Professor Cox is Emeritus Professor of Medicine at the University of Cambridge (Chair 1989-2015, Director of Research 2015-2020) and currently Senior Visiting Scientist in the  Department of Medicine. He conducts clinical and laboratory research in metabolic diseases and is an Honorary Consultant Physician at Cambridge University Hospitals (Addenbrooke's) Hospital.  He qualified in medicine in 1971 and has conducted scientific investigations principally on inborn errors of metabolism throughout a long clinical career in several specialist fields. His recent research has focused on lysosomal disorders - their molecular pathogenesis and treatment, including gene therapies directed to the brain. Professor Cox was the principal investigator in two pivotal clinical trials of a novel stratagem (substrate reduction therapy) leading to the approval of  the (first-in-class) agent, miglustat, for Gaucher disease and now Niemann-Pick disease type C. He also was a clinical pioneer of what proved to be a first-line oral agent, eliglustat, for Gaucher disease. The general approach is currently undergoing clinical investigation for cognate neurological disorders in which he is PI at Addenbrooke's hospital using brain-penetrant agents. Research in the Cox Lab is now translating this approach to the conquest of certain cancers and inflammatory disorders - already with promising results.

Prof Cox was the Founding Director of the Cambridge MB/PhD programme (1989-2014), the first in the UK now with nearly 200 graduates. The author of >300 original research articles, Prof Cox is one of three editors of the Oxford Textbook of Medicine (1993-) Sixth Edition in 4 voumes published by OUP in March 2020 and online. 

Selected Publications

Books:

Molecular Biology in Medicine 1997 (edited and authored with J Sinclair) Blackwell Science 340pp (translated into Spanish etc)

The Oxford Textbook of Medicine, 2020; Sixth edition, with J D Firth and C Conlon, Oxford University Press, in Four volumes, pp. 7782, ISBN9780198746690 - and online.

(Fourth and Fifth editions in three volumes: 2003 and 2010 authored and edited with DA Warrell  and JD Firth)

Representative research publications (30 of >300 publications including reviews)

See PubMed - Cox TM, https://pubmed.ncbi.nlm.nih.gov/

1. Mistry PK, Wraight EP, Cox TM. (1996). Therapeutic delivery of proteins to macrophages: implications for treatment of  Gaucher’s Disease. Lancet 348: 1555-1559. PMID: 8950883 

2. Moran MT, Schofield JP, Hayman R, Young E, Shi G-P, Cox TM (2000). Pathologic gene expression in Gaucher’s disease with upregulation of cysteine proteinases including osteoclastic cathepsin K.  Blood 56: 1969-1978.   PMID: 10961902

3. Boot RG, Verhoek M, de Cost M, Hollak CE, Maas M, Bleijtevens B, Van Breemen MJ, van Meurs M, Boven LA, Laman JD, Moran MT, Cox TM, Aerts JM. (2004). Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention.  Blood 103: 33-39. PMID: 12969956

4. Deegan PB, Moran, M-T, McFarlane I, Schofield JP, Boot RG, Aerts JMFG, Cox TM. (2005).   Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease.  Blood Cells, Molecules and Disease 35: 259-267.PMID: 16125420

5. 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. PMID: 10801168

6. Pavlova EV, Archer J, Wang S, Dekker N, Aerts JMFG, Karlsson S, Cox TM. (2015). Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B cell malignancy.  Journal of Pathology 235:113-124.  PMID: 25256118

7. Cox TM, Drelichman G, Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Ross L, Angell J, Puga AC. (2015). Efficacy and Safety of Eliglustat Compared with Imiglucerase in Gaucher Disease Type 1 Stabilised on Enzyme Therapy.  Lancet 385(9985):2355-2362.  PMID: 25819691

8. Cox TM, Drelichman G,  Cravo R, Balwani M, Burrow TA, Martins AM, Lukina E, Rosenbloom B, Goker-Alpan O, Watman N, El-Beshlawy A, Kishnani PS, Pedroso ML, Gaemers SJM, Tayag R, Peterschmitt MJ. (2017). Eliglustat Maintains Long-term Clinical Stability in Patients with Gaucher Disease Type 1 Stabilized on Enzyme Therapy.                  Blood 129:2375-2383. PMID: 28167660

9. D'Amore S, Page K, Donald A, Taiyari K, Tom B, Deegan P, Tan CY, Poole K, Jones SA, Mehta A, Hughes D, Sharma R, Lachmann RH, Chakrapani A, Geberhiwot T, Santra S, Banka S, Cox TM; MRC GAUCHERITE Consortium (2021). In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet J Rare Dis. 2021 Oct 14;16(1):431             PMID: 34649574

10. Cox TM, Charrow J, Lukina E, Mistry PK, Foster MC, Peterschmitt MJ. (2023). Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1. Genetics in Medicine. 2023 Feb;25(2):100329. PMID: 36469032

11. Schiffmann R, Cox TM, Dedieu JF, Gaemers SJM, Hennermann JB, Ida H, Mengel E, Minini P, Mistry P, Musholt PB, Scott D, Sharma J, Peterschmitt MJ. (2023). Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3 Brain;146:461-474. PMID: 36256599

12. D'Amore S, Sano H, Chappell DDG, Chiarugi D, Baker O, Page K, Ramaswami U, Johannesdottir F, Cox TM, Deegan P, Poole KE; MRC Gaucherite Consortium; MRC Gaucherite Consortium Collaborators (2023). Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease. Radiology. 2023 Apr;307(1):e212779. PMID: 36537898.

