dGTEx Study Information for Families
The dGTEx project would not be possible without the generosity of donor families who have provided such precious gifts to support this important work. We are grateful to them and their child’s legacy.
What is dGTEx?
The NIH (National Institutes of Health) supports dGTEx. The goal of the project is to create a tissue and data resource that can help scientists understand how genetic changes during development can impact health and disease. By researching how genes change during childhood, scientists can better understand how to prevent and treat many diseases. It is also important to collect tissues from children of all different backgrounds to help reduce health disparities.
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 disease.
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“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 [project] will be a major tool to streamline pediatric cancer drug development decisions.”
– John Maris, MD, Professor of Pediatric Oncology, Children’s Hospital of Philadelphia
How will our dGTEx donation be used?
The dGTEx project contains three phases designed to broaden our understanding of how organ and tissue systems develop and how genes and genetic markers affect this development. This research will then be used to develop new tools and treatments for children.
Phase 1: What will we learn?
Most of what we know about how tissues and organs develop across the lifespan comes from research done with adults.
Very little is known about how organ systems and tissues develop in children. Discovering how tissues and organ systems develop is critical to understanding how disease impacts both children and adults, including how we might be able to prevent disease. In this phase, scientists will set the foundation for this ground-breaking study by:
- Maximizing impact: Study teams will learn how to maximize each donation’s impact, using new innovative imaging and analytic tools. Study teams will include scientists around the country who will work together to ensure each donation is able to impact as many people in the future as possible.
- Focusing on differences: Study teams will explore the key differences between pediatric and adult tissues (building on the foundation from previous adult studies).
- Developing a data sharing framework: Study teams will build a plan to be able to share dGTEx data and tissues across the scientific community in later study phases.
Phase 2: What will we learn?
This phase will provide new understanding about how genes impact children’s tissue, cell, and organ structure
and function.
- Understanding genomic data: Scientists will use new methods to gather and analyze genomic data across organ systems with greater accuracy and detail. For example, scientists will learn how to better detect gene variations that could predict childhood diseases.
- Identifying associations: Scientists will begin to identify how specific genes and genetic markers are associated with childhood illness and disease.
- Exploring gene function: Scientists will use new methods to understand which genes may influence how organs develop and work in children, from infancy through the teenage years.
- Collaborative research: In this study, scientists and doctors from around the country will work together to develop new ways to effectively and efficiently collaborate and share genomic
Phase 3: What will we learn?
The dGTEx resource will allow scientists across the world to study child development and disease in all organ systems, all in a more streamlined and sustainable way.
- Scientific discovery: Scientists will identify how specific genes and environmental factors interact and use that information to help predict childhood diseases.
- Improving how we identify risks: Scientists will learn how to improve tests and screening approaches for children to better identify diseases early and allow for better treatment.
- Exploring new treatments: With these new discoveries, scientists and physicians will also work to explore, refine, and create new treatments tailored for childhood diseases.
How is the dGTEX study promoting ELSI?
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. We will work with many community stakeholders and create Community Advisory Boards (CABs).
“In donating her heart tissues, my Laila saved a life. In my participation in the dGTEx project as an advisory member, I am contributing on her behalf to save humankind. Because of Laila, and for Laila.”
– Dalal AlQadeeri, Donor Parent
Building upon GTEx
dGTEx builds on a similar program that researchers launched to study adult tissues in 2010. The adult tissue library and database have been massive resources for scientists. That database has been viewed over 1.8 million times and more than 1,400 scientific papers have come from it. Researchers are using this tool to help advance our understanding and treatment of many diseases like cancer, diabetes, and heart disease. Because the adult-focused program has had such huge benefits to science and medicine, the NIH is expanding the effort to pediatrics. The dGTEx project is similar to the previous program, but this time with children.
Superheroes come in all sizes
Your child’s donation can help scientists better understand how we are similar and also what makes us unique. Donor medical records and genetic information will be stored in a secure database with the donor’s identity remaining confidential.
“As a mom of a child with complex medical issues, including cancer, I am always so thankful for all the knowledge and research that has been done to understand how genetics play a role in the treatment and maybe even how it could contribute to the prevention of certain diseases in the future. To the families who have selflessly given organ or tissue donations from their loved ones in order to help advance our understanding of treatment for children, like my daughter, thank you doesn’t seem adequate enough. I am truly in awe of their honorable decision to donate towards making an impact in the lives of future generations.”
– Shawna Glynn, Donor Parent
“Given that [my son], Kaden’s, particular kind of cancer was a genetic mutation, I think it is wildly important that genetic research can continue. How else are they going to cure rare childhood cancers and other illnesses if they can’t figure out the origin? It strikes me that, even long after they are gone, their donation could still lead to a breakthrough in treatment, maybe even for the disease that took them from us in the first place. It is so very meaningful. We want our kids to live on and this is a way they can do it.”
– Raegan Batterson, Donor Parent
