Innovation Through Collaboration: New Models Emerging in Pediatrics for an Integrated Data-driven Healthcare Ecosystem
Pediatric cancers are the leading cause of disease-related death in children, but are defined as a rare disease when contrasted to adult tumors. Because of this classification, pediatric cancer discovery efforts are challenging due to a more limited basic and translational data-driven research infrastructure. As such, harnessing the potential for accelerated discovery through large-scale molecular/genomic data-generation and analysis platforms requires new approaches and tools for collaborative discovery on behalf of the rare disease patient-community. The Children’s Hospital of Philadelphia and its partnered consortia-based institutions have piloted a series of data-focused initiatives which span biospecimen-driven pediatric cancer research, clinical trials, data storage, analysis, and visualization platform-development. Covered in the presentation will be our experiences over the past five years in these efforts and the partnered development of CAVATICA, a data analysis platform designed to both facilitate the rapid integration and analysis of genomic data from multiple diseases affecting children and enable transdisciplinary discovery via interoperability with the Genomic Data Commons and other NIH data repositories.
Adam Resnick, Ph.D., is the Director of Data Driven Discovery in Biomedicine (D3b) at Children’s Hospital of Philadelphia (CHOP). His research is focused on defining the cell signaling mechanisms of oncogenesis and tumor progression in brain tumors. Resnick’s research lab studies cell signaling cascades and their alterations in pediatric brain tumors to elucidate the molecular and genetic underpinnings of each tumor in an effort to identify and develop targeted therapies. Dr. Resnick serves as Scientific Chair for several consortia-based efforts, including the Children’s Brain Tumor Tissue Consortium (CBTTC) and Pacific Pediatric Neuro-Oncology Consortium (PNOC), which include more than 20 pediatric hospitals across the globe. As director of D3b, Dr. Resnick leads a multidisciplinary team to build and support a scalable, patient-focused healthcare and educational discovery ecosystem on behalf of all children.
- Machine Learning in Genomics: Tools, Resources, Clinical Applications, and Ethics WorkshopApril 13, 2021 - April 14, 2021Using the Genomic Data Commons APIApril 26, 2021