Milan, Italy: A study of nearly 500,000 people has shown that smoking shortens the end fragments of chromosomes in the white blood cells of our immune systems. The length of these end fragments, called telomeres, is an indicator of how quickly we age and our cells’ ability to repair and regenerate. In her presentation to […]
Category: Genetics
Researchers urge caution in gene editing early human embryos following findings that it could have unexpected and dangerous consequences
Further research to refine gene editing technology is needed Copenhagen, Denmark: Scientists have discovered that the cells of early human embryos are often unable to repair damage to their DNA. The researchers say that this has important implications for the proposed use of gene editing techniques to remove serious inherited diseases from embryos, as well […]
The chatbot will see you now: use of automation in the informed consent process for genomics research studies leads to wider reach and better understanding
Glasgow, UK: The informed consent process in biomedical research is biased towards people who can meet with clinical study staff during the working day. For those who have the availability to have a consent conversation, the time burden can be off-putting. Professor Eric Vilain, from the Department of Paediatrics, University of California, Irvine, USA, told […]
Research brings hope for early treatment of brain degeneration in ‘children of the night’
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 […]
Researchers identify how certain immune cells contribute to worse survival in patients with HER2-positive breast cancer
Barcelona, Spain: Patients with a type of breast cancer called HER2-positive are less likely to survive if their initial treatment fails to eradicate the tumour completely and they have high levels of immune cells called tumour infiltrating lymphocytes in the residual disease. Dr Federica Miglietta told the 13th European Breast Cancer Conference that normally tumour […]
New research reveals shared characteristics of unrelated ‘look-alike’ people
The question of the role of nature vs nurture in the development of human beings is still far from being settled. Although some of the questions have been answered by twin studies, in unrelated people researchers have to wait passively for the right model to appear. Now, for the first time, researchers have been able […]