Research shaping
the future of


Specialist clinics
quality of life


Demyelinating Diseases Research

Demyelinating Diseases Research, led by Clinical Professor Allan Kermode, is dedicated to investigating the causes of multiple sclerosis (MS) and improving the treatment and management of those suffering from MS and related diseases.

Research Focus

The research team is involved in a number of research projects to investigate the clinical profile of different subgroups of patients with demyelinating disease in Western Australia, including relapsing-remitting and primary progressive MS, optico-spinal forms (OSMS), neuromyelitis optica (NMO) and transverse myelitis, and the influence of HLA alleles and haplotypes on disease susceptibility and clinical and laboratory characteristics.

The team is working in collaboration with Professor F Christiansen and the Department of Clinical Immunology at the Royal Perth Hospital. New serological techniques for detecting antibodies to aquaporin-4 have been developed in collaboration with Professor P Hollingsworth and the Department of Clinical Immunology at the QEII Medical Centre and are being evaluated in the large cohort of patients in the Perth Demyelinating Diseases Database (PDDD) to determine what role this antibody has in the pathogenesis of these diseases. Collaboration with Professor S Mallal at the Institute for Immunology and Infectious Diseases at Murdoch University aims to investigate genetic epistasis and the interaction of viral infections in MS.

In addition, the Group has established important collaborations with centres at Capital University of Medical Sciences, Beijing (Professor XJ Zhang) and Shanghai Jiao Tong University (Professor Q Cheng) in China and Kyushu University in Japan (Professor J-I Kira) to carry out comparative studies in Asian and West Australian cohorts of patients with different forms of demyelinating disease and has played a key role in the establishment of the Pan-Asian MS Registry to investigate regional differences in the prevalence of MS in Asia and the Pacific region.

New forms of pharmacotherapy for patients with demyelinating disorders are being investigated and the Group is participating in international multi-centre therapeutic trials of new agents for the treatment of MS.




