Biography
Niamh is a postdoctoral research fellow who joined the Ruepp lab in 2020. She studied Human Genetics at Trinity College Dublin and obtained her PhD from University College London in 2015, where she was studying the link between genetic mutations in AMPA receptor regulators and psychiatric illnesses. Her research interests lie in understanding how different genetic mutations can lead to neurodegenerative conditions such as ALS and FTD.
Research interest
Niamh's research has focused on developing innovative cellular models of CNS disorders, including 3D organoid modelling of Down Syndrome-linked Alzheimer's Disease and on developing a large isogenic iPSC cell bank, in which different cell lines harbour genetic mutations linked to ALS/FTD. The cell models are being utilised to investigate perturbed disease-related pathways.
In her current research project, she is using this cell bank to develop a novel gene therapy approach to determine whether there are potential ways to modulate the splicing of disease-related mRNAs to mitigate mRNA dysregulation associated with ALS/FTD.