# Innovation through collaboration at the intersection of childhood development and cancer: a platform for the Gabriella Miller Kids First Pediatric Data Resource Center

> **NIH NIH U2C** · CHILDREN'S HOSP OF PHILADELPHIA · 2021 · $1,171,824

## Abstract

Data Portal Summary & Abstract
While there is already a healthy web-based research ecosystem for cancer genomics data including the OICR
team's own ICGC portal, cBioPortal, the UCSC Cancer Genome Browser, and MyCancerGenome there is no
comprehensive portal for pediatric cancers, which are distinct in etiology and genomic profile from adult
cancers. More seriously, there are scant web-or application-based tools to assist researchers investigating the
causes and consequences of structural birth defects (or germline diseases in general), and no online
resources whatsoever that combine the phenotypic and genotypic information for these two classes of pediatric
disease. This is despite abundant evidence that structural birth defects and pediatric cancers share common
etiologies and biological pathways: both involve genomic variations in genes involved in development and
homeostasis, both are driven upward in risk by rare germline variants, and many structural birth defect
syndromes, including such relatively common syndromes as Down, Klinefelter, Wiskott-Aldrich, Noonan, and
Perlman, are associated with elevated cancer risk. This project will bring together the pediatric cancer and
structural birth defect research communities, providing a unique opportunity to leverage the information
gathered by one community to acquire insights in the other, and to recognize and promote collaborations
among the two disciplines. As the project's chief outward-facing tool, the data resource portal will serve the
needs of four groups of users: (1) biomedical researchers, who require deep access to the Kids First data sets
and the ability to perform broad integrative queries and analytics across multiple data sets; (2) clinicians, who
require concise summaries of the state of knowledge of pediatric cancers and congenital birth defects; (3) data
scientists, who will build analytic pipelines, knowledge bases and other tools and services on top of the portal;
and (4) patients and their family members, who will look to Kids First as a community resource for learning
about their disease, and for finding support groups and other disease-related resources. The portal will bring
together this heterogeneous user base to participate in a fertile ecosystem for research, study and
collaboration built on top of an unprecedented collection of genetic and phenotypic data from pediatric patients.
This will catalyze the advancement of personalized medicine for the detection, therapy and management of
childhood cancer and birth defects.

## Key facts

- **NIH application ID:** 10213817
- **Project number:** 5U2CHL138346-05
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Adam Cain Resnick
- **Activity code:** U2C (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $1,171,824
- **Award type:** 5
- **Project period:** 2017-06-25 → 2022-09-14

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10213817

## Citation

> US National Institutes of Health, RePORTER application 10213817, Innovation through collaboration at the intersection of childhood development and cancer: a platform for the Gabriella Miller Kids First Pediatric Data Resource Center (5U2CHL138346-05). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10213817. Licensed CC0.

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