  • Narrowband UVB Phototherapy for Clinically Isolated Syndrome: A Trial to Deliver the Benefits of Vitamin D and Other UVB-Induced Molecules. Hart PH, Lucas RM, Booth DR, Carroll WM, Nolan D, Cole JM, Jones AP, Kermode AG. Frontiers in Immunology. 2017 Jan 24;8:3. doi: 10.3389/fimmu.2017.00003.
  • Azathioprine therapy in a case of pediatric multiple sclerosis that was seropositive for MOG-IgG. Zhou Y, Huang Q, Lu T, Sun X, Fang L, Lu Z, Hu X, Kermode A, Qiu W. Journal of Clinical Neuroscience. 2017 Jan 19. pii: S0967-5868(16)30938-9. doi: 10.1016/j.jocn.2016.12.022.
  • The autoimmune risk gene ZMIZ1 is a vitamin D responsive marker of a molecular phenotype of multiple sclerosis. Fewings NL, Gatt PN, McKay FC, Parnell GP, Schibeci SD, Edwards J, Basuki MA, Goldinger A, Fabis-Pedrini MJ, Kermode AG, Manrique CP, McCauley JL, Nickles D, Baranzini SE, Burke T, Vucic S, Stewart GJ, Booth DR. Journal of Autoimmunity. 2017 Jan 4. pii: S0896-8411(16)30284-0. doi: 10.1016/j.jaut.2016.12.006.
  • Pregnancy in neuromyelitis optica spectrum disorder: A multicenter study from South China. Huang Y, Wang Y, Zhou Y, Huang Q, Sun X, Chen C, Fang L, Long Y, Yang H, Wang H, Li C, Lu Z, Hu X, Kermode AG, Qiu W. Journal of Clinical Neuroscience. 2017 Jan 15;372:152-156. doi: 10.1016/j.jns.2016.11.054.
  • Acute reversible seronegative cerebellar ataxia in a young woman with ovarian teratoma. Yau WY, Fabis-Pedrini MJ, Kermode AG. J Neurol Sci. 2016 Oct 15;369:227-8. doi: 10.1016/j.jns.2016.08.033. Epub 2016 Aug 16
  • Common and low frequency variants in MERTK are independently associated with multiple sclerosis susceptibility with discordant association dependent upon HLA-DRB1*1501 status. Binder MD, Fox AD, Merlo D, Johnson LJ, Giuffrida L, Calvert SE, Akkermann R, Ma GZ; *ANZgene., Perera AA, Gresle MM, Laverick L, Foo G, Fabis-Pedrini MJ, Spelman T, Jordan MA, Baxter AG, Foote S, Butzkueven H, Kilpatrick TJ, Field J. PLoS Genet. 2016 Mar 18;12(3):e1005853. doi: 10.1371/journal.pgen.1005853 (Kermode AG & Carroll WM are members of ANZgene Consortium)
  • Response to Interferon Beta Treatment in Multiple Sclerosis patients – A Genomewide Association Study. Mahurkar S, Moldovan M, Suppiah V, Sorosina M, Clarelli F, Liberatore G, Malhotra S, Montalban X, Antigüedad A, Krupa M, Jokubaitis VG, McKay FC, Gatt PN, Fabis-Pedrini MJ, Martinelli V, Comi G, Lechner-Scott J, Kermode AG, Slee M, Taylor BV, Vandenbroeck K, Comabella M, Boneschi FM; Australian and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene)., King C. Pharmacogenomics J. 2016 Mar 22. doi: 10.1038/tpj.2016.20.
  • The low EOMES/TBX21 molecular phenotype in multiple sclerosis reflects CD56+ cell dysregulation and is affected by immunomodulatory therapies. McKay FC, Gatt PN, Fewings N, Parnell GP, Schibeci SD, Basuki MAI, Powell J, Fabis-Pedrini MJ, Kermode AG, Burke T, Vucic S, Stewart GJ, Booth DR. Clin Immunol. 2016 Feb;163:96-107. doi: 10.1016/j.clim.2015.12.015
  • Asymptomatic progressive multifocal leukoencephalopathy during natalizumab therapy with treatment. Fabis-Pedrini MJ, Xu W, Burton J, Carroll WM, Kermode AG. J Clin Neurosci. 2016 Mar;25:145-7. doi: 10.1016/j.jocn.2015.08.027
  • Identifying Patient-Specific Epstein-Barr Nuclear Antigen-1 Genetic Variation and Potential Autoreactive Targets Relevant to Multiple Sclerosis Pathogenesis. Tschochner M, Leary S, Cooper D, Strautins K, Chopra A, Clark H, Choo L, Dunn D, James I, Carroll WM, Kermode AG, Nolan D. PLoS One. 2016 Feb 5;11(2):e0147567. doi:10.1371/journal.pone.0147567
  • Rapid exacerbation of neuromyelitis optica after rituximab treatment. Dai Y, Lu T, Wang Y, Fang L, Li R, Kermode AG, Qiu W. J Clin Neurosci. 2016 Apr;26:168-70. doi: 10.1016/j.jocn.2015.08.033
  • Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis. Zhou Y, Zhu G, Charlesworth JC, Simpson S Jr, Rubicz R, Göring HH, Patsopoulos NA, Laverty C, Wu F, Henders A, Ellis JJ, van der Mei I, Montgomery GW, Blangero J, Curran JE, Johnson MP, Martin NG, Nyholt DR, Taylor BV; ANZgene consortium (Kermode AG & Carroll WM are members of ANZgene Consortium) Mult Scler. 2016 Nov;22(13):1655-1664
  • Tanaka, M., Kinoshita, M., Foley, J.F., Tanaka, K., Kira, J. & Carroll, W.M. (2015). Body weight-based natalizumab treatment in adult patients with multiple sclerosis. Journal of Neurology 262 (3), pp. 781-782.
  • Pedrini, M.J.F., Seewann, A., Bennett, K.A., Wood, A.J.T., James, I., Burton, J., Marshall, B.J., Carroll, W.M. & Kermode, A.G. (2015) Helicobacter pylori infection as a protective factor against multiple sclerosis risk in females, Journal of Neurology, Neurosurgery and Psychiatry, 86 (6), pp. 603-607.
  • Qiu, W., Kermode, A.G., Li, R., Dai, Y., Wang, Y., Wang, J., Zhong, X., Li, C., Lu, Z. & Hu, X. 2015 Azathioprine plus corticosteroid treatment in Chinese patients with neuromyelitis optica, Journal of Clinical Neuroscience, 22 (7), pp. 1178-1182.
  • Pedrini, M.J.F., Seewann, A., Bennett, K.A., Wood, A.J.T., James, I., Burton, J., Marshall, B.J., Carroll, W.M., & Kermode, A.G. (2015) Helicobacter pylori infection as a protective factor against multiple sclerosis risk in females Journal of Neurology, Neurosurgery and Psychiatry 86 (6), pp. 603-607
  • An Goris, Ine Pauwels, Marte W. Gustavsen, Brechtje Van Son, Kelly Hilven, Steffan D. Bos, Elisabeth Gulowsen Celius, Pål Berg-Hansen, Jan Aarseth, Kjell-Morten Myhr, Sandra D’Alfonso, Nadia Barizzone, Maurizio A. Leone, Filippo Martinelli Boneschi, Melissa Sorosina, Giuseppe Liberatore, Ingrid Kockum, Tomas Olsson, Jan Hillert, Lars Alfredsson, Sahl Khalid Bedri, Bernhard Hemmer, Dorothea Buck, Achim Berthele, Benjamin Knier, Viola Biberacher, Vincent van Pesch, Christian Sindic, Annette Bang Oturai, Helle Bach Søndergaard, Finn Sellebjerg, Poul Erik Jensen, Manuel Comabella, Xavier Montalban, Jennifer Pérez-Boza, Sunny Malhotra, Jeanette Lechner-Scott, Simon Broadley, Mark Slee, Bruce Taylor, Allan G. Kermode, Pierre-Antoine Gourraud, International Multiple Sclerosis Genetics Consortium, Stephen J. Sawcer, Bettina K. Andreassen, Bénédicte Dubois, Hanne F. Harbo. Genetic variants are major determinants of cerebrospinal fluid antibody levels in multiple sclerosis. Brain. 2015. Mar;138 (Pt 3):632-43. doi: 10.1093/brain/awu405. Epub 2015 Jan 22. PMID: 25616667.
  • Broadley SA, Barnett MH, Boggild M, Brew BJ, Butzkueven H, Heard R, Hodgkinson S, Kermode AG, Lechner-Scott J, Macdonell R, Marriott M, Mason DF, Parratt J, Reddel S, Shaw C, Slee M, Spies J, Taylor BV, Carroll WM, Kilpatrick TJ, King J, McCombe P, Pollard JD, Willoughby E. A new era in the treatment of multiple sclerosis. 2015. MJA, in press.
  • Zhu X, Dian H, Hao W, Qingsong W, Yifan Z, Yingwu Z, Yuan L, Gang C, Krantic S, Kermode AG. Association between the single nucleotide polymorphism and the level of aquaporin-4 protein expression in Han and Minority Chinese with inflammatory demyelinating diseases of the central nervous system. 2015. Molecular Neurobiology DOI: 10.1007/s12035-015-9171-9.
  • Pedrini MJF, Xu W, Burton J, Carroll WM, Kermode AG. 2015. Asymptomatic progressive multifocal leukoencephalopathy during natalizumab therapy with treatment. Journal of Clinical Neuroscience.


