Birth defects and cancers are among the leading causes of death in children and represent a wide range of pediatric conditions with complex genetic etiologies of which little is known. Advances in genomics have empowered the efforts of scientists studying the genetic networks underlying development to be combined with those sequencing patient cohorts - promising advances in understanding the etiologies of birth defects. Similarly, genomic studies of childhood cancer promise discovery of new biomarkers and targeted therapies based on understanding the underlying genetic mechanisms and classification of conditions –the promise of precision medicine.
In response to The Gabriella Miller Kids First Act, the NIH Common Fund established the Gabriella Miller Kids First Pediatric Research Program (Kids First) this program is led by NICHD, NCI, NHLBI, and NHGRI along with a Working Group of representatives from 12 NIH Institutes, the Office of the Director, and the Centers for Disease Control and Prevention.
The Kids First Program has developed a Data Resource Center, data resources in the cloud, sequencing centers, and supports whole genome, transcriptomic and other data generation from cohorts of birth defect and pediatric cancer patients and their families. The Kids First Data Resource Center aggregates genome sequence, expression, phenotypic, and clinical data that will be of high value for investigators who study structural birth defects and/or pediatric cancer. Data from more than 21,000 DNA and RNA samples from children affected with cancer or structural birth defects are available for analysis. More than 30,000 additional whole-genome sequences are expected to be added over the next few years, making the Kids First data resource one of the largest collections of pediatric data.
The concept for your approval is focused on supporting the analysis of the data sets made available by Kids First. Resources of the Kids First Program have been limited in scope and focused on data production and development of the data resource. The intent is to promote meritorious research projects that involve secondary analyses of datasets assembled and disseminated by the Kids First program.
These data and other resources have been developed, in the cloud, to promote data sharing, data analysis, and data visualization to enable a deeper exploration of the origins of birth defects and childhood cancers, and ultimately an understanding of the etiology of these conditions, thus empowering the development of better prevention, diagnostics, and treatments for these pediatric conditions.
Developmental Biology and Structural Variation Branch (DBSVB)
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