Professor Christopher Shaw MD, FRACP, FRCP (Hon), FMedSci, FANA, FK

Biography

I am a Professor of Neurology & Neurogenetics at the IoPPN and Director of The Maurice Wohl Clinical Neuroscience Institute. I am a Group Leader at UK DRI at King's and the former Director (2017-2022). My research group focuses on frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) with two main objectives:

1. To develop novel AAV-based gene therapy therapeutic approaches. Optimising AAV9 vectors for gene delivery into the CNS from preclinical experiments in cells and rodents up to first-in-human experimental medicine studies.
2. To map TDP-43 proteostasis in vitro using human iPSc-derived neurons: phenotypic analyses including transcriptomics, proteomics and high-content imaging in cultured motor neurons – including patient-derived iPSC and isogenic lines generated by genome editing with CRISPR/Cas9.

Please see my Research Staff Profile  for more detail.

Key Publications:

• Gkazi et al., 2019. Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia. Neurobiol Aging.
• Selvarajet al., 2018. C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity. Nat Commun.
• de Majo et al, 2018. ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function. Neurobiol Aging.
• Smith et al., 2017. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Science Translational Medicine.
• Lee et al, 2017. C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity. Hum Mol Genet.

View all publications

Key Collaborators:

• Professor Ammar Al-Chalabi, King's College London
• Dr Robert H Brown Jr, University of Massachusetts
• Professor John Landers, University of Massachusetts
• Professor Siddarthan Chandran, University of Edinburgh