Prof Steve Wilton, C/Prof Allan Kermode, Dr Rakesh Veedu, Prof Sue Fletcher and Dr May Thandar Aung-Htut received $50,000 from MS Research Australia for “Blocking genes to treat MS”.

Dr Marzena Pedrini has received a MSWA Postdoctoral Fellowship through UWA for 2 years which includes projects; “Exploring the mechanisms of MS pathogenies” and the HSCT (stem cell) register.

A/Prof Michelle Byrnes, C/Prof Allan Kermode & Dr Jason Burton have been funded by MSWA for their project: “Enhancing the Cognitive Functioning of Adults with Multiple Sclerosis: Integrated Cognitive and Psychosocial Therapy”.

Myositis Research

Our Myositis Research has had a longstanding focus of the investigation of clinical, genetic and immunological aspects of the inflammatory myopathies (IBM), with a particular focus on inclusion body myositis, the most common muscle disease associated with aging. The inflammatory myopathies are a rare group of diseases that involve chronic muscle inflammation (myositis), accompanied by muscle weakness. Chronic inflammatory myopathies are autoimmune disorders, in which the body’s white blood cells (that normally fight disease) attack normal muscle fibres, and other tissues.

Research Focus

The research team is investigating the different causes of myositis, particularly focusing on genetic pre-disposing factors, by looking at myositis patient DNA, and finding common genes. The research team was responsible for the first population-based controlled study of serum autoantibody profiles in IBM, which showed that some HLA-DRB alleles are protective, while other alleles are associated with increased risk. Similarly, the research team established that the very long poly-T repeat length in the rs10524523 polymorphism of the mitochondrial TOMM-40 gene is associated with a reduced risk of developing IBM and a later age of symptom onset. Studies on transgenic mice have shown that, although there is increased expression of the β-amyloid precursor protein in muscle, this does not lead to deposition of amyloid or other histological changes typical of IBM.

