Glasgow, UK: Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterised by an inability to repair skin damage caused by ultraviolet (UV) light. As a result, patients with XP develop skin cancers, usually in childhood. Once diagnosed, they can be protected by avoiding sunlight (hence sometimes being called ‘children of the night’), wearing […]
Polygenic risk scores could improve colorectal cancer screening
Glasgow, UK: Rates of colorectal cancer are high despite widespread adoption of screening programmes in many high-income European countries. Such programmes tend to use a one-size-fits-all approach where most people are screened starting from the same age, and no individual factors are considered in organised population screening. Now, based on one of the largest genomics […]
Results from first randomised controlled trial of genetic counselling for familial and inherited colorectal cancer show significant improvements in patient empowerment
Glasgow, UK: Genetic counselling is essential when dealing with individuals who are affected by, or at risk of, inherited disease. Although it is known to be useful in helping patients cope with test results and deal with uncertainty, there have been very few randomised controlled trials (RCTs) of its effectiveness. Dr Andrada Ciuca, a post-doctoral […]
Blood biomarkers plus genomics predict common disease risk more accurately than genomic information alone
Glasgow, UK: Being to identify people at high risk of chronic disease means that they can be targeted with prevention measures before they become sick. Polygenic risk scores, where genomic information alone is used to assess the risk of developing diseases, have been receiving a lot of attention recently, but research presented at the annual […]
The use of AI in eye scans helps improve diagnosis of inherited disease of the retina
Glasgow, UK: Inherited retinal diseases (IRDs), single-gene disorders affecting the retina, are very difficult to diagnose since they are uncommon and involve changes in one of many candidate genes. Outside specialist centres, there are few experts who have adequate knowledge of these diseases, and this makes it difficult for patients to access proper testing and […]
Are Emergency Departments unsafe? Patients and professionals think so
Emergency departments (EDs) are currently unsafe places for both professionals and patients, according to the results of an international survey carried out for the European Society of Emergency Medicine (EUSEM) and published in the European Journal of Emergency Medicine1. The main reasons for this are staff shortages and overcrowding due to the non-availability of beds […]
Plant-based diets are better for your health – as well as for the climate
Vegetarian and vegan diets are linked to lower levels of cholesterol and fats in your blood, according to an analysis of all the evidence from randomised trials published since 1982. The authors of the study, which is published in the European Heart Journal [1], say this means that plant-based diets can play a significant role […]
Dangerous snoring may affect one in five people, but most sufferers do not know they have a problem
Around one in five people may be suffering with obstructive sleep apnoea (OSA), according to a study published today in ERJ Open Research [1]. People with OSA often snore loudly, their breathing starts and stops during the night, and they may wake up several times. Not only does this cause tiredness, but it can also […]
World first: Researchers identify specific regions of the brain that are damaged by high blood pressure and are involved in a decline in mental processes and dementia
For the first time, researchers have identified specific regions of the brain that are damaged by high blood pressure and may contribute to a decline in mental processes and the development of dementia. High blood pressure is known to be involved in causing dementia and damage to brain function. The study, which is published in […]
Embryos’ development is delayed in pregnancies that end in miscarriage
Embryos in pregnancies that end in miscarriage take longer to develop in the womb than those in pregnancies that result in live births, according to new research published in Human Reproduction [1], one of the world’s leading reproductive medicine journals. For the first time, researchers in The Netherlands have been able to look at the […]