Biography

My group investigates the roles of RNA binding proteins in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), with a focus on the three FET proteins (FUS, EWS, and TAF15). Mutations in FUS cause the most aggressive form of ALS whilst all three FET proteins are found in aggregates in FTD and we study how these contribute to disease using a combination of biochemical techniques and super-resolution microscopy in cell, zebrafish and mouse models. Away from research, I am the Senior Personal Tutor for all PhD students in the Faculty ensuring their well-being during their study. Further, I also participate in education across Neuroscience at King’s with a focus on leading modules on the MSc in Clinical Neuroscience and the BSc in Psychology and Neuroscience.

Please see my Research Staff Profile for more detail

Key publications:

• Vance et al., 2009. Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6. Science.
• Vance et al., 2013. ALS mutant FUS disrupts nuclear localisation and sequester wild-type FUS within cytoplasmic stress granules. Hum. Mol. Gen.
• So et al., 2018. Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice. Hum Mol Genet.
• Vance et al., 2006. Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2–21.3. Brain.
• Sreedharan et al., 2008. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis. Science.

View all publications 

Key collaborators:

• Dr Jacqueline Mitchell, King's College London
• Dr Marc-David Ruepp, King’s College London
• Professor Ludo van den Bosch, University of Leuven