Data Coordinating Center: B2B CHANGE Cohort
openNHLBI - National Heart Lung and Blood Institute
PROJECT ABSTRACT
Congenital heart disease (CHD) occurs in approximately 40,000 infants in the United States each year. The
National Heart, Lung, and Blood Institute (NLHBI) launched its Bench to Bassinet Program (B2B) in 2009 to
overcome the major barriers in translational research, identify the causes of human CHD, and improve
outcomes for individuals with CHD. Through the Congenital Heart Disease GEnetic NEtwork Study (CHD
GENES), the B2B program has enrolled over 14,000 participants with CHD and 18,000 family members,
conducting genomic sequencing to identify an estimated 25% of previously unexplained CHD cases. Despite
these advances, critical gaps persist in our understanding of how genetic variants influence genotype-
phenotype correlations and long-term outcomes in CHD. Although not initially designed as a longitudinal
cohort, the NHLBI recognized the unique potential of the CHD GENES and directed the coordinating center
(CC) to organize deep phenotyping and re-enrollment of a subset of participants for an in-person clinical
assessment and to make the data available to the scientific community as the B2B Congenital Heart disease
Advancing New understanding in GEnomics (CHANGE) Cohort. The new iteration of the CC is a unique,
integrated combination of world-leading cardiovascular and clinical/translational research expertise, advanced
infrastructure, outstanding operational support, and state-of-the-art technology. The specific aims are to: 1)
Establish and maintain the B2B CHANGE Cohort, 2) Create a unique resource for CHD research by integrating
new data sources with the existing clinical and genomic information maintained in the B2B DataHub
(HeartsMart) and shared with NHLBI’s BioData Catalyst system, and 3) Ensure the CHD community has the
necessary access, tools, and support to translate B2B data into improved health and quality of life for those
affected by CHD. B2B CHANGE will be established using a multifaceted and patient-informed cohort outreach
and engagement approach incorporating nationally recognized expert leadership and consultation and
adaptation to local contexts as appropriate. Innovative clinical assessments and technical advancements to
HeartsMart will expand and enrich existing phenotyping approaches, extend the duration of follow-up, and
allow for new biological sample acquisition for future mechanistic and translational studies. Through resources
including HeartsMart and BioData Catalyst, and extensive outreach, education, and engagement, the CC will
ensure the CHD community has access to this vital resource to support rigorous, independently funded,
investigator-initiated ancillary studies. The B2B CC has provided excellence in administrative support and
coordination for the B2B program for the previous two funding cycles and will continue to be a successful
partner with site investigators, the NHLBI, and the CHD community, leading the coordination of knowledge and
data for this important cardiovascular research effort.
Up to $6.5M
health research