Bradley Smith

bradley.smith@kcl.ac.uk

Website

Research Interests

My research dwells on the identification of novel ALS genes in predominantly familial European and Middle Eastern ALS patients, and their corresponding functional characterisation. A strong current focus of investigation is Annexin A11, a calcium-binding phospholipid gene that carries replicated ALS-associated mutations in the N-terminus. We have developed zebrafish and mouse models to tease apart Annexin A11-mediated ALS disease mechanisms. My research is complemented by strong collaborative working ties with the King’s London Neurodegenerative Diseases Brain Bank to assess postmortem tissue from ALS patients harboring mutations in rare ALS genes to inform their functional role in disease.

Most significant discovery

The most significant discovery of my career to date is the identification of the Annexin
A11 gene that causes ALS. Since 2017, the biological role has been widened to include a
role in lysosomal biology, RNA granule trafficking and autophagy. Annexin A11 now
potentially forms a node in ALS that bridges multiple functional pathways.

Educational Interests

I am junior Lecturer in terms of teaching and education.
However, I have a growing interest in the practical transition
of academic theory to laboratory practice and how creative
process learning (ie. practice led research) can accelerate/
heighten academic understanding and reasoning.

Top 4 Publications

1. Bradley N Smith, Simon D Topp … Chris Shaw. Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis. Sci Transl Med. 2017 May 3;9(388).
2. Johnson, J ….Bradley N Smith and Bryan J Traynor. Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis. Oct 2021, JAMA Neurology. 78, 10, p. 1236-1248.
3. Smith BN .. Landers JE. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron. 2014 Oct 22;84(2):324-31.
4. Gotkine M … Smith BN. A recessive S174X mutation in Optineurin …Neuro Biol Aging. 2021. Oct;106:351.e1-351.e6.

Methods / Expertise

• Gene Hunting
• Modelling in Zebrafish
• Cell Biology/Neuropath