202401 Sustaining the Gabriella Miller Kids First Data Resource

​Program seeks Council approval for the initiative entitled Sustaining the Gabriella Miller Kids First Data Resource.

In response to the 2014 Gabriella Miller Kids First Research Act, the Common Fund’s Gabriella Miller Kids First Pediatric Research Program has builta data resource to advance collaborative research and data sharing for childhood cancer and structural birth defects. These are leading causes of death in childhood, and although collectively far too common, individual conditions are mostly rare and collecting sufficient patient populations for genomic studies has been difficult.

The Kids First program has funded the generation of whole genome sequence data from cohorts of children and their families with pediatric cancer and/or structural birth defects to build one of the World’s largest collections of pediatric genomic data. Genomic, phenotypic, and clinical data from 22 birth defects and 11 pediatric cancers representing approximately 27,000 individual genomes is currently available with an approximately equal amount of data still within the data generation pipeline. This data has been harmonized along with relevant clinical and phenotypic data and made accessible to the research community through the Kids First Data Resource Portal. The availability of this large resource of genomic, phenotypic, and clinical data along with a researcher-friendly data platform and analysis tools enables a transformation of pediatric research - empowering basic mechanistic and gene regulatory studies as well as accelerating discoveries of biomarkers and targets for precision medicine.

Continued appropriations to support the Kids First program beyond fiscal year 2024 is uncertain. This concept clearance is for approval of institute funding to sustain the Gabriella Miller Kids First Data Resource, the data and the data resource portal, so that this large store of potential knowledge is not lost to the research community should funding lapse.

The proposed concept aligns with Theme One of the NICHD Strategic Plan “Understanding the Molecular, Cellular, and Structural Basis of Development” and with the DBCAB Scientific Priority “Identification, validation, and functional characterization of human genetic variants associated with structural birth defects using cutting edge technologies in model systems”.

Program Contact

James Coulombe
Developmental Biology and Congenital Anomalies Branch (DBCAB)

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