Prof Hughes is Prof of experimental haematology at the University College London, clinical director of research and innovation at the Royal Free London, and co-clinical director of the North Central London cancer alliance.

She is also chair of the International Working Group for Gaucher disease. She has clinical responsibilities in the area of haematology and lysosomal storage disorders and is chair of the anaemia clinical practice group.

She directs the research programme in the LSD unit where interests include understanding the pathophysiology of phenotypic heterogeneity in Fabry disease and bone-related pathology in Gaucher disease and malignancy.

Prof Hughes is principal investigator of a number of clinical trials examining the efficacy of enzyme, chaperone and gene therapies and other new agents in the treatment of Gaucher, Fabry, Pompe and MPS disorders.

A particular interest relates to the clinical and biological effects of bone disease and malignancy in Gaucher disease. She is an author of over 150 papers in the area of macrophage biology and lysosomal storage disorders.