Current Research
The O'Sullivan Lab- University College - Dublin
"UNCOVERING THE PATHOGENIC MECHANISMS UNDERPINNING WARBURG MICRO SYNDROME"
4 YEAR GRANT
4 YEAR GRANT
The O’Sullivan Lab at University College – Dublin is the recipient of a four year grant from The Irish Research Council for a groundbreaking research project focusing on Warburg Micro Syndrome. This project, led by researcher Ailbhe Conway, will be in partnership with the Warburg Micro Research Foundation and began in September 2023.
The new research project is investigating the loss of Rab18 in fruit flies and zebrafish to determine the effects of Warburg Micro in neurons and whether certain drugs can rescue neurodegeneration, providing valuable insights into the mechanisms behind the disorder. The research aims to deepen our understanding of the condition and ultimately pave the way towards discovering effective treatments.
Understanding the Genetics of Rare Disease
Plain English Summaries
The following research summaries are written by Ailbhe Conway who is conducting her PhD project under the supervision of Associate Professor Niamh O’Sullivan at University College Dublin and is supported by a scholarship from the Irish Research Council . Ailbhe is working to investigate why neurons stop working when RAB18 is lost. In addition to her work in the lab, Ailbhe has set out to create a resource for families affected by RAB18 deficiency disorders, by publishing ‘plain English’ summaries of key WMS research papers.
12/2023 : “Rab18 and a Rab18 GEF complex are required for normal ER structure” Gerondopoulos et el., 2014 (Full paper)
07/2024: “Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome” Handley et al., 2013 (Full paper)