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

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.