Neuromuscular diseases such as spinal muscular atrophy are rare diseases. Although more than 400 of these genetically determined diseases are known, only a handful of them have a cure. Scientists and organisations from the pharmaceutical research and biotechnology sectors in North Rhine-Westphalia want to change this with the interdisciplinary consortium ‘B2B-RARE – Bench to Bedside’. Their goal is to use skin cells from patients to develop precision diagnostic and therapeutic procedures.
This project aims to give new medical prospects to individuals whose existing treatments have been unsuccessful or for whom there are currently no treatments available for their neuromuscular disease. Among them are children and young adults for whom there is still no cure or even relief from their condition. To improve their quality of life, researchers at Essen University Hospital, Heinrich Heine University Düsseldorf, ISAS, BG University Hospital Bergmannsheil Bochum, Lead Discovery Center GmbH and Singleron Biotechnologies GmbH are working hand in hand. They are using omics technologies (holistic characterisation of, for example, all genes, proteins or metabolites using mass spectrometry) and bioinformatics, including artificial intelligence (AI). Their aim is to identify therapeutically relevant disease mechanisms, find new drug treatment options and transfer these into clinical application – i.e. to the bedside. The three-year project started in September 2024.