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Targeted Biospecimen Collection to Meet High Priority Pediatric Health Needs: The Developmental Genotype-Tissue
Patrick M Van Hoose1, Rebecca L Linn2, Melissa W VonDran1
1National Disease Research Interchange, Philadelphia, PA, USA.
Insights
The Developmental Genotype-Tissue Expression (dGTEx) project collects pediatric tissues to map gene expression during development. This resource aids understanding of childhood diseases and informs new treatment strategies.
Area of Science:
- Developmental Biology
- Genomics
- Pediatric Medicine
Background:
- Gene expression patterns during human development are not fully understood.
- A significant public health need exists for pediatric clinicians, scientists, parents, and children regarding developmental gene expression.
Purpose of the Study:
- The National Institute of Health established the Developmental Genotype-Tissue Expression (dGTEx) project.
- To study tissue-specific gene expression during normal pediatric development of human organs, tissues, and cells.
Main Methods:
- Collecting suitable, well-annotated pediatric biospecimens.
- Employing innovative molecular methodologies and rigorous data analysis.
- Addressing the high priority and unmet health need for pediatric research.
Main Results:
- Reporting advancements and challenges in the dGTEx project.
- Detailing pediatric-specific tissue collection methodologies.
- Highlighting progress in metadata collection and tissue verification processes.
Conclusions:
- The dGTEx project provides an unparalleled resource of procedures, data, and biospecimens for pediatric clinicians and scientists.
- This resource aims to enhance understanding of pediatric gene expression and regulation across all body systems and developmental stages.
- Potential for deeper insights into childhood diseases and developmental-linked adult diseases, leading to new treatment options.
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.