The research team focuses on finding the best diagnostic techniques to facilitate early diagnosis of IBM as well as exploring the complications of myositis, including respiratory complications.




  • Recognition of giant cell arteritis in patients with polymyalgia rheumatica who have a stroke: a cautionary tale, Gutteridge DH, Mastaglia FL, Internal Medicine Journal (accepted for publication November 2016).
  • Sporadic Inclusion Body Myositis: A Review of Recent Clinical Advances and Current Approaches to Diagnosis and Treatment, Needham M, Mastaglia F, Clinical Neurophysiology. 2016; 127(3)1764-1773. PMID:26778717
  • Immunotherapies for Immune-Mediated Myopathies. A Current Perspective. Needham M, Mastaglia FL, Neurotherapeutics. 2016; 13(1):132-146. PMID:26586486. PMCID:4720681.
  • Proposal for a Candidate Core Set of Fitness and Strength Tests for Patients with Childhood or Adult Idiopathic Inflammatory Myopathies. van der Stap DK, Rider LG, Alexanderson H, Huber AM, Gualano B, Gordon P, van der Net J, Mathiesen P, Johnson LG, Ernste FC, Feldman BM, Houghton KM, Singh-Grewal D, Kutzbach AG, Munters LA, Takken T; International Myositis Assessment and Clinical Studies Group (including Mastaglia F). Journal of Rheumatology 2016; 43(1):169-176. PMID:26568594. PMCID:4698199
  • Diagnostic performance of a commercial Immunoblot assay for myositis antibody testing. Bundell C, Rojana-udomsart A, Mastaglia F, Hollingsworth P, McLean-Tooke A. Pathology. 2016; 48(4); 363-366. PMID:27114370
  • Mortality and causes of death in patients with sporadic inclusion body myositis: survey study based on the clinical experience of specialists in Australia, Europe and the USA. Price MA, Barghout V, Benveniste O, Christopher-Stine L, Corbette A, de Visser M, Hilton-Jones D, Kissel JT, Lloyd TE, Lundberg IE, Mastaglia F, Mozaffar T, Needham M, Schmidt J, Sivakumar K, DeMuro C, Tseng BS. Journal of Neuromuscular Disorders. 2016; 3(1):67-75
  • Serum high-density lipoprotein is associated with better cognitive function in a cross-sectional study of aging women. Bates KA, Sohrabi HR, Rainey-Smith SR, Weinborn M, Bucks RS, Rodrigues M, Beilby, Howard M, Taddei K, Martins G, Paton A, Shah T, Dhaliwalh SS, Foster JK, Martins IJ, Lautenschlager NT, Mastaglia FL, Gandy S, Martins RN. International Journal of Neuroscience. 2016 April 25. [Epub ahead of print]. DOI:10.1080/00207454.2016.1182527
  • Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H, The Muscle Study Group and The International IBM Genetics Consortium (including Mastaglia F). Neurobiology of Aging. 2016; 47:218.e1-218.e9. doi: 10.1016/j.neurobiolagingBook Chapter

    Chapter 122: Inclusion body myositis. In: Lisak RP, Truong DD, Carroll WM, Bhidayasiri R, editors Needham M, Mastaglia FL. International Neurology, 2nd edition. John Wiley & Sons, Chichester, UK; 2016. p.505-507

