Osteosarcoma study on KFDRC (84 participants)

phs001714 — Gabriella Miller Kids First Pediatric Research Program: An Integrated    Clinical and Genomic Analysis of Treatment Failure in Pediatric    Osteosarcoma

The <a href="https://commonfund.nih.gov/KidsFirst">Gabriella Miller Kids First Pediatric Research Program</a> (Kids First) is a trans-NIH effort initiated in response to the <a href="https://www.congress.gov/bill/113th-congress/house-bill/2019/text?q=%7b%22search%22%3A%5b%22\%22hr2019\%22%22%5d%7d&#x26;resultIndex=2"> 2014 Gabriella Miller Kids First Research Act</a> and supported by the NIH Common Fund. This program focuses on gene discovery in childhood 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. All of the WGS and phenotypic data from this study are accessible through dbGaP and <a href="https://kidsfirstdrc.org/">kidsfirstdrc.org</a>, where other Kids First datasets can also be accessed. Although the survival of children with relapsed osteosarcoma is very poor, little is known about the etiology of treatment failure in this disease. The purpose of this project is to perform whole genome sequencing on serial samples from patients with osteosarcoma obtained before treatment, after treatment, and at relapse/metastasis in order to identify the mutations and pathways that are drivers of drug resistance. If successful, our results may help identify patients at high risk for treatment failure and may yield new treatments for children who cannot currently be cured.

Gabriella Miller Kids First Pediatric Research Program: An Integrated    Clinical and Genomic Analysis of Treatment Failure in Pediatric    Osteosarcoma