About

Kiran Musunuru,
MD, PhD, MPH, ML

Kiran Musunuru, MD, PhD, MPH, ML, is an Associate Professor of Cardiovascular Medicine and Genetics in the Perelman School of Medicine at the University of Pennsylvania. Dr. Musunuru studied and trained at Harvard University, Weill Cornell Medical College, The Rockefeller University, Brigham and Women’s Hospital, Johns Hopkins University, and University of Pennsylvania. His research focuses on the genetics of heart disease and seeks to identify genetic factors that protect against disease and use them to develop therapies to protect the entire population. In his recent work he has been using gene editing to create a one-shot “vaccination” against heart attacks.

Dr. Musunuru is an actively practicing cardiologist as well as a committed teacher. He is a recipient of the Presidential Early Career Award for Scientists and Engineers from President Barack Obama at the White House, the American Heart Association’s Award of Meritorious Achievement, the American Philosophical Society’s Judson Daland Prize for Outstanding Achievement in Clinical Investigation, the American Federation for Medical Research’s Outstanding Investigator Award, and Harvard University’s Fannie Cox Prize for Excellence in Science Teaching. He recently served as Editor-in-Chief of the scientific journal Circulation: Genomic and Precision Medicine.

Learn More

3

My Mission

My personal mission is to improve human health through research, patient care, volunteerism, and education on heart disease and genetics.

My research laboratory focuses on:

(1) the discovery of novel genetic variants associated with disease and its risk factors; (2) understanding how these genetic variants influence gene function; (3) characterizing the implicated genes and their effects on disease phenotypes; and (4) using these insights to initiate the development of novel therapeutics.

A key element of my research program is to use human model systems and humanized model systems—e.g., genetically modified human embryonic stem cells and induced pluripotent stem cells and tissue types differentiated from these cells, mice in which organs such as the liver or portions of the mouse genome have been replaced with the human equivalents—to study human genetic variation. Our work in discovering and characterizing SORT1 and ANGTPL3 as low-density-lipoprotein cholesterol genes using genome-wide association studies and exome sequencing studies and subsequent functional analyses in mice and cell-based models (Musunuru et al., Nature 2010; Musunuru et al., N Engl J Med 2010; Stitziel et al., J Am Coll Cardiol 2017) has provided a template for the investigation of many genetic loci found to be associated with blood lipid levels (Teslovich et al., Nature 2010; Pashos et al., Cell Stem Cell 2017; Liu et al., Nat Genet 2017) and other cardiometabolic phenotypes. We have established protocols by which to use engineered TAL effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeats (CRISPR)-CRISPR-associated 9 (Cas9) to introduce genetic alterations (knockouts, knockins, reporters) into human cells for disease modeling and drug screening (Ding et al., Cell Stem Cell 2013a; Ding et al., Cell Stem Cell 2013b; Veres et al., Cell Stem Cell 2014; Pashos et al., Cell Stem Cell 2017).

We are also working to develop therapeutic and diagnostic applications of genome editing for cardiovascular diseases (Ding et al., Circ Res 2014; Chadwick et al., Circulation 2018; Rossidis et al., Nat Med 2018; Lv et al., Circulation 2018).

Share This