201910 Developmental Genotype-Tissue Expression (dGTEx) Project

Program seeks Council approval for an initiative titled “Developmental Genotype-Tissue Expression Project.” 

Organs and tissues are made up of a complex mixture of different cell types, each with essentially the same genetic code but distinct biology, due to differences in gene expression patterns. Just as some genes are turned “on” and “off” across different cell types, some are also turned on and off at different times during development within the same cell type. Despite considerable variation in expression patterns across tissues, these patterns are relatively stable throughout adulthood, when most expression studies have been done. The changes in gene expression that occur during prenatal, neonatal, and pediatric development that lead to the onset or cessation of growth spurts or puberty are largely unstudied.

The Genotype-Tissue Expression (GTEx) project was a Common Fund initiative that began in 2010 and included whole genome sequencing (WGS), whole exome sequencing (WES), and RNA sequencing from multiple tissues in nearly one thousand adult post-mortem donors. GTEx resources are valuable tools for exploring the genetic basis of complex human diseases. The recently completed project developed a pathway to catalog and analyze transcriptional profiles from a wide variety of tissues, and serves as a useful resource for the research community. This experience in adults lays the groundwork to initiate a similar project to understand the typical patterns of gene expression during development. This new initiative, developmental GTEx, will create a resource database and tissue bank to study gene expression patterns in multiple tissues during neonatal, childhood and adolescent development and associate them with genomic sequence variation. In addition, preparatory activities will explore mechanisms to encourage tissue donation and develop effective approaches to potential neonatal and pediatric donors, and facilitate partnerships with organ procurement organizations, medical examiners, palliative care groups.

This activity grew out of joint activities between the NHGRI and NICHD which culminated in a workshop held in April 2018 entitled “Genomic Medicine for Reproductive, Prenatal, and Neonatal Health.” Both institutes are committed to this initiative and we are seeking additional partners from other NIH institutes and centers.

Program Contact

John Illekis
Pregnancy and Perinatology Branch (PPB)


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