Associate Professor Richard Hugh Roxburgh
BSc (Maths) MB ChB (Otago) PhD (Cambridge)
After training at Otakou Medical School, Richard specialised in Neurology doing his advanced training in Manchester, Cambridge and Queens' Square, London. He subspecialised in Neurogenetics and completed his PhD in the Neurogenetics of multiple sclerosis in 2003, during which time he developed the Multiple Sclerosis Severity Score which is now the standard method for assessing disease severity in Multiple Sclerosis.
Returning to New Zealnd in 2003 he established New Zealand's only Neurogenetic clinic at Auckland City Hospital where he sees patients with a wide number neurological conditions from muscular dystrophy to ataxias, hereditary spastic paraparesis to Huntington's disease.
He has established the New Zealand Neuromuscular Disease Registry and the New Zealand Motor Neurone Disease Registry for the express purpose of lowering the barriers for New Zealanders to get access to research and clinical trials.
He is the New Zealand PI for the Enroll-HD study, an international longitudinal study of over 20 000 people whose families have Huntington's Disease and for the upcoming treatment trial Generation-HD which will be trialling an intrathecal antisense oligonucleotide aimed at reducing levels of brain huntingtin protein.
Selected publications and creative works (Research Outputs)
- Pelosi, L., Iodice, R., Antenora, A., Kilfoyle, D., Mulroy, E., Rodrigues, M., ... Manganelli, F. (2019). Spinocerebellar ataxia type 2-neuronopathy or neuropathy?. Muscle & nerve, 60 (3), 271-278. 10.1002/mus.26613
- Wood, L., Bassez, G., Bleyenheuft, C., Campbell, C., Cossette, L., Jimenez-Moreno, A. C., ... Dogan, C. (2019). Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet Journal of Rare Diseases, 14 (1)10.1186/s13023-019-1157-7
- Theadom, A., Roxburgh, R., MacAulay, E., O'Grady G, Burns, J., Parmar, P., ... Impact CMT Research Group (2019). Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study. BMJ open, 9 (6)10.1136/bmjopen-2019-029240
- Walker, K. L., Rodrigues, M. J., Watson, B., Reilly, C., Scotter, E. L., Brunton, H., ... Roxburgh, R. H. (2019). Establishment and 12-month progress of the New Zealand Motor Neurone Disease Registry. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 60, 7-11. 10.1016/j.jocn.2018.11.034
Other University of Auckland co-authors: Emma Scotter
- Theadom, A., Rodrigues, M., Poke, G., O'Grady G, Love, D., Hammond-Tooke, G., ... Jones, K. (2019). A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders. Neuroepidemiology, 52 (3-4), 128-135. 10.1159/000494115
Other University of Auckland co-authors: Greg O'Grady, Braden Te Ao, Don Love
- Wood, L., Bassez, G., Bleyenheuft, C., Campbell, C., Cossette, L., Jimenez-Moreno, A. C., ... Dogan, C. (2018). Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet journal of rare diseases, 13 (1)10.1186/s13023-018-0889-0
- Coutelier, M., Hammer, M. B., Stevanin, G., Monin, M.-L., Davoine, C.-S., Mochel, F., ... Gibbs, J. R. (2018). Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. JAMA neurology, 75 (5), 591-599. 10.1001/jamaneurol.2017.5121
- Mulroy, E., Pelosi, L., Leadbetter, R., Joshi, P., Rodrigues, M., Mossman, S., ... Roxburgh, R. (2018). Peripheral nerve ultrasound in Friedreich ataxia. Muscle & nerve, 57 (5), 852-856. 10.1002/mus.26012