Document text
Principal Investigator: THOMAS G BLANCHARD
Organization: NATIONAL DISEASE RESEARCH INTERCHANGE
Fiscal Year: 2024
Award: $2,343,364
Funding agency: Eunice Kennedy Shriver National Institute of Child Health and Human Development
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
Terms: <0-11 years old><21+ years old><Acceleration><Address><Adult><Adult Human><Anatomic Sites><Anatomic structures><Anatomy><Authorization><Authorization documentation><Autopsy><Bio-Informatics><Bioinformatics><Body System><Body Tissues><Brain><Brain Nervous System><Brain Pathology><Brain imaging><Cell Body><Cells><Cellular biology><Child><Child Youth><Childhood><Children (0-21)><Children's Hospital><Clinical><Clinical Investigator><Collection><Communities><Data><Data Analyses><Data Analysis><Data Collection><Data Storage and Retrieval><Development><Development and Research><Developmental Gene><Diagnosis><Disease><Disorder><ELSI><Encephalon><Ethnic Origin><Ethnicity><Evaluation><Exclusion><Family><GTEx><Gene Expression><Genetic Diversity><Genetic Variation><Genotype><Genotype-Tissue Expression Project><Grant><Health equity research><Hospitals><Human Figure><Human body><Image><Informatics><Infrastructure><Institution><Investigation><Investigators><Laboratories><Lead><Maryland><Methodology><Methods><Modeling><Molecular><Molecular Fingerprinting><Molecular Profiling><NIH><National Institutes of Health><Organ Procurements><Organ System><Pathologic><Pathologist><Pathology><Pb element><Pediatric Hospitals><Pediatric Research><Pediatric cohort><Permission><Philadelphia><Physiology><Population><Prepuberal state><Principal Investigator><Procedures><Process><Puberty><Quality Control><R & D><R&D><Race><Races><Recovery><Reliability of Results><Reproducibility of Findings><Reproducibility of Results><Research><Research Design><Research Personnel><Research Resources><Research Specimen><Research in health equity><Researchers><Resources><Risk><Sampling><Scientist><Site><Specialty><Specimen><Structure><Study Type><Technical Expertise><Techniques><Tissue Banks><Tissue Collection><Tissue Donations><Tissue Sample><Tissue imaging><Tissue repository><Tissues><Training><United States National Institutes of Health><Universities><adulthood><biobank><biorepository><brain research><brain visualization><cell biology><community advisory board><community advisory committee><community advisory panel><data exchange><data interpretation><data retrieval><data storage><data transfer><data transmission><design><designing><developmental><disparity in health><diversity, equity, and inclusiveness><early childhood><empowerment><equity, diversity, and inclusion><ethical legal and social><ethical, legal, and social implication><experimental analysis><health disparity><health equity-focused research><heavy metal Pb><heavy metal lead><hospital care><imaging><improved><insight><kids><medical specialties><molecular profile><molecular signature><necropsy><novel><operation><operations><pathology imaging><pediatric><postmortem><postnatal><prepubertal><prepuberty><programs><quality assurance><racial><racial background><racial origin><research and development><research on health equity><research related to health equity><research to attain health equity><single cell analysis><social culture><socio-cultural><sociocultural><study design><success><technical skills><whole slide imaging><youngster>