# Genetic and Stem Cell Model of Cardiac Metabolic Disease

> **NIH NIH R01** · STANFORD UNIVERSITY · 2020 · $53,214

## Abstract

PROJECT SUMMARY
Summary of Parent R01: Type 2 diabetes (T2D) is a long-term metabolic disorder affecting 12% of the US
population. It is a leading cause of death nationwide, primarily due to associated cardiovascular disease
(CVD, >65% of patients). While CVD risk factors include high cholesterol, hypertension, and smoking, a
subset of patients suffer from myocardial dysfunction, a term named type 2 diabetic cardiomyopathy
(T2DCM), which suggest factors within the cardiac myocyte itself may give rise to detrimental cardiac
remodeling associated with diabetes. Despite the obvious importance of T2DCM, there is currently no specific
effective treatment for it and a deep understanding of this complex disease at the molecular level is lacking.
Hence, resolving the contributing mechanisms of T2DCM is a pressing goal of basic and translational
research. The recent advent of new technological breakthroughs, such as patient-specific human induced
pluripotent stem cells (iPSCs) and genome editing, provides an unprecedented opportunity to study
associations between genetic variability and disease susceptibility. The overarching goal of our multi-PI R01
grant is to understand the underlying mechanisms of T2DCM using patient-specific iPSC-derived
cardiomyocytes and endothelial cells from T2D patients and to understand individual susceptibility to disease
development. We have assembled a team of highly accomplished clinicians and researchers in cardiac stem
cell biology, genomics, molecular genetics, biostatistics and bioinformatics. We are well positioned to achieve
the project goals within five years. Our proposal will enable a novel personalized approach to better
understand the mechanisms underlying T2DCM that could ultimately revolutionize treatment strategies.
Proposed Supplement: Hispanics and non-Hispanic Asians account for 23% of the US population based
on recent CDC data released in December 2019 and from a recent study published in the Journal of the
American Medical Association. Among 2,266 individuals diagnosed with diabetes of 7,575 US adults, the
prevalence of diabetes in the Hispanic population was 22.1%. In the proposed diversity supplement, we will
extend the scope of parent R01 to include an additional patient demographic involving Hispanics. Specifically,
we will expand the patient cohort with 20 additional individuals (10 T2DCM, 10 Controls) from the Hispanic-
American community. We will generate 3D cardiac organoids to characterize the functional changes in
cardiomyocytes and endothelial cells. These cardiac organoids will be exposed to hyperglycemic and
normoglycemic conditions to unravel the transcriptomic landscape using single-cell RNA sequencing. The
experiments will be carried out by Ms. Nicole Lopez.

## Key facts

- **NIH application ID:** 10150173
- **Project number:** 3R01HL146690-02S1
- **Recipient organization:** STANFORD UNIVERSITY
- **Principal Investigator:** THOMAS QUERTERMOUS
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $53,214
- **Award type:** 3
- **Project period:** 2019-04-01 → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10150173

## Citation

> US National Institutes of Health, RePORTER application 10150173, Genetic and Stem Cell Model of Cardiac Metabolic Disease (3R01HL146690-02S1). Retrieved via AI Analytics 2026-06-01 from https://api.ai-analytics.org/grant/nih/10150173. Licensed CC0.

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