Heart Disease Phenomics

The Laboratory of Heart Disease Phenomics, established in 2021, is dedicated to understanding the evolving burden of cardiovascular diseases (CVD) across diverse populations and its impact on health. Our research spans the entire CVD continuum—from etiology to outcomes (morbidity and mortality)—with a focus on health equity.

We rely on multi-omics approaches, and advanced analytical methods such as machine learning. Using descriptive epidemiology in large-scale, nationally representative datasets, we have documented the prevalence of CVD across different populations and highlighted significant disparities by race and sex. In disease-specific cohorts, we have demonstrated that novel molecular methods, such as proteomics and targeted metabolomics, can significantly enhance the assessment of heart failure (HF) risk, paving the way for precision interventions.

Our initial research focus has been on investigating heart failure (HF) phenotypes, prevention strategies, and outcomes. Despite a more than 40% decline in heart disease mortality in the United States between 1980 and 2000, this positive trend has stalled and even reversed since 2015 due to a significant increase in HF-related deaths. This alarming trend indicates that the HF epidemic, which began gaining attention in 1997, remains unresolved and undermines progress against heart disease mortality. These critical observations underscore the urgent need to address the HF epidemic, recognizing its complex, syndromic nature and its disproportionate impact on diverse populations.

HF is not a single disease and is traditionally classified based on ejection fraction (EF). However, this approach fails to capture the full complexity and heterogeneity of HF and its underlying mechanisms. These gaps in knowledge impede therapeutic progress, and treatment trials for HF with preserved EF have often been disappointing or lack mechanistic explanations when they are promising.

One of our key research areas is the study of novel molecular phenotypes and the application of contemporary analytical methods. Our goal is to identify molecular phenotypes that contribute to understand the mechanisms of HF, while considering its intersection with aging and multimorbidity in diverse populations. Our central objective is to develop a novel approach to HF phenotyping, which will support health equity and lead to the development of new therapeutics.

Our approach integrates molecular assays, robust epidemiological methods, and rigorous analytical techniques. We utilize comprehensive, multidisciplinary longitudinal datasets, including electronic medical records from thousands of community patients with HF, and have access to valuable biospecimens. This approach is grounded in our unwavering commitment to studying and engaging diverse populations.

Our team is committed to mentoring and training the next generation of diverse scientists. We collaborate actively with laboratories within the NHLBI Division of Intramural Research, other NIH institutes (NCI and NIA), and the broader scientific community, both nationally and internationally.