Savannah Coppersmith
Pronouns: she/her
Research Mentor(s): Adam Helms
Research Mentor School/College/Department: Internal Medicine / Cardiovascular Medicine / Medicine
Program:
Authors: Savannah Coppersmith, Aaron Renberg
Session: Session 4: 1:40 pm – 2:30 pm
Poster: 3
Abstract
Hypertrophic cardiomyopathy is an inherited heart muscle disorder in which the walls of the heart become enlarged and stiffened. This disease has a high morbidity rate, and limited treatment options are currently available. This study seeks to better understand how genetic non-coding variants affect cardiomyopathy severity. To determine effects of non-coding variants, we are implementing a new gene editing find-and-replace technique known as prime editing, which allows small insertions or deletions in DNA. We are developing techniques that will enable us to directly edit genomes of human induced pluripotent stem cell cardiomyocytes (iPSC-CMs), which has been a major technical hurdle. During this project, we have successfully cloned prime editing constructs into a lentiviral expression system that will enable editing in iPSC-CMs. We have also begun testing the system using transient transfection in other cells lines. After validating the system, prime editing will be used to efficiently test the effect of noncoding variants on expression levels of cardiomyopathy associated genes.
