Dr Ruxandra Dafinca is a Translational Research Fellow in the Nuffield Department of Clinical Neurosciences. Here she discusses her project and benefits she has drawn from her experience so far as an Oxford-BMS Fellow.
What is your research background?
My background is in biochemistry and genomic engineering. After obtained my MSc in Neuroscience from the University of Oxford, I decided to continue with a DPhil in Oxford and I started focusing on molecular neurodegeneration. In my project, I generated a novel genomic construct with an ALS-associated mutation that was used to create a mouse model of disease. In parallel, I used induced pluripotent stem cells from skin fibroblasts of ALS patients to obtain spinal motor neurons in a dish and study the cellular pathways affected by disease. I am now based in NDCN, where I am working with Prof Kevin Talbot on stem cell models of ALS/FTD.
What are you researching now?
I am currently investigating intracellular and nucleocytoplasmic transport in human stem cell-derived motor neurons from ALS patients with genetic mutations in TDP-43 or C9ORF72. Fast transport and stringent gatekeeping at the nucleocytoplasmic pores are essential functions in the neurons and I am investigating how ALS mutations affect transport of molecules in and out of the nucleus, as well as the transport of mitochondria, endosomes and lysosomes throughout the cell. The goal is to identify a convergent pathomechanism feasible for therapeutic intervention and to test drugs that may rescue these functions.
What has your experience of this Fellowship been like?
The Fellowship has been a very positive experience. I have frequent opportunities to discuss my data with my BMS mentor, Dr Labow, who has always been available for queries and supportive of my approach. I also think it is a great chance to learn more about industry and establish collaborations.
What are your aspirations for the future of this research?
ALS is a devastating, fast progressing disease with no cure. I am hoping that my research will contribute to building a better understanding of the pathways affected in the neurons of patients and identify several potential therapeutic targets that we can test in collaboration with our industry partner.