I have an international reputation in translational disease research for the neuronal ceroid lipofuscinoses (NCL), a family of inherited paediatric neurodegenerative lysosomal storage diseases also known as Batten disease. I have worked to delineate their genetics and biology to open new avenues for therapeutic development as well as understanding more common neurodegenerative conditions and the basic biology of cells.

My collection of samples enabled the identification of most known NCL genes between 1995 to 2013 including identifying the first elusive adult onset gene. I predicted early on that the phenotypes of disease arising from CLN genes would be much broader than classic NCL diseases. Towards this I established the web site NCL Resource which contains the NCL gene mutation database, and lead internationally on interpretation and understanding the increasingly broad genotype-phenotype correlations of NCL genes. I contribute to guide recommendation of good practice for diagnosis, assessment, treatment and management. 

I have a particular interest in the biology of CLN3, a highly conserved gene, and of CLN6 and CLN7. I pioneered the use of the model organism fission yeast Schizosaccharomyces pombe for lysosomal disease research. For CLN3/Btn1 we showed an effect beyond the lysosome and its centrality to the activation of core signalling pathways in response to stress. We are developing novel biosensors to measure ions in yeast intracellular compartments. We are identifying the functional complexity of transcripts arising from the common intragenic deletion of CLN3. A protein equivalent to one transcript has lost, retained and gained new functions. High throughput screening identified small molecules that restore defects associated with full or partial loss of yeast disease genes and in cells from patients. The efficacy of our most promising compound is being compared with one already in the clinic for other lysosomal diseases.