Caroline Vance

Caroline.vance@kcl.ac.uk

DrCarolineVance

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Research Interests

My research focuses on understanding the causes of neurodegeneration in order to develop treatments. Having initially focused on identifying disease-causing mutations, my research has progressed from genetics to investigating how these changes contribute to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Using animal models (zebrafish and mouse), primary and cancer cell lines, we study how both wildtype and mutant RNA-binding proteins function in neurons with a spotlight on the synapse and neuromuscular junction. Our current focus is on the FET family (FUS, EWSR1, and TAF15) of RNA-binding proteins, which have been shown to have distinct roles in neurons. By identifying these specific functions, we can explore the dysfunction linked to disease and identify therapeutic targets.

Most significant discovery

My discovery of mutations in the RNA-binding protein FUS as a cause of ALS in 2009 (Vance et al., 2009, Science,) together with the discovery of TDP43 mutations (Sreedharan et al., 2008, Science) to which I also contributed, led to a whole new field investigating the role of RNA binding proteins in the pathogenesis of neurodegeneration .

Educational Interests

• My teaching focuses on molecular and cellular neuroscience by co-organising modules on both undergraduate and postgraduate taught programmes.
• I chair the sub-committee for Neuroscience overseeing the progress of PhD students and have a specific focus on ensuring a good inclusive experience for all.

Top 4 Publications

•Salam et al., Sci Rep. 2021 11(1):13613 https://doi.org/10.1038/ s41598-021-93189-6
•So et al., Hum Mol Genet. 2018 1;27(3):463-474. https://doi.org/10.1093/ hmg/ddx415
•Vance et al., Hum. Mol. Gen. 2013; 22 (13): 2676-88 https://doi.org/10.1093/ hmg/ddt117
•Vance et al., Science 2009; 323:1208-11 https://doi.org/10.1126/ science.1165942

Methods / Expertise

• In vivo modelling
• In vitro modelling
• Super resolution microscopy