Specialist interests include:

• Genetic modifiers of lysosomal biology in health and disease
• Fabry Disease
• Mechanisms involved in GSL biosynthesis in the ER and Golgi, including the role and importance of FAPP2 transport protein.
• GM3 Synthase deficiency (a novel form of hereditary childhood epilepsy)
• GM2 Synthase deficiency (a hereditary spastic paraplegia)
• GM2 Gangliosidoses (Sandhoff disease, Tay-Sachs disease)
• Neuraminidase 1, 3 and 4 deficiencies in knockout mice
• Evaluation of new therapies and biomarker discovery
• Lysosomal dysfunction in Motor Neurone Disease and Parkinson’s disease
• Role of α-Gal residues in acute rejection in xenotransplant surgery
• Mouse models of disorders of glycosphingolipid metabolism