Assoc ProfessorNiamh O'Sullivan

My research lab investigates the molecular mechanisms underlying neurodegeneration in human disorders. In particular, I am interested in the role of endoplasmic reticulum (ER)-shaping proteins in motor neuron axons and how loss of these proteins may give rise to neurodegeneration.

Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disorder in which the long axonal tracts in the cortical spinal tract degenerate. Pathogenic mutations in ER-shaping proteins are the leading cause of HSP, pointing to a crucial role for these proteins, and the smooth ER which they shape, in axonal maintenance. However, the mechanism(s) by which disruption of smooth ER in long motor neurons gives rise to neurodegeneration in HSP has not been extensively studied axons in vivo.

My lab uses Drosophila melanogaster , the fruit fly, to model neurodegenerative diseases such as HSP. Disease models in simple organisms, like Drosophila , harness the power of genetics to define cellular pathways underlying the specific degradation of post-mitotic neurons in these disorders.