13. Zaccariotto E, Cachón-González MB, Lim S, Hirth B, Park H, Fezoui M, Wang B, Sardi SP, Mason P, Barker RH Jr, Cox TM. (2022). A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease. Biomedicine and Pharmacotherapy 2022 Mar 12;149:112808.   PMID: 35290889 

14.Cachón-González MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM. (2006). Effective gene therapy in an authentic model of Tay-Sachs related disease. Proceedings of the National Academy of Sciences (USA) 103:10373-10378. PMID: 16801539

15. Cachón-González MB, Wang SZ, McNair R, Bradley J, Lunn D, Ziegler R, Cheng SH, Cox TM (2012). Gene Transfer Corrects Acute GM2 Gangliosidosis - Potential Therapeutic Contribution of Perivascular Enzyme Flow. Molecular Therapy 20:1489-1500. PMID: 25256118

16. Bradbury AM, Cochran JN, McCurdy VJ, Johnson AK, Brunson BL, Gray-Edwards H, Leroy SG, Hwang M, Randle AN, Jackson LS, Morrison NE, Baek RC, Seyfried TN, Cheng SH, Cox NR, Baker HJ, Cachón-González MB, Cox TM, Sena-Esteves M, Martin DR. (2013). Therapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy. Molecular Therapy 21:1306-1315. PMID: 23689599

17. Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM (2019). The lysosomal disease caused by mutant VPS33A. Human Molecular Genetics 28:2514-2530.  PMID: 31070736

18. Lord DK, Cross NCP, Bevilacqua M, Rider SH, Gorman PA, Groves VA, Moss DW, Sheer D, Cox TM. (1990). Type 5 acid phosphatase: sequence, expression and chromosomal localization of a differentiation associated protein of the human macrophage.  European Journal of Biochemistry 189: 287-293. PMID: 2338077

19. Hayman AR, Cox TM. (1994). Purple acid phosphatase of the human macrophage and osteoclast. Characterization, molecular properties and crystallization of the recombinant di-iron oxo-protein secreted by baculovirus infected insect cells. Journal of Biological Chemistry 269: 1294-1300. PMID: 8288593

20. Hayman AR, Jones SJ., Boyde A, Foster D, Colledge WH, Carlton MB, Evans MJ, Cox TM. (1996). Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disrupted endochondral ossification and mild osteopetrosis. Development 122: 3151-3162. PMID: 8898228

21. Bune AJ, Hayman AR, Evans MJ, Cox TM. (2001). Mice lacking tartrate-resistant acid phosphatase (Acp 5) have an abnormal macrophage inflammatory response and reduced clearance of the pathogen, Staphylococcus aureus.  Immunology 102:103-113.  PMID: 11168643

22. Cox TM, O'Donnell MW, Camilleri M, Burghes AH. (1983). Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioimmunoassay in tissue biopsy specimens.Journal of Clinical Investigation 72: 201-213. PMID: 6348085

23. Cross NCP, Tolan DR, Cox TM. (1988). Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell 53: 881-885. PMID: 3383242

24. Cross NCP, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odièvre M, Vidailet M, Romano V, Mascali G, Romano C, Musemeci S, Steinmann B, Gitzelmann R,  Cox TM. (1990). Molecular analysis of aldolase B genes in Hereditary Fructose Intolerance. Lancet 335: 306-309. PMID: 1967768

25. Rellos P, Sygusch J, Cox TM. (2000). Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis. Journal of  Biological Chemistry. 275:1145-51. PMID: 10625657.

26. Cox TM, Peters TJ. (1978) Uptake of iron by duodenal biopsy specimens from patients with iron-deficiency anaemia and primary haemochromatosis. Lancet. 1(8056):123-4.  PMID: 87554.

27. Cox TM, Peters TJ. (1979) The kinetics of iron uptake in vitro by human duodenal mucosa: studies in normal subjects. Journal of Physiology;289:469-78. 

28. Cox TM, Mazurier J, Spik G, Montreuil J, Peters TJ. (1979) Iron binding proteins and influx of iron across the duodenal brush border. Evidence for specific lactotransferrin receptors in the human intestine. Biochimica Biophysica Acta. 588:120-8. PMID: 227471.

29. Griffiths WJ, Sly WS, Cox TM. (2001). Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis. Gastroenterology. 120:1420-9.  PMID: 11313312.

30. Kelly AL, Lunt PW, Rodrigues F, Berry PJ, Flynn DM, McKiernan PJ, Kelly DA, Mieli-Vergani G, Cox TM. (2001) Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. Journal of Medical Genetics.38:599-610.  PMID: 11546828.

Specialisms

Best described today as a Physician-Scientist who conducts scientific research in Cell Biology, Biochemistry and Genetics and has a strong commitment to education in medicine

Clinically an internist with specialism as a metabolic physician: 15 years personal laboratory bench experience. Research funded since 1977 by Medical Research Council, The Wellcome Trust, the National Institute of Health Research; currently supported by a Centre of Excellence award for investigator sponsored studies from Sanofi-Aventis (Genzyme) 2019-2025.