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Study Description

The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). Both childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions.

Clinical and genetic sequence data obtained through Kids First funding is available through dbGaP and will be accessible through the Kids First Data Resource. The Kids First Data Resource, being developed during fiscal year 2017, will catalog and curate genomic and phenotypic data from a wide range of childhood cancers and structural birth defects conditions and serve as a central portal where data and analysis tools will be readily accessible to promote comprehensive and crosscutting research and collaboration.

Multi-center, prospective observational cohort study of individuals with congenital heart defects (CHD). Phenotypic data and source DNA derived from 300 probands and their parents, and family of interest collected to investigate relationships between genetic factors and phenotypic and clinical outcomes in patients with CHD.

  • Study Weblinks: PCGC; Kids First
  • Study Types: Parent-Offspring Trios, Cohort
  • Number of study subjects that have individual level data available through Authorized Access: 890

Authorized Access
Publicly Available Data (Public ftp)

Note: Access to publicly available data is available on the public ftp site for study phs001194.v1.p2.

Study Inclusion/Exclusion Criteria

Inclusion criteria:

  • Age 0 - 99 years of age
  • Males and females
  • No ethnic or race restrictions
  • Sporadic and familial cases are included
  • Pregnant women who have a fetus with diagnosed CHD

Exclusion criteria:

  • Isolated patent foramen ovale
  • Isolated prematurity-associated patent ductus arteriosus
  • Lack of consent
Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Sequencing Illumina HiSeq X Ten N/A N/A
Selected publications
Diseases/Traits Related to Study (MESH terms)
Authorized Data Access Requests
Study Attribution