  • Mastaglia, F.L. & Needham, M. (2015) Inclusion body myositis: A review of clinical and genetic aspects, diagnostic criteria and therapeutic approaches
 Journal of Clinical Neuroscience 22 (1), pp. 6-13
  • Silbert, B.I., Heaton, A.E., Cash, R.F.H., James, I.R., Dunne, J.W., Lawn, N.D., Silbert, P.L., Mastaglia, F.L. & Thickbroom, G.W. (2015). Evidence for an excitatory GABAA response in human motor cortex in idiopathic generalised epilepsy, Seizure, 26 (1), pp. 36-42.
  • De Bleecker, J.L., De Paepe, B., Aronica, E.M., De Visser, M., Amato, A., Benveniste, O., De Bleecker, J.L., De Boer, O., Dimachkie, M.M., Ghérardi, R.K., Goebel, H.H., Hilton- Jones, D., Holton, J.L., Lundberg, I.E., Mammen, A., Mastaglia, F.L., Nishino, I., Mammen, A.L., Daa Schroder, H., Selcen, D. & Stenzel, W. (2015). 205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28-30 March 2014, Naarden, The Netherlands, Neuromuscular Disorders, 25 (3), pp. 268-272.
  • Johnson, L., Rodrigues, J., Teo, W.-P., Walters, S., Stell, R., Thickbroom, G., Mastaglia, F. (2015) Interactive effects of GPI stimulation and levodopa on postural control in Parkinson’s disease Gait and Posture 41 (4), pp. 929-934.
  • Sohrabi, H.R., Bates, K.A., Weinborn, M., Bucks, R.S., Rainey-Smith, S.R., Rodrigues, M.A., Bird, S.M., Brown, B.M., Beilby, J., Howard, M., Criddle, A., Wraith, M., Taddei, K., Martins, G., Paton, A., Shah, T., Dhaliwal, S.S., Mehta, P.D., Foster, J.K., Martins, I.J., Lautenschlager, N.T., Mastaglia, F., Laws, S.M. & Martins, R.N. (2015) Bone mineral density, adiposity, and cognitive functions Frontiers in Aging Neuroscience 7 Issue FEB, Article 16.
  • Huang, Y., Wang, G. , Rowe, D., Wang, Y., Kwok, J.B.J., Xiao, Q., Mastaglia, F., Liu, J., Chen, S.-D. & Halliday, G. (2015) SNCA gene, but not MAPT, influences onset age of Parkinson’s disease in Chinese and Australians BioMed Research International 2015, 135674
  • Luo, Y.-B. & Mastaglia, F.L. (2015) Dermatomyositis, polymyositis and immune-mediated necrotising myopathies Biochimica et Biophysica Acta – Molecular Basis of Disease 1852, pp. 622-632.
  • Limaye, V., Bundell, C., Hollingsworth, P., Rojana-Udomsart, A., Mastaglia, F., Blumbergs, P. & Lester, S. (2015) Clinical and genetic associations of autoantibodies to 3-hydroxy-3-methyl-glutaryl-coenzyme a reductase in patients with immune-mediated myositis and necrotizing myopathy Muscle and Nerve – Article in press
  • Anderton RS, Meloni BP, Mastaglia FL, Boulos S.  2014. Investigation of a recombinant SMN protein delivery system to treat spinal muscular atrophy. Translational Neuroscience. 2014; 5(1):8-16.
  • Edwards DJ, Dipietro L, Demirtas-Tatlidede A, Medeiros AH, Thickbroom GW, Mastaglia FL, Krebs HI, Pascual-Leone A.  Movement-generated afference paired with transcranial magnetic stimulation: an associative stimulation paradigm.  J Neuroengineering & Rehabilitation  2014; 11:31.
  • Greene ID, Mastaglia F, Meloni BP, West KA, Chieng J, Mitchell CJ, Gai WP, Boulos S.  Evidence that the LRRK2 ROC domain Parkinson’s disease-associated mutants A1442P and R1441C exhibit increased intracellular degradation.  J Neuroscience Research 2014; 92(4):506-516.
  • Greer KL, Lochmuller H, Flanigan K, Fletcher S, Wilton SD. Targeted exon skipping to correct exon duplications in the dystrophin gene. Molecular therapy Nucleic acids 2014; 3:e155.
  • Huang Y, Wang G, Rowe D, Wang Y, Kwok J B J, Xiao Q, Mastaglia FL.  SNCA Gene, but Not MAPT, Influences Onset Age of Parkinson’s Disease in Chinese and Australians.  Biomedical Research International. Vol 2014, Article ID 135674, 6 pages.
  • Kakulas BA, Kaelan C. The neuropathological foundations for the restorative neurology of spinal cord injury.  Clinical Neurology and Neurosurgery, 128 S1  PP 51-57.
  • Kanyenda LJ, Verdile G, Martins RN, Meloni BP, Chieng, J, Mastaglia FL, Laws SM, Anderton RS, Boulos, S. (2014). Is cholesterol and Aβ stress induced CD147 expression a protective response?: evidence that extracellular cyclophilin A mediated neuroprotection is reliant on CD147. Journal of Alzheimer’s Disease 39, 545–556.
  • Limaye V, Bundell C, Hollingsworth P, Rojana-Udomsart A, Mastaglia FL, Blumbergs P, Lester S. The clinical and genetic associations of autoantibodies to HMGCR in patients with immune-mediated myositis and necrotizing myopathy.  Muscle & Nerve.  2014 Dec 18.
  • Luo YB, Mastaglia FL, Wilton SD.  Normal and aberrant splicing of LMNA.  J Medical Genetics 2014; 51(4): 215-223.
  • Luo YB, Mastaglia FL.  Dermatomyositis, polymyositis and immune-mediated necrotising myopathies. Biochim Biophys Acta. 2014 Jun 4. pii: S0925-4439(14)00162-8.
  • Luo YB, Mitrpant C, Adams AM, Johnsen RD, Fletcher S, Mastaglia FL, Wilton SD.  Antisense oligonucleotide induction of progerin in human myogenic cells.  PLoS ONE. 2014; 9(6):e98306.
  • Mastaglia FL, Needham M.  Inclusion body myositis: A review of clinical and genetic aspects, diagnostic criteria and therapeutic approaches.  Journal of Clinical Neuroscience 2014; [Epub ahead of print]  pii: S0967-5868(14)00619-5.
  • Meloni BP and Knuckey NW (2014). Magnesium may provide further benefit to hypothermia following perinatal asphyxia encephalopathy. Journal of Perinatal Medicine, 43, 125-126. Letter to the Editor.
  • Needham M, Mastaglia FL.  Statin myotoxicity: a review of genetic susceptibility factors.  Neuromuscular Disorders.  2014; 24(1):4-15.
  • Rodriguez CPM, Needham M, Hollingsworth P, Mastaglia FL, Hillman DR.  Sleep disordered breathing and subclinical impairment of respiratory function are common in sporadic inclusion body myositis.  Neuromuscular Disorders  2014; 24(12):1036-1041.
  • Rodriguez Cruz PM, Luo YB, Miller J, Junckerstorff RC, Mastaglia FL, Fabian V. An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies. Neuromuscular Disorders 2014; 24:1025-1035.
  • Strautins K, Tschochner M, James I, Choo L, Dunn DS, Pedrini M, Kermode A, Carroll W, Nolan, D. Combining HLA-DR and anti-Epstein-Barr antibody. Multiple Sclerosis Journal 2014;20(3):286-294.
  • Teo WP, Rodrigues JP, Mastaglia FL, Thickbroom GW.  Modulation of corticomotor excitability after maximal or sustainable-rate repetitive finger movement is impaired in Parkinson’s disease and is reversed by levodopa.  Clinical Neurophysiology 2014; 125(3):562-568.


