Associate Professor Richard Hugh Roxburgh

BSc (Maths) MB ChB (Otago) PhD (Cambridge)

Associate Professor

In: Medicine » School of Medicine » Faculty of Medical and Health Sciences

Biography

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)

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, Miriam Rodrigues
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: Miriam Rodrigues, 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
Other University of Auckland co-authors: Miriam Rodrigues
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
Other University of Auckland co-authors: Miriam Rodrigues
Pelosi, L., Mulroy, E., Leadbetter, R., Kilfoyle, D., Chancellor, A. M., Mossman, S., ... Roxburgh, R. H. (2018). Peripheral nerves are pathologically small in cerebellar ataxia neuropathy vestibular areflexia syndrome: a controlled ultrasound study. European journal of neurology, 25 (4), 659-665. 10.1111/ene.13563
Jones, K. M., O'Grady G, Rodrigues, M. J., Ranta, A., Roxburgh, R. H., Love, D. R., ... MD-PREV study group (2018). Impacts for Children Living with Genetic Muscle Disorders and their Parents - Findings from a Population-Based Study. Journal of neuromuscular diseases, 5 (3), 341-352. 10.3233/jnd-170287
Other University of Auckland co-authors: Don Love, Miriam Rodrigues
Pelosi, L., Mulroy, E., Rodrigues, M. J., & Roxburgh, R. H. (2017). Neuronopathy and neuropathy in autosomal dominant spino-cerebellar ataxia (SCA): A preliminary peripheral nerve ultrasound study. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 128 (12), 2436-2437. 10.1016/j.clinph.2017.09.114
Other University of Auckland co-authors: Miriam Rodrigues