Need Help?
Copied to clipboard!

Developmental Genotype Tissue Expression (dGTEx) Project

Lay Description

The aims of the Developmental Genotype-Tissue Expression (dGTEx) Project are to study changes in gene expression and regulation that affect both normal growth and impact health and disease in a pediatric cohort, spanning birth to age 18. Children are often underrepresented in clinical research, and most genomics studies primarily use adult donors and tissues that lack insight into specific developmental changes that occur in childhood.

dGTEx researchers are studying genes from different tissues obtained from across pediatric development to create a database that researchers can use to study how genes change throughout childhood. The dGTEx project also includes a study of the donor consent process to help ensure that the goals of the project and participation in the project effectively address the concerns and expectations of donors and their families in the study.

Scientific Description

Despite considerable variation in expression patterns across tissues and individuals, these patterns are relatively stable throughout adulthood, where most human gene expression studies have been performed. The changes in gene expression that occur during postnatal development are largely unstudied, yet lead to important milestones in health and disease, such as the onset or cessation of growth spurts or puberty, and the development of both childhood specific diseases, as well as diseases that manifest much later in life.

The goal of the developmental Genotype-Tissue Expression (dGTEx) project is to establish a resource database in which to study the relationship between gene expression and other molecular phenotypes in multiple relatively healthy reference neonatal, pediatric, and adolescent tissues, building on the original (adult) GTEx project.

This study aims to recruit at least 120 donors with a total of ~30 donors per age group, in each of 4 developmental windows: Infant: 0-2 yo, Early Childhood: 2-8 yo, Pre-pubertal: ~8-12.5 yo, Post-pubertal: ~12.5-18 yo. Donor tissue collection protocols have been developed to maximize the diversity of quality tissues recovered, with a minimum of 20 to a maximum of 74 different tissue sites sampled per donor.

The pediatric study is complemented by the Non-Human Primate Developmental GTEx (NHP-dGTEx) project which will also catalog and analyze transcriptional profiles across a wide variety of tissues at multiple developmental stages from two species of non-human primates: Macaca mulatta (rhesus macaque), an old world monkey, and Callithrix jacchus (common marmoset), a new world monkey.

The main goal of the project is to create a parallel data resource of tissues from individuals at each of 6-8 developmental stages, to enhance understanding of developmental changes and allow cross-species, temporal comparisons of gene expression, and cell-type specific gene and epigenetic data across different stages of primate development.