Therapeutic area: Neuromuscular Disorders
Disease: Myotonic Dystrophy Type 1 (MD-1)
Monogenic inroad: DMPK
Cellular Model: Patient derived skeletal muscle cells
Project Origin: I-Stem, Cécile Martinat and Prof Marc Peschanski
Medical need: MD1 is a type of muscular dystrophy that affects the muscles and other body systems. Its classic form is characterized by muscle weakness and wasting, prolonged muscle tensing, cataract, and often, abnormal heart function. Adults with the classic form often become physically disabled and have a shortened life span. MD1 is inherited in an autosomal dominant manner and is caused by mutations in the DMPK gene. There is currently no disease specific treatment option available
Goal: The program aims for development and implementation of physiologically highly-relevant cellular disease models (assays). Assay development is based on human differentiated induced pluripotent stem cells (iPSC), and goes with tailored AI-based image analysis methodologies. The assays are rendered applicable for HTS-HCS, and will be used for the development of disease modifying treatments.
Development stage: Large scale screening ongoing