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.

The researchers used machine learning to build predictive models for individuals’ future risks of nine common diseases, based on their genetic information and the biomarkers that they measured. The diseases studied were ischaemic heart disease, stroke, lung cancer, diabetes, chronic obstructive pulmonary disease, Alzheimer’s and other dementias, depression, liver disease, and colon cancer.

Reference:

Dr Jeffrey Barrett, et al,EUROPEAN SOCIETY OF HUMAN GENETICS

New gene therapy proving safe and successful in sickle cell patients’ treatment

Researchers presenting preliminary data from a clinical trial aimed at discovering a cure for sickle cell disease reveal positive results among its first patients.Sickle cell disease, a genetic blood disorder, is a painful and debilitating condition for which there are few approved therapies.

Researchers involved in the multicenter Ruby Trial presented an update on the safety and effectiveness of a single dose of EDIT-301, an experimental one-time gene editing cell therapy that modifies a patient’s own blood-forming stem cells to correct the mutation responsible for sickle cell disease.

Reference:

Rabi Hanna et al,CLEVELAND CLINIC