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Big Data Biochemistry Research Impacts Clinical Discovery


 A person with gloved hands pushes a tray of genetic material into a machine for genetic sequencing.

Big data biochemistry research, also known as omics, involves measuring biochemical molecules ranging from hundreds to hundreds of thousands. This approach allows investigators to understand data on a much larger and different scope and scale, in contrast to traditional biomarker strategies that focus on single molecules or small panels.

Areas of research categorized as omics include genomics (DNA), transcriptomics (RNA), proteomics (proteins) and metabolomics (metabolites).

Omics research begins with inductive reasoning, identifying unanticipated patterns in the data, followed by hypothesis-driven science. It can transform a basic profiling study into an exploration of deeper realms, with the potential to directly impact patient care.

Applications for omics research include a thorough exploration of the biological systems affected in complex diseases, identification of candidate molecules and pathways for subsequent study of disease mechanisms and translation to clinical care through the development of novel biomarkers and medical therapies.

Congenital heart disease, characterized by abnormalities in the structure of the heart that affect how it functions and circulates blood, is an optimal application for an omics approach for several reasons:

  • Disease complexity
  • Longitudinal nature
  • Repeated physiological derangement (disturbance of normal bodily function), including:
    • Direct surgical trauma
    • Ischemia‐reperfusion injury
    • Systemic inflammation
    • Low blood flow to vital organs
    • Chronic cyanosis (low blood oxygen levels)
  • Potential for interventions needed (i.e., pediatric heart surgery, cardiac catheterization, heart transplant)

Around 40,000 babies born each year in the U.S. are affected by congenital heart disease, and approximately 25% require intervention within the first year of life. More than 10% of infants won’t survive high-risk surgery, and 30% to 40% of infants who do survive surgery will face complications.

Published omics research in congenital heart disease

Two physician scientists at the Children’s Hospital Colorado Heart Institute have spent several years conducting omics-based research to better understand why infants with congenital heart disease who undergo complex cardiac surgery are at an elevated risk for poor outcomes.

Jesse Davidson, MD, MPH, associate medical director of the Child Health Research Enterprise, and Benjamin Frank, MD, published their first omics-focused paper in 2018, where they sought to characterize metabolomic changes caused by surgery in these patients. The pair, along with research collaborators at Children’s Colorado and University of Colorado School of Medicine, have since conducted several additional, related multi-omics studies.

Presentations of preliminary research findings

Drs. Davidson and Frank, along with their research colleagues, have many ongoing studies that continue to edge them closer to discovering new approaches for clinical care and treatment to improve outcomes for patients with congenital heart disease.

In August of 2023, team members presented the preliminary findings of several studies at the World Congress of Pediatric Cardiology and Cardiac Surgery in Washington, DC.