Timothy Cox – UCAM – University of Cambridge, Cambridge, UK

timothycoxInstitute description
The Department of Medicine, University of Cambridge, Addenbrooke’s Hospital, Cambridge, has performed pioneering work on substrate reduction therapy (SRT), not only at the European level but in the world. This expertise is therefore crucial to continue developing and testing SRT (as described in WP4) and also, together with the expertise of Partner 2, to allow testing novel approaches such as that of a combined SRT and gene therapy approach.

Group leader
Timothy Cox is Full Professor and currently Head of the Department of Medicine at the University of Cambridge. He is a Founding Fellow of the Academy of Medical Sciences of the UK.

His research interests include biochemical and genetic aspects of inborn errors of metabolism, principally those that affect adults; he has extensive clinical experience of these disorders with particular reference to lysosomal storage diseases (Gaucher disease).

Prof. Cox was an early pioneer of enzyme replacement therapy in Gaucher disease and published studies on the macrophage-targeted delivery and pharmacodynamics of mannosylated lysosomal proteins in humans. Early studies on the genetics of Gaucher disease led also to novel studies of a Gaucher gene library from which a macrophage-expressed gene was identified and in collaboration was shown to serve as an informative surrogate biomarker of Gaucher disease activity. Professor Cox was the first to carry out a clinical trial of substrate reduction therapy with the iminosugar N butyldeoxynojirimycin in Gaucher disease demonstrating its efficacy.

Role in the project
Workpackage Leader for WP4, which is aimed at testing substrate reduction in a mouse model with GD and in patients with GD. His laboratory will also actively participate to WP2, in determining the natural history of patients with Gaucher disease.

Key personnel

Name Title Gender Role
Timothy Cox Group leader M WPL for WP4
Begona Cachon- Gonzalez Senior Research Associate ??? ???
Patrick Deegan Metabolic Physician M ???
Penelope E Stein Clinical Research Fellow; Metabolic Physician F Clinical biochemist, crystallographer
Elena Pavlova Research Fellow F ???
Jonathan Roos PhD Student M ???
Susan Wang Senior Technician F ???
Elizabeth Morris Senior Specialist Nurse F LSDs
Jane Tindall Specialist Nurse F ???

Key publications

Cachon-Gonzalez MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM (2006). Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci USA 103: 10373-10378.

Cox TM (2005). Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr Suppl 94: 69-75; discussion 57.

Cox TM (2005). Biomarkers in lysosomal storage diseases: a review. Acta Paediatr Suppl 94: 39-42; discussion 37-38.

Cox, TM (2003). Miglustat. Drugs 63: 2435-2436.

Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, Platt F, Butters T, Dwek R, Moyses C, Gow I, Elstein D, Zimran A (2000). Novel oral treatment of Gaucher’s disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355: 1481-1485.