DOI: 10.1177/19475535261468926 ISSN: 1947-5535

Targeted Biospecimen Collection to Meet High Priority Pediatric Health Needs: The Developmental Genotype-Tissue Expression Project

Patrick M. Van Hoose, Rebecca L. Linn, Melissa W. VonDran, Deanne Taylor, Thomas G. Blanchard, Raquel G. Hernandez, Melissa A. Faith, Gloria S. Pryhuber, Heidie L. Huyck, Alexandra N. LeFevre, Robert Johnson, Victoria H.J. Roberts, Anne D. Lewis, Lisa Anderson, Rothem Kovner, Mary Pfeiffer, Matthew McGillcuddy, Melissa Grimm, Johnathan Czaplicki, Casie Heinemann, Ahmad Salehi, Bhavani Sanagavarapu, Lawrence Suplee, Christina Ryan, Nicole DiMarino, Nicole Nissley, John Clarke, Aimee Chard, Michelle Gilbert, Emmitt Savannah, Joseph Kreeb, Russel Roberts, Victoria L. Corbit, Kristin Ardlie, Nenad Sestan, Thomas J. Bell,

Introduction:

The gene expression patterns that drive human development are not fully understood.

Objectives:

To address this major public health need for pediatric clinicians, scientists, parents, and children, the National Institute of Health established the Developmental Genotype-Tissue Expression (dGTEx) project to study tissue-specific gene expression during the normal pediatric development of human organs, tissues, and cells.

Methods:

Obtaining suitable, well-annotated pediatric biospecimens for innovative molecular methodologies and rigorous data analysis is both a high priority and unmet health need for the pediatric research community.

Results:

Here, we report on the advancements and challenges in dGTEx with pediatric-specific tissue collection methodologies, metadata collection, and tissue verification processes.

Conclusion:

Collectively, the procedures, data, and biospecimens from dGTEx will provide an unparalleled resource for pediatric clinicians and scientists. The aim of establishing this resource is to gain a better understanding of pediatric gene expression and regulation across all body systems and stages of development, with potentially deeper insights into, and the development of new treatment options for, both diseases of childhood and later-onset, developmental-linked diseases in adults.

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