Leveraging rare-disease modelling to identify fundamental biological mechanisms that contribute to human disease
Supervisor: Professor Yanick Crow
The study of the genetic causes of rare disease in humans is manifestly relevant to human physiology, and depending on the tissues affected, may also be relevant to more common conditions. This project will explore a putative novel mechanism identified from unpublished RNAseq datasets of a zebrafish model of Leukoencephalopathy with Calcifications and Cysts (Nat Genet 2016;48:1185-92, Am J Hum Genet 2020:106:694-706), a condition characterised by dysfunction of the neurovascular unit. Multidisciplinary biochemical, advanced microscopy, and cell biology approaches will be applied to the project, with potential for computational biology analyses for appropriately qualified (those with coding experience) applicants.