Medicine Bulletin 10/June/2023

Here are the top medical news for the day:

AI in eye scans helps improve diagnosis of inherited retinal disease

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 diagnosis. But now, researchers from the UK and Germany have used artificial intelligence (AI) to develop a system that they believe will enable more widespread provision of testing, together with improved efficiency.

Reference:

Dr Nikolas Pontikos et al,EUROPEAN SOCIETY OF HUMAN GENETICS

Blood biomarkers and genomics combo predicts common disease risk more accurately than only genomic information

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 to be presented at the annual conference of the European Society of Human Genetics on 10 June suggests that combining blood biomarkers with genomic information gives more accurate, cost-effective results.