Home Department: Biology
Supported by: Bio-X
Mentor: Joseph Wu, Medicine (Cardiovascular) and Radiology
One of the most common genetic heart diseases in the nation is familial hypertrophic cardiomyopathy (HCM), in which there is a thickening of the heart muscle. Sophie is studying the pathogenicity and molecular basis for functional defects of a mutation in a gene implicated in HCM causation. The project demonstrates the clinical significance of the mutation and the value of genome editing technology in disease modeling and personalized medicine, and may also lead to better diagnostic and therapeutic modalities for patients with HCM.
Poster presented at the Stanford Bio-X Interdisciplinary Initiatives Symposium on August 24, 2017:
Investigating NAA10 Mutation-Based Cardiac Dysfunction Using Human iPSC Disease Modeling
Sophia Zhang1, Ning Ma1, Joseph Wu1
[Department of Medicine (Stanford Cardiovascular Institute1), Stanford University]
