dGTEx Family Project Information

We are extremely grateful to the dGTEx donor families who have generously provided such precious gifts to support this important work.

What is dGTEx?

dGTEx is an NIH-supported initiative that will establish a scientific research resource of data in pediatric tissues to better understand the impact of genetic variation on health and disease. The data from dGTEx will help understand how tissues are different from one another, how those cells change during childhood development, and which cells might be the most important in the development and onset of childhood diseases. By studying how genes affect our health, scientists can better understand how to prevent and treat certain types of diseases and reduce health disparities among groups of people.

What is the impact of dGTEx?

dGTEx will allow scientists to explore how different cells within the body may contribute to various diseases. For example, pediatric cancers are distinct from adult cancers in how they develop and are treated. Normal pediatric tissue is needed to help improve diagnosis and treatments for pediatric cancer, like leukemia. By providing normal pediatric tissue to scientists, the dGTEx project will be an invaluable resource to help medical advancements for families of children with pediatric cancer.

“As we develop precision therapies including potent immunotherapies there is an urgent unmet need to understand what potential therapeutic targets are also expressed in normal childhood tissues. Using the current GTEx from adult tissues is useful, but we know that children, especially very young children have different gene expression patterns in their developing organs. The developmental GTEx will be a major tool to streamline pediatric cancer drug development decisions.”

– John Maris, MD, Professor of Pediatric Oncology, Children’s Hospital of Philadelphia

The dGTEx project will also allow scientists to evaluate how different cells within the brain may play roles in various neurological diseases and syndromes, such as epilepsy and autism spectrum disorder, potentially advancing our understanding of these neurological disorders commonly diagnosed in children. Understanding how children’s tissues, and the cells in those tissues, change through childhood development will help in understanding how pediatric diseases develop and how changes early in development can also lead to adult diseases later on.

How is the dGTEX study promoting Diversity, Equity, and Inclusion (DEI)?

dGTEx hopes that children and families everywhere will benefit from the project’s genetic and genomic discoveries, ultimately leading to new, life-saving treatments and the prevention of pediatric diseases. Past genetic research efforts have demonstrated limited inclusion of underrepresented groups, including racial and ethnic minorities, broadly restricting what populations benefit from this project.

The dGTEx project is trying to address these past gaps using a unique approach called, Diversity, Equity, and Inclusion 360⁰. In Diversity, Equity, and Inclusion 360⁰, we will work with many community stakeholders and create Community Advisory Boards (CABs).

Building upon dGTEx

dGTEx is an extension of the GTEx program, which the NIH launched in 2010 in response to a gap in the availability of human tissue samples and associated gene expression information. Donor families generously donated tissue samples for this project examining genetic variation across many different tissues in adults.

The GTEx Portal serves as a massive resource for the scientific community. The portal has been viewed over 1.8 million times and over 1400 scientific papers have been indexed in PubMed using GTEx data.  Scientists are working on advances in many disease areas including cancer, heart disease, and diabetes.