Our Research

BRAIN TUMOURS

Glioma is the most common type of primary brain tumour. Despite recent therapeutic advances, patients with high grade gliomas have an overall poor outcome and will ultimately die of the disease. Our research aims at understanding the mechanisms involved in glioma formation and progression. We are particularly interested in a gene called isocitrate dehydrogenase 1 (IDH1), which is commonly mutated in brain tumours. We are currently investigating how mutations of IDH1, or chemical modifications to IDH1 contribute to glioma through epigenetic perturbations. By understanding how glioma forms, we hope to reveal new possibilities of novel therapies and strategies for detection of glioma in its earliest stages in the future. Please click below for recent publications on this topic.

• Expanding the spectrum of IDH1 mutations in gliomas
• Promoter Methylation Analysis of IDH Genes in Human Gliomas
• Isocitrate dehydrogenase mutations in diffuse gliomas: clinical and aetiological implications 

Most cells are capable of shedding small membrane bound particles (< 1 μm in size) called microvesicles. Microvesicles contain a diverse array of proteins, RNA and DNA. These microvesicles can be taken up by other cells, and they represent an underappreciated pathway for cell-to-cell communication. In glioma cells, the rate of microvesicle shedding is exacerbated. These glioma derived microvesicles have been linked to tumour growth, tumour infiltration, and vascularisation.

A recent study of ours characterised the RNA content in these glioma micro-vesicles and found many previously undescribed RNAs. The characterisation of these novel RNAs may greatly enhance our understanding of how gliomas mould their local environment to permit their growth. Click here for our recent publication on this topic.

Gliomas are widely infiltrative tumours. We hope in the future to better characterise those particular tumour cells that display highly invasive behaviour. We believe this subpopulation of glioma cells are responsible for tumour recurrence.

MULTIPLE SCLEROSIS AND OTHER NEUROINFLAMMATORY DISEASES

RPA Neuropathology is actively involved in brain banking for multiple sclerosis (MS). We work closely with neurologists to assist in the characterisation and classification of MS and other less common neuro-inflammatory diseases. Please click below to see recent publications on these topics.

• Expanding the clinical, radiological and neuropathological phenotype of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS)
  
• Massive astrocyte destruction in neuromyelitis optica despite natalizumab therapy

CJD AND OTHER NEURODEGENERATIVE DISEASES

RPA Neuropathology works closely with the Australian National CJD registry to classify and characterise CJD in NSW. For recent publications on CJD please click below.

• Sporadic Creutzfeldt-Jakob disease presenting as spastic paraparesis
• Genetic prion disease-associated myelodysplasia and SIADH in siblings
• Unusual Clinical and Molecular-Pathological Profile of Gerstmann-Sträussler-Scheinker Disease Associated With a Novel PRNP Mutation 

A/Prof Roger Pamphlett has a longstanding interest in motoneuron disease (MND) and is an internationally recognised leader in MND research. For a list of his publications please click here.