In 2012, nine-year-old cancer patient Gabriella Miller challenged Congress to “Stop talking and start doing.” Her words helped inspire the Gabriella Miller Kids First Pediatric Research Act and a federal commitment to speed research for children with cancer and congenital conditions.
More than a decade later, a new paper in The American Journal of Human Genetics (AJHG) shows what grew from that promise.
The NIH Gabriella Miller Kids First Pediatric Research Program leads this effort. Families take part in studies, Kids First researchers build data collections, and the Gabriella Miller Kids First Data Resource Center (Kids First DRC) creates the shared systems that bring those contributions together.
The publication, ‘The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies,’ looks at the model’s first ten years, the research it has supported, and where it can lead next.
Building a Different Kind of Research Resource
Researchers often collect data to answer a specific question. Once a study ends, the data may sit unused, even though they could inform new questions. Keeping data within one study, disease area, or organization also makes it harder to compare findings across research. This is a major barrier in rare childhood diseases, where each participant’s data can offer insight beyond the study for which they were first collected.
The Kids First DRC processes and harmonizes data, applying consistent methods and formats so researchers can compare information across studies. The Kids First DRC then makes the data available through the Kids First Portal and connected online tools. Researchers can find, access, combine, and analyze data across conditions without having to build their own technology systems.
The AJHG paper shows that researchers are using these resources. By the end of 2025, Kids First DRC had released data from 36 studies representing more than 38,000 children. More than 5,300 researchers had registered for the Kids First Portal. In addition, 1,168 applications had been approved to access protected study data, which requires authorization to safeguard participant privacy.
Researchers had also published 244 peer-reviewed articles using Kids First data, meaning other experts evaluated the work before publication. Nearly half of those articles did not include an investigator from the original study, showing that the data are reaching new research teams and supporting questions beyond those they were first collected to answer.
As Adam Resnick, PhD, Director of the Kids First DRC and one of the paper’s lead authors, expressed in the publication announcement, “Every contribution can strengthen the foundation for the next question, collaboration, and discovery.”
From Shared Data to Broader Discovery
Researchers have used Kids First DRC data to find shared genes behind conditions that may seem unrelated. One example links neuroblastoma, a childhood cancer that starts in developing nerve cells, with congenital heart defects.
Other teams identified genetic changes associated with poorer outcomes in congenital diaphragmatic hernia, neuroblastoma, and T-cell acute lymphoblastic leukemia. These findings may improve screening and help identify children at high risk.
Kids First DRC data has also helped researchers group diseases by their genetic features. These groups, known as molecular subtypes, can guide the search for more precise treatment options. This work includes acute lymphoblastic leukemia in children with Down syndrome and medulloblastoma, a childhood brain tumor.
Other studies have linked genetic changes to congenital anomalies that affect facial and cranial development, including cleft lip and palate and craniosynostosis.
The range of these findings is important. Some show connections among conditions once studied apart. Others help researchers understand risk, classify disease more precisely, or find treatment ideas worth further study.
These advances begin with families who took part in research and investigators who made their data available. The Kids First DRC gives each contribution more opportunities to support discovery.
The resource will keep growing through new studies, improved data processing, and methods for reading DNA in different ways. Kids First DRC will also add methylation data for the first time. This data shows chemical marks that help control how genes work. Richer clinical details and long-term information about children’s health could bring future findings even closer to care.
Every Contribution Carries Discovery Forward
Gabriella Miller’s challenge called for action. Today, that action is visible in a shared resource used by thousands of researchers and a growing body of published work.
Researchers no longer have to view the Kids First DRC as an untested idea. They can look to a decade of evidence, an active research community, and discoveries that show what connected pediatric data can make possible.
Read the full publication, then register for the Kids First Portal to explore how its data and tools can support your next research question.
Bluesky