Overview
 

The Challenge

There are many unanswered questions in pediatric research that are impeding the development of new diagnostics, treatments, and cures. One area of unmet need is the availability to the scientific community of well-curated medical, genomic, and physiological data from large numbers of children, as well as the computational resources to analyze these data. In some instances, data are already available but scattered in different locations, hindering the ability of researchers to fully analyze the data for new discoveries. In other instances, the data have yet to be generated. To address these challenges, Kids First will integrate dispersed data sources together into one location and provide support for analyses. The program will also provide funds to generate new data and facilitate deposition into a centralized database. When researchers have access to large and complete data sets, they will be able to answer new questions, explore different lines of research, and more efficiently conduct large-scale analyses, potentially leading to the development of prevention, early detection, and therapeutic interventions in children with cancer or structural birth defects.

The Gabriella Miller Kids First Pediatric Data Resource

Advances in genetic sequencing technology permit researchers to compile very large data sets by sequencing DNA from thousands of individuals, while improvements in computational tools allow scientists to perform complex data analyses that uncover new clues to the causes of diseases. Kids First will take advantage of these technological advances by creating the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource), a centralized database of well-curated clinical and genetic sequence data from dozens of childhood cancer and structural birth defects cohorts comprising thousands of patients and their families. The data resource also will incorporate other existing cohorts thus greatly expanding the data available and enhancing researchers’ ability to make new discoveries. Researchers will use the data resource to identify genetic pathways that underlie childhood cancer and structural birth defects and to explore whether shared genetic pathways exist between childhood cancer and structural birth defects. The Kids First Data Resource will provide many valuable services to the research community, such as:

• Serve as a centralized database to assemble dispersed data sources together into one location. Integrating data together increases the power researchers have for detecting new genetic pathways underlying childhood cancer and structural birth defects. These new pathways may help researchers discover novel treatments.
• Provide easy access to and querying of disparate data sets by researchers without bioinformatics expertise. Increasing the utility of genetics data maximizes its potential to yield new clues into the causes of childhood cancer and structural birth defects.
• Provide analytical tools for analyzing large and complex data sets encompassing genetic sequence and clinical data.

The Kids First Data Resource will be widely available to researchers across the entire biomedical research community. Kids First will support projects that use the data within the Kids First Data Resource to either uncover new insights into the biology of childhood cancer and structural birth defects or to develop new computational methods for analyzing genetics data. The Kids First Data Resource also will be available for researchers to use in their own studies supported by other funding sources. This is then expected to stimulate research toward more effective preventions and therapies for diverse conditions. The Kids First Data Resource will be under development by late 2017. For more information check out the FAQs page.

Why Focus on Childhood Cancers and Structural Birth Defects Together?

Pediatric conditions, such as childhood cancers and birth defects, have profound, lifelong effects on patients and their families. In the United States in 2014, an estimated 15,780 new cases of cancer were diagnosed among children from birth to 19 years, and an estimated 1,960 children died from the disease. One in 33 infants born in the United States has a birth defect. Birth defects are the leading cause of death during the first year of life and they account for half of all pediatric hospitalizations. The field of pediatric oncology and the field of developmental biology, which studies disorders like birth defects, have made major discoveries that advanced our understanding of disease and development. However, we still do not fully understand the role of genetics in these areas.

The Kids First Data Resource will aggregate genetic and clinical data from childhood cancer and structural birth defects patient cohorts together so that researchers can mine the data to uncover entirely new ways of understanding childhood cancer and structural birth defects. Children with birth defects are at a higher risk of also developing childhood cancer, suggesting that there are shared genetic pathways underlying some types of childhood cancer and structural birth defects. Analyzing genetic sequence data from children with childhood cancer and structural birth defects together may lead to the discovery of new genetic pathways that would not have been uncovered had the analysis only been performed using childhood cancer data alone, or vice versa. These new pathways may help researchers discover novel treatments. The current lack of available resources for researchers to perform these types of dual analyses are potentially impeding the ability to uncover new biological contributions to childhood cancer and structural birth defects, thus slowing the development of new diagnostics, treatments, and cures. The Kids First Data Resource will allow researchers to perform these types of analyses and hopefully accelerate research toward more effective preventions and therapies. For more information check out the FAQs page.

Kids First History

Prior to her death from cancer in 2013, 10 year-old Gabriella Miller called on Congress to increase support for pediatric research. In 2014, the Gabriella Miller Kids First Research Act  was signed into law, authorizing $12.6 million each year for 10 years to support pediatric research within the Common Fund. In fiscal year 2015, in accordance with this Act, Congress appropriated the first installment of $12.6 million to the Common Fund for pediatric research. Programs within the Common Fund are designed to meet specific criteria, and have the potential for high impact across a wide range of biomedical research fields, diseases, and conditions with the ultimate goal of improving human health. Pediatric research experts from across the NIH Institutes and Centers developed plans for this program and in January 2015, the NIH Council of Councils, the advisory group that reviews plans for new Common Fund programs, approved a plan for the Gabriella Miller Kids First Pediatric Research program (Kids First). The plan focused on building a pediatric data resource combining genetic sequencing data with clinical data from multiple pediatric cohorts.

Since the approval of this initial plan, NIH has continued to work with pediatric research experts across the NIH Institutes and Centers and within the biomedical research community to refine and develop plans for this program. For example, the NIH recently organized two workshops (yellow box) on Developing a Data Resource and Future Directions in Childhood Cancer Genetics Research. In fiscal years 2015 and 2016, Kids First provided $12.6 million each year in genetic sequencing services to childhood cancer and structural birth defects research cohorts with rich clinical data. The genetic sequencing and clinical data will form the foundation of the Kids First Data Resource which will be under development by late 2017.

Stay Up-To-Date on Kids First Activities

As this program evolves, the NIH will continue to engage with scientific experts and interested stakeholders to gather input on availability of pediatric cohort data, value to the research community, data standards, and other issues critical to the success of this program. Sign up for the Kids First email listserv to stay up-to-date on the activities of the program.

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