GEOGRAPHY OF A RARE DISEASE: A SHIFTING LANDSCAPE TOWARDS DIFFUSE MIDLINE GLIOMA (DMG)

Abstract

This thesis aims to describe the clinical and translational landscape of DIPG, and the research challenges addressed in my PhD project. I aim to 1) describe the development and establishment of a centralized data collection in the SIOPE and International DIPG/ DMG Registries, providing a research infrastructure mechanism capable of “assessing the landscape” of this rare disease. 2) The challenges arising with the diagnostic evolution of DIPG to DMG, a transition from a clinicoradiographic (phenotype) based diagnosis to a molecular based (genotype) classification and the clinical implications of implementation by specialty and in terms of access to advanced diagnostics along socioeconomic lines. 3) And finally, using the SIOPE DIPG Registry as a high-level epidemiological tool to “survey the land”, studies on clinical, radiologic, pathologic, and molecular characteristics, and exceptional (long-term) and treatment-related survival patterns.