Christopher E Shaw

Chris.shaw@kcl.ac.uk

Website

Research Interests

Christopher Shaw trained as a neurologist in New Zealand before moving to the UK on a Wellcome Trust Fellowship and joining King’s College London. He is the Director of the Maurice Wohl Clinical Neuroscience Institute and a UK Dementia Research Institute Investigator. His research team has discovered several genes linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), enabling gene testing for patients and at-risk family members. They have developed stem cell and transgenic mouse models that replicate key features of these human diseases, providing important mechanistic insights. Shaw and his colleagues co-founded AviadoBio, a biotechnology company dedicated to developing gene therapies for neurodegenerative disorders using adeno-associated viral gene vectors.

Most significant discovery

The discovery of pathogenic mutations in the TARDBP gene encoding TDP-43.
Cytoplasmic TDP-43 inclusions detected in ALS and FTD were dismissed as “cellular junk”
by leaders in the field. The mutations confirmed their pathogenicity and a mechanistic role in disease pathogenesis and enabled the generation of cellular and animal models.

Educational Interests

• Teaching Clinical Neurology examination skills
• Teaching mechanisms of neurodegeneration
• Facilitating opportunities for Early Career
Researchers
• Engaging clinicians in fundamental research

Top 4 Publications

• Sreedharan J, et al. Shaw CE. TDP-43 Mutations in Familial and Sporadic ALS. Science; 319:1668-72.
• Vance C, et al. Shaw CE. Mutations in FUS, an RNA processing protein, cause familial ALS type 6. Science. 2009;323:1208-11.
• Smith BN, et al., Shaw CE. Mutations in the vesicular trafficking protein annexin A11 are associated with ALS. Sci Transl Med. 2017;9, 388.
• Opie-Martin S, et al., Shaw CE. The phenotype of SOD1- mediated ALS is variant dependent and shows a decoupling between age of symptom onset and disease duration Nat Comm. 2022 (in press)

Methods / Expertise

• Genetic linkage and Association
• Human stem cell and transgenic mouse models of disease
• AAV vectorized gene therapies