Federal Grant Award Summary

The Children's Hospital of Philadelphia Research Institute received a $356,000 Project Grant from the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865), awarded on May 15, 2026, with a completion date of April 30, 2028. This project delivers analytical and research products focused on understanding disease trajectories associated with rare genomic variants in childhood epilepsies and lesional brain disorders. The primary deliverables include longitudinal disease trajectory analyses encompassing 13,983 patient years of clinical data integrated with genomic sequencing information from the Gabriella Miller Kids First Pediatric Research Program, utilizing electronic medical records (EMR) data and the Fast Healthcare Interoperability Resources (FHIR) data model to establish comprehensive disease histories organized through the Human Phenotype Ontology (HPO).

The research initiative generates clinical and phenotypic association products that characterize treatment landscapes, clinical outcomes, and disease progression patterns linked to identified rare genomic variants. The project assesses both longitudinal clinical trajectories—including diagnosis codes, procedures, and medication patterns recorded at monthly intervals—and the combined predictive value of clinical and genomic data for anticipating disease-relevant outcomes in pediatric epilepsy populations. These data-driven analyses and resulting phenotype-genotype association products are designed to inform precision medicine approaches and advance understanding of how genetic variation influences clinical disease trajectories in childhood neurological disorders.