of UK baby microbiomes to date, published in Nature Microbiology , researchers from UCL, the Wellcome Sanger Institute and the University of Birmingham, used whole genome sequencing to analyse stool samples from 1,288 healthy infants, all'under one month old from the UK Baby Biome Study.

Researchers at the MRC Brain Network Dynamics Unit in Oxford's Nuffield Department of Clinical Neurosciences have discovered a new neuronal mechanism in the hippocampus, that prevents new 'flexible' memories from being formed due to a past 'robust' memory. Memories inform our everyday actions and guide our behaviours.

The first crystal structure of an alternative DNA shape from the insulin gene has been revealed by a UCL-led research team. DNA is widely accepted to be formed of two strands that wind around one another, known as a double helix, but it is possible for DNA to change shape and structure. The new study, published in Nature Communications , reveals the detail in the structure of a type of DNA called i-motif, by crystallising it for the first time.

Researchers have uncovered how hormones profoundly affect our immune systems, explaining why men and women are affected by diseases differently. Scientists from the Karolinska Institutet in Sweden and Imperial College London have shown for the first time which aspects of our immune systems are regulated by sex hormones, and the impacts this has on disease risk and health outcomes in males and females.

Scientists use AI to unlock protein structures of hundreds of viruses for the first time Scientists are pioneering the use of machine-learning artificial intelligence software to investigate viruses, revealing never-before-seen viral mechanisms which yield immediate fundamental insights and pave the way for vaccine development.

Scientists have revealed new insights into the mechanisms behind cerebral small vessel disease, a condition that affects the smaller blood vessels in the brain and causes approximately half of all dementia cases. The latest study, which is led by the University of Glasgow and published in eBioMedicine, has unlocked insights into the mechanisms behind some of the causes of cerebral small vessel disease by studying COL4A1/COL4A2, the genes responsible for the production of the collagen IV protein, which is crucial for vascular health.

World first breakthrough could lead to improved, personalised treatments for children with leukaemia and bone marrow failure disorders. Researchers have made a world first breakthrough into creating blood stem cells that closely resemble those in the human body, and the discovery could soon lead to personalised treatments for children with leukaemia and bone marrow failure disorders.

Male fruit flies will become oblivious to physical danger as they become more engaged in courtship and sex. Male fruit flies will become oblivious to physical danger as they become more engaged in courtship and sex, new research shows. Researchers at the University of Birmingham have shown that pursuit of a coveted reward - in this case a female fly - will cause a male fruit fly to ignore threats such as predation.

More people in the UK are at risk of a hereditary form of cardiac amyloidosis, a potentially fatal heart condition, than previously thought, according to a new study led by researchers at UCL and Queen Mary University of London. The study, published in JAMA Cardiology , used data from the UK Biobank to analyse the genes of 469,789 people in the UK and found that one in 1,000 possessed genetic variants with a likely link to cardiac transthyretin (ATTR) amyloidosis.