NHMRC 2010 – 2013

Definition of dystrophin functional domains according to exon boundaries to optimise splice switching therapies for Duchenne muscular dystrophy $520,764

National Institute Health (NIH) 2010 – 2012

Antisense oligonucleotide suppression of non-deletion DMD causing mutations

Muscular Dystrophy Association (USA) 2010 – 2012

Preclinical assessments of splice switching oligomers

Duchenne Ireland 2010 – 2012

Personalised exon skipping for the treatment of DMD

Action Duchenne 2010 – 2012

Exon Skipping of important parts of the dystrophin gene message

Parkinson’s Research

The objective of the Perron Institute’s Parkinson’s Research, led by Clinical Professor Soumya Ghosh, Professor Frank Mastaglia and Clinical Professor Michelle Byrnes, is to better understand Parkinson’s, the markers of disease progression and the causative factors to improve management and quality of life of people suffering.

Parkinson’s is a chronic neurodegenerative disease second only to Alzheimer’s disease in its global prevalence. Despite being widespread and affecting many individuals, very little is known about what factors cause Parkinson’s, with considerable variation in the age that symptoms commence, how rapidly it progresses and how people respond to treatment.

Research Focus

At present, very little is known about Parkinson’s and studies unveiling factors contributing to the disease, or biomarkers of the disease are necessary. To this end, the Parkinson’s Disease Research being conducted at the Perron Institute aim to:

  • Study how genes, treatments, the environment and clinical features influence the cause progression and course of Parkinson’s.
  • Identify early biomarkers of Parkinson’s, of cognitive decline in Parkinson’s and of impulse control disorders in Parkinson’s.
  • Study patient demographics and possible underlying risk factors influencing the cognitive decline and/or development of impulse control disorders in Parkinson’s.
  • Create a bio-bank of Parkinson’s patient data and control data for future researchers and research methods.
  • Maintain the Parkinson’s Disease Registry.


Soumya Ghosh

Frank Mastaglia

Rick Stell

Michelle Byrnes

Ryan Anderton

Megan Bakeberg

Maddeson Riley

Jennifer Eisenhauer

Alexa Jefferson