Lysosomes are a subset of organelles that are crucial for cellular function, as epitomised by the >50 human diseases that are caused by mutations in the genes encoding lysosomal and associated proteins. These so called “lysosomal storage diseases” are the most common form of childhood neurodegeneration (estimated prevalence of 1:5,000 live births), are an area of unmet clinical need and often present with hallmarks of diseases of ageing such as Parkinson or Alzheimer disease, all of which are areas fo interest for our research group.
Our laboratory is interested in the function of novel uncharacterised lysosomal transmembrane proteins, their roles in normal cellular function and the events that unfold when these proteins become dysfunctional in lysosomal diseases and diseases of ageing. We are particularly interested in applying our research on lysosomal proteins to other human diseases, particularly neurodegenerative and infectious diseases. Lysosomal research is an emerging area owing to the development of new tools capable of measuring lysosomal function at the acidic pH found within these compartments. Our lab utilises these tools to investigate the function of this enigmatic class of organelles.
Our laboratory is part of the Neuroscience division at the School of Biosciences, Cardiff University, ranked second in the UK for neuroscience in the recent REF. We are also affiliated to the Cardiff University Neuroscience and Mental Health Research Institute and the Cardiff University spoke of the UK Dementia Research Institute.