Kids First: Pediatric Research Project on the Genomic Analysis of Congenital Diaphragmatic Hernia

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. WGS and phenotypic data from this study are accessible through dbGaP and kidsfirstdrc.org, where other Kids First datasets can also be accessed. In collaboration with the University of Utah, DNA from four families were selected for high-depth WGS (60X) including diaphragm and skin tissue to identify mosaicism. In collaboration with the Broad Institute, DNA from four families underwent linked long read sequencing using 10X Genomics technology. Probands with congenital diaphragmatic hernia/defects and both biological parents enrolled as part of the DHREAMS study.]]>
Probands with congenital diaphragmatic hernia/defects and both biological parents enrolled as part of the DHREAMS study.]]>
All participants were enrolled through the DHREAMS study. University of Utah collaboration: Participants were selected from individuals with isolated CDH and a herniated connective tissue sac removed during diaphragm repair surgery. Skin biopsies and blood were also saved from these individuals, allowing for comparison of sequencing data of the three tissues to discover variants unique to one of the three tissues. Parental blood samples were also collected and sequenced to allow for germline de novo and inherited variant detection. 10X Genomic Pilot: As part of a synthetic long read sequencing pilot, four families were selected for 10X Genomics linked long read sequencing.]]>