Project 2: Evaluation of Phenotypic Variability, Pathophysiology and Therapeutic Strategies in Fukutin-Related Protein Muscular Dystrophy
PI: Dr. Katherine Mathews
Dr. Mathews is exploring the pathogenesis of and possible treatment strategies for muscular dystrophy caused by fukutin related protein mutations through patient evaluation and development of a mouse model.
This collaborative project involves patient and complimentary mouse model studies to evaluate the pathogenesis and treatment strategies for FKRP muscular dystrophy. We are defining the clinical, molecular and biochemical profiles of patients with FKRP mutations to better understand the variability in the clinical presentation of this disorder. This study is enabling future therapeutic studies as (1) patient analysis may suggest covariates for therapeutic intervention, (2) potential therapeutic agents may be assessed for viability using the mouse model, and (3) our well-characterized cohort of patients may form the basis for future therapeutic trials.