Institute for Neuroscience and Muscle Research
Group leader
On this page:
Overview
The Institute for Neuroscience and Muscle Research (INMR) investigates causes, consequences and therapies for specific inherited and acquired neurological diseases such as the muscular dystrophies, peripheral neuropathies, neuroinflammatory disorders such as multiple sclerosis and neurofibromatosis type 1.
The INMR is a multi disciplinary team involving over 40 clinician, research scientists, genetic counsellors, physiotherapists, occupational therapists and psychologists, who care for over 1800 patients and their families.
Research is directly relevant to patients – clinical trials can be immediately incorporated into treatments and therapies and the diagnostic service provides families with accurate diagnosis and disease specific treatment. The integration of clinical and laboratory research and the clinical interface with patients within a hospital setting makes the INMR unique. Its research and the clinical care it provides patients are recognised for their excellence nationally and internationally.
Research achievements
Our research focuses on three major areas: to identify the cause of these disorders and enable accurate diagnosis; to understand why dysfunction of a particular gene or protein results in weakness, and thus improve treatment, and to develop specific therapies and interventions that will overcome or alleviate physical disabilities.
Innovative therapies for muscular dystrophies, particularly Duchenne Muscular Dystrophy (DMD), are resulting in significant benefits for our patients. Access to these therapies has improved the lifespan by up to 15 years and the INMR Clinical Trials and Quality of Life Program will continue to deliver benefits to our patients. Our current clinical trials include exon skipping for DMD, a therapy that holds great promise, and a global trial of PTC124 (Ataluren), a novel compound that aims to directly correct the genetic defects in a subset of patients.
Understanding the mechanisms of muscle function in human health and disease has led us to new insights into a number of dystrophies, potentially improving clinical diagnosis and leading to the development of specific therapies. Our novel finding of a gene associated with human athletic performance has led us to the intriguing discovery that the gene is also linked to increased susceptibility to obesity and diabetes. In a world first, we led the first paediatric trial of ascorbic acid (Vitamin C) for Charcot-Marie-Tooth Disease (CMT) type 1A in Australia. Results of this study will contribute to international health policy and to improved clinical care of children with CMT type 1A.
We have established a diagnostic service for inherited myopathies and congenital and limb girdle muscular dystrophies, offering unequivocal diagnosis for more than 30 of 60 identified disorders. The subsequent development of a biospecimen bank has improved the clinical and molecular classifications of muscular dystrophies and has allowed us to better understand the pathogenic mechanisms underlying the disorders. This service is available free of charge to clinicians throughout Australia and South-East Asia.
We have identified an important autoimmune response against a protein in children with acute brain demyelination. This finding has potential implications for childhood and adult multiple sclerosis, and will hopefully define tailored therapy in the future.
We have established a Neurosurgery Research group studying potential therapies for hydrocephalus and brain tumours.
We are also leading clinical trials for children and adults with the inherited tumour disorders neurofibromatosis types 1 and 2 (NF1 and NF2). The INMR is the lead institution in an international trial of Lovastatin for the treatment of cognitive deficits in NF1. We have recently initiated trials of two novel agents for the treatment of devastating tumours that affect vision and hearing in children and adults with neurofibromatosis.
