Joel Chamberlain, PhD

Scientific Advisor

Joel’s passion for biology and long-term goal of finding treatments for disease began with early work in the laboratory of C. Thomas Caskey, investigating the genetics of Duchenne muscular dystrophy (DMD). While she earned her PhD at the University of Michigan, she studied the molecular precursors of tRNA processing, sparking her desire to create ‘molecular’ therapies for disease. Eary in her career, she developed an RNA interference (RNAi)-based approach for treating facioscapulohumeral muscular dystrophy (FSHD) and myotonic dystrophy (DM). Undeterred by the limited FSHD mouse models, she created the AAV-DUX4 mouse to probe the FSHD disease mechanism and for therapeutic RNAi testing. She initiated DM AAV-RNAi proof of concept testing in the HSALR mouse model and in partnership with Audentes Therapeutics produced DMPK RNAi expression cassettes for testing in DM1 patient-derived iPSCs and in DM1 mouse models. Collectively, she has laid the groundwork for identifying critical molecular targets for FSHD therapy development, from which she has identified several candidate FSHD blood biomarkers for clinical use. Her laboratory has fostered fruitful collaborations as a member of ISCRM at the University of Washington, which has positioned them to move forward on AAV-RNAi gene therapy for DM, FSHD, and other dominant muscular dystrophies.