Diskin Lab

Children's Hosp of Philadelphia

Philadelphia · United States

NIH-funded
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NIH R01 · 2024

Elucidating the role of the noncoding genome in neuroblastoma

Project Summary Neuroblastoma (NB) remains one of the deadliest childhood cancers. NB exhibits a paucity of recurrent protein coding mutations and few targetable mutations (2-5), providing the rationale for this proposal. Noncoding variants can disrupt regulatory and/or structural DNA leading to dysregulated transcriptional programs that promote tumorigenesis. Our objective here is to identify noncoding variants and mechanisms that drive NB. Our central hypothesis is that germline variants and somatic mutations within noncoding regulatory regions of DNA potently influence NB initiation, progression and/or disease relapse. We will test our hypothesis in three specific aims: 1) Define and…

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