Pediatric Biospecimen Procurement Center (BPC) Supporting the Developmental Gene Expression (dGTEx) Project

Program Director/Principal Investigator (Bell, Thomas, J.):
Project Summary:
Accelerating scientific discoveries across the entire spectrum of pediatric research requires advancing our
current understanding of the unique molecular profiles and physiologies in all healthy tissues across the human
body. The developmental Genotype-Tissue Expression (dGTEx) project will establish the first comprehensive
public resource correlating gene expression and genetic variation in pediatric tissues from all major organ
systems in the human body. This project will identify the molecular profiles in ~30 distinct tissue types from four
developmental groups: Early post-natal, Early childhood, Pre-pubertal, and Post-pubertal. dGTEx will capitalize
on new emerging methodologies to capture detailed evaluations on the developing brain and include options for
single cell analysis on multiple tissues. To advance our understanding of the Ethical, Legal, Social Implications
(ELSI) in pediatric tissue donation, dGTEx also includes an ELSI study to analyze these factors.
The data from dGTEx will provide an unrivaled research resource for clinicians and scientists to gain new insights
on the molecular milestones of regulatory processes that direct the development of healthy tissues. To support
the advancement of dGTEx, this proposal will establish the pediatric Biospecimen Procurement Center (BPC) to
provide the pediatric Laboratory Data Analysis Collection Center (LDACC) with suitable tissue samples for their
analysis. Our proposal includes a multi-institutional effort with extensive expertise in pediatric recoveries,
research, pathology, imaging, biobanking, brain research, and cutting-edge molecular techniques, such as single
cell analysis. The objectives for our BPC recovery team will be led by a collaborative effort amongst: 1) National
Disease Research Interchange (NDRI) to provide project management and coordinate the recovery collection
effort from a network of TSS, 2) Children's Hospital of Philadelphia (CHOP) to process, store, and coordinate
pathological review of all non-brain tissues and manage the bioinformatics workflow, and 3) NeuroBiobank at
University of Maryland (NBB-Maryland) to process, store, and provide pathological review of brains. This breadth
of expertise is essential for the BPC to provide well-annotated, suitable biospecimens to enable reliable and
reproducible results from the LDACC's cutting-edge experimental methods and rigorous data interpretations.
Improving our understanding of ELSI-specific challenges in pediatric tissue donation is an unmet need for the
research community. To enable a more complete analysis of these challenges, Johns Hopkins All Children's
Hospital (JHACH) will coordinate the dGTEx ELSI study to include evaluations of Tissue Requesters (TRs) and
Family Decision Makers (FDMs) of Deceased and At-Risk Children. Collectively, our BPC team is committed
to developing an all-encompassing, unparalleled BPC for the dGTEx project to empower the advancement of
pediatric research, ELSI challenges, and the development of new clinical approaches to treat pediatric disorders.
OMB No. 0925-0001/0002 (Rev. 03/2020 Approved Through 02/28/2023) Page Continuation Format Page

Grant Number: 5U24HD106537-04
NIH Institute/Center: NIH
Principal Investigator: Thomas Bell