Bio
I am a physician scientist with interests in cardiomyopathies, rare and undiagnosed diseases, therapeutics and genomics. I am a physician with interest and experience treating patients with hypertrophic cardiomyopathy, neuromuscular disease associated cardiomyopathies including adults with Duchenne and Becker muscular dystrophies, myotonic dystrophy, limb girdle muscular dystrophies, inherited dilated cardiomyopathies, advanced heart failure, mechanical circulatory support/LVADs, heart and multiorgan transplant, and competitive athletes with cardiac disease. I am Director of the Stanford Center for Undiagnosed Diseases, a clinical site of the Undiagnosed Diseases Network.. I have extensive translational science efforts, as site PI for ongoing clinical trials for hypertrophic cardiomyopathy and dilated cardiomyopathy and for cardiomyopathy consortia including NONCOMPACT, PPCM and the Precision Medicine Study/DCM Consortium. I am Co-PI of the GREGoR Stanford Site, a research center of the GREGoR Consortium, and Co-PI of the NIH-funded Bioinformatics Center of the Molecular Transducers of Physical Activity Consortium. Our laboratory efforts focus on advancing diagnostic and therapeutic approaches in ultrarare diseases, with a focus on RNA-based diagnostics and therapeutics. I pursue projects and collaborations at the intersection of striated muscle genetics, genomics, therapeutics and clinical investigation.
