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Lead investigator

Research Sites & Affiliations

• University College London, London, United Kingdom

Funding partners: Muscular Dystrophy Canada ,   Cure CMD

Budget: $65,000 USD

Disorders: Collagen 6-related dystrophy (Bethlem and Ullrich congenital muscular dystrophies)

Research Areas: Discover Novel Treatments & Therapies

Abstract: 

How changes in Col6 gene lead to the various symptoms seen in Col6-RD is still a poorly understood which limits amongst others clinical trial development and identification of potential drug targets. This study will develop 3D muscles created from patient-derived iPSC- myogenic and fibrogenic cells, a critical step to further understanding this disorder as well as establishing genetically relevant models to test future COL6-RD therapies.

Impact: