Funds from the Gabriella Miller Kids First Pediatric Research Program will establish a "first-in-kind" data discovery and sharing platform to support collaborative pediatric research
The Center for Data Driven Discovery in Biomedicine at Children's Hospital of Philadelphia (CHOP) will lead a new, collaborative effort funded by the National Institutes of Health Common Fund to discover the causes of pediatric cancer and structural birth defects through the use of big data. The Center will be known as the "Kids First Pediatric Data Resource Center" (DRC).
Investigators at CHOP, in partnership with the Ontario Institute for Cancer Research, the University of Chicago, Children's National Health System, the Oregon Health and Science University and Seven Bridges, will create a centralized, cloud-based database and discovery portal 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. Partner organizations will provide expertise in the following areas:
- The Ontario Institute for Cancer Research will support the innovative design and development of the Kids First Data Resource Portal (DRP) and associated web-based analytic tools for Kids First's disease-specific data sets.
- University of Chicago will partner in the management and optimization of large-scale, genomic data processing for the Kids First initiative. They will also support the data coordination efforts by establishing cloud-based, open-source software needed for the operations of the Data Coordination Center within Kids First.
- Children's National Health System will support project-specific efforts for the Administrative and Outreach Core within Kids First, and will also coordinate additional foundation and consortia-based partnerships for the generation of new, large-scale pediatric cancer and birth defects data.
- Oregon Health and Science University will provide resources and new technologies to the Data Coordination Center to support community standards and frameworks for reproducible genomic analysis. They also provide a deep knowledge of cross-disease analysis, especially in cancer.
- Seven Bridges will further develop the scalable, cloud-based data analysis platform using the infrastructure the company co-developed and deployed CAVATICA platform with CHOP. This platform will help researchers collaboratively analyze genomic data sets and provide access to Kids First data to the entire scientific community.
"Scientists are beginning to recognize the developmental biology connections between structural birth defects and pediatric cancers, and building on that shared understanding, we can now leverage new technologies, cloud computing, and sophisticated algorithms for collaborative discovery to develop improved, less toxic therapies," said Adam Resnick, PhD, Director of the Center for Data Driven Discovery in Biomedicine (D3b) at Children's Hospital of Philadelphia.
The Kids First Data Resource Center will allow researchers to instantly search large genomic datasets using new data visualization tools and cloud-based data-sharing platforms. Researchers will be able to identify genetic pathways that underlie and may possibly link childhood cancer and structural birth defects, such as congenital heart defects, hearing loss and cleft palate. Additionally, the DRC will develop new analytical tools to provide the research community with access to this large-scale data for use in the discovery of novel and improved treatments for children diagnosed with cancer or structural birth defects.
A lack of available resources and access to large-scale pediatric disease data limits the ability of research scientists to uncover new clues for biological discoveries of childhood cancer and structural birth defects, slowing the development of new diagnostics, less toxic treatments, or cures. The Kids First Data Resource Center will provide for non-siloed and integrative access to both genomic and clinical data across cancer and birth defects, a first in the pediatric research community.
The National Institutes of Health Common Fund's Gabriella Miller Kids First Pediatric Research Program recently announced the award to establish the DRC. Contingent on available funds, the award is expected to provide funding for five years of up to a total of approximately $14.8 million. Within the NIH, the Kids First program is primarily led by four Institutes and Centers (ICs) -- the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Cancer Institute (NCI), the National Human Genome Research Institute (NHGRI) and the National Heart, Lung and Blood Institute (NHLBI), in partnership with the Office of the NIH Director and with additional involvement of several other key NIH Institutes and Centers.
"NICHD is committed to supporting research on birth defects as part of its overall focus on improving the health of children," said Dr. Diana Bianchi, Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. "The Kids First initiative provides a unique opportunity to use DNA sequencing information to gain a better understanding of the underlying causes of birth defects and childhood cancers."
Analyzing data from different disease types is crucial to the biological understanding and precision treatment of pediatric diseases, as studies suggest that children born with birth defects are at a higher risk of developing childhood cancer, currently the leading cause of disease-related death in children.
"For clinicians, structural birth defects and cancer have been some of the most challenging areas of pediatric medicine. For the first time, clinicians and researchers, along with academic, government and commercial partners, are coming together to fully harness the power of emergent technologies, shared data, and precision medicine. This collaboration will lead to improved outcomes for every child across all of these diseases," said N. Scott Adzick, MD, Surgeon-in-Chief of Children's Hospital of Philadelphia and Director of the Center for Fetal Diagnosis and Treatment at CHOP.
Approximately 6,000 patient samples will be ready for analysis at the inception of the Kids First project, growing to more than 25,000 by 2018, making it the largest pediatric data cohort of its kind.
In addition to the development of the Kids First Data Resource Center, CHOP investigators will also contribute to the generation of large-scale data from associated Kid's First Program sequencing efforts across pediatric cancer and structural birth defects, including data from neuroblastoma samples collected by CHOP oncologist Dr. John Maris through the Children's Oncology Group and structural birth defect and cancer samples collected by Dr. Hakon Hakonarson of the Center for Applied Genomics at CHOP.
The Kids First DRC will also integrate data from consortia-based efforts including the Children's Brain Tumor Tissue Consortium (CBTTC) and the Pacific Pediatric Neuro-Oncology Consortium PNOC), which will contribute data collected from more than 2,000 children with brain tumors.
"It is only through an authentic partnership with patients and families and the integration of efforts across disciplines, from surgery to oncology to genetics, within and across institutions, that these efforts are made possible," noted Phillip (Jay) Storm, MD, Chief of the Division of Neurosurgery at Children's Hospital of Philadelphia. "The Kids First DRC will continue to work closely with partnered foundations, disease-specific consortia and other partners in support of patients and their families."
The Kids First Act was established in April 2014, less than six months after 10-year-old Gabriella Miller, an advocate for childhood cancer research, died from an inoperable brain tumor. Her efforts to raise awareness of childhood cancer raised hundreds of thousands of dollars for children's cancer charities and launched Smashing Walnuts, a foundation dedicated to childhood brain cancer research. As a result of these advocacy efforts, Congress passed the Gabriella Miller Kids First Research Act to direct funding into the NIH Common Fund over a 10-year period in support of pediatric research.
Children's Hospital of Philadelphia