Centre of Research Excellence in Neuromuscular Disorders
The Centre of Research Excellence in Neuromuscular Disorders is a collaboration of neuromuscular experts. It uses the latest approaches in medicine, science, nursing and allied health to improve diagnosis, facilitate prevention and transform treatment from compassionate management to effective therapy.
Why research neuromuscular disorders?
While some disorders cause mild muscle weakness, others are severe and make it impossible to walk, or cause vital organs such as the heart and lungs to eventually fail.
There is currently no cure or way to prevent neuromuscular conditions.
The best treatments available are only able to delay the start of symptoms or reduce their severity.
Neuromuscular disorders are life-long conditions requiring ongoing treatment and expensive support aids like wheelchairs, walkers or mechanical lifts. Some parents of children with a neuromuscular disorder reduce or leave paid employment to be able to care for their child. This can cause financial and emotional strain for families, and also impacts the community through an increased welfare burden and reduced national productivity.
The Centre of Research Excellence in Neuromuscular Disorders brings together leading researchers across Australia. These experts include:
Professor Kathryn North AM
Child Neurologist and Clinical Geneticist
Kathryn is the Director of the Murdoch Childrens Research Institute and the David Danks Professor of Child Health Research at the University of Melbourne.
She is a clinician-scientist with a research focus on the molecular basis of inherited muscle disorders, as well as on the genes that influence normal skeletal muscle function and elite athletic performance. She is also involved in clinical trials of therapies for muscular dystrophy, and the development of interventions for children with learning disabilities.
Kathryn has received a number of awards for her research including the GlaxoSmithKlein Australia Award for Research Excellence (2011), the Ramaciotti Medal for Excellence in Biomedical Research (2012) and a Member of the Order of Australia (AM) for service to medicine in the field of neuromuscular and neurogenetics research (2012).
In 2012, Professor North was appointed Chair of the NHMRC Research Committee and Member of NHMRC Council and in 2014 was appointed Vice Chair of the Global Alliance for Genomics and Health, an international consortium of more than 200 institutions promoting the sharing of genomic and clinical data.
Winthrop Research Professor Nigel Laing AO
Nigel is a senior researcher and leader of the Neurogenetic Diseases Group at the University of Western Australia and Centre for Medical Research at the Harry Perkins Institute of Medical Research.
He has worked in genetic and muscle research for almost 40 years. His research laboratory has identified more than 20 genes involved in human diseases, including genetic mutations associated with congenital myopathies and Laing distal myopathy. Nigel’s current research focuses on identifying the genes involved in neurogenetic disorders, particularly recessive genetic conditions affecting newborns, like nemaline myopathy.
Nigel is the Scientific Director of the Western Australian Department of Health Neurogenetics Unit, which handles referrals for the diagnosis of neurogenetic disorders across Australasia. In the last two years, the Unit has pioneered the use of next generation sequencing for neurogenetic diseases – a diagnostic technique that will enable more accurate and efficient identification of these diseases.
Nigel was the recipient of the Sutherland Lecturer award of the Human Genetics Society of Australasia in 2010, and the Donald Wassenberg Memorial Lecturer on Genetic Disease Research in 2013 (San Diego State University). He has also received several Excellence in Teaching Awards (2010, 2013 and 2014), as well as the Vice Chancellor's Senior Researcher award in 2014 (University of Western Australia).
Associate Professor Andrew Kornberg
Andrew is a senior doctor and Head of the Department of Neurology at The Royal Children’s Hospital, Melbourne. He is also a senior researcher and leader of the Neuroscience Research Group at the Murdoch Childrens Research Institute.
He has had extensive experience in researching and treating immune-mediated neurologic syndromes, including Guillain-Barré syndrome, Miller Fisher syndrome, multifocal motor neuropathy, chronic inflammatory demyelinating polyneuropathy (CIDP), childhood multiple sclerosis and acute disseminated encephalomyelitis. His current research focuses on childhood multiple sclerosis as well as developing treatments for muscular dystrophy.
Andrew is a member of the steering committee of the IPMSSG (International Pediatric Multiple Sclerosis Study Group).
Professor Joshua Burns
Josh is Professor of Paediatric Neuromuscular Rehabilitation at the University of Sydney. He is also a senior allied health practitioner (Podiatrist) at The Children’s Hospital at Westmead in Sydney, and a senior researcher at the Murdoch Childrens Research Institute in Melbourne.
His research focuses on the effects that nerve, muscle and brain disorders have on the lower limbs. He is particularly interested in clinical trials that integrate biomechanics, neurogenetics and rehabilitation in an attempt to more effectively treat children and adults with neuromuscular disorders.
Josh also heads up the Paediatric Gait Analysis Service of NSW and leads the Sydney Arthritis and Musculoskeletal research group at The University of Sydney. Josh has received a number of awards including a Young Tall Poppy Science Award (2007), a Fulbright Scholarship to work in Michigan (2009) and two NHMRC Research Fellowships (Australian Clinical Research Postdoctoral Fellowship 2006; Career Development Fellowship 2011).
Associate Professor Monique Ryan
Monique is a senior doctor and head of the Neuromuscular Clinic at The Royal Children’s Hospital, Melbourne. She is also a senior researcher at the Murdoch Childrens Research Institute.
She is committed to improving the diagnosis and management of children affected by muscular dystrophies, myopathies and neuropathies. Her research follows the development of childhood neuropathies over time as well as trialling new therapies for muscle diseases and neuropathies.
Monique is a member of several international neuromuscular research groups, a board member of the Cooperative International Neuromuscular Research Group and a member of the TREAT-NMD therapeutic advisory committee. She has received awards for her clinical research from the Child Neurology Society (USA) (2000), American Academy of Neurologists (2002), and the 11th International Congress on Neuromuscular Disorders (2006).
Associate Professor Nigel Clarke
Nigel is a senior doctor at the Children’s Hospital at Westmead Sydney, where he also leads the hospital’s Institute for Neuroscience and Muscle Research. He also holds an academic position at the Sydney Medical School.
He has a wealth of experience in both the clinical treatment of, and laboratory research into, neuromuscular disorders and muscle disease. His research focuses on improving the diagnosis of inherited and congenital myopathies through better understanding their genetic origins.
Nigel was awarded an NHMRC Career Development Fellowship in 2012.
Professor Alastair Corbett
Alastair is a senior doctor and head of the Neurology Department at Concord Hospital in Sydney. He is also the Director of Stroke Services in the Sydney Local Health District, and Associate Professor at the University of Sydney.
His research focuses on the effects of the drug triheptanoin in people with Pompe disease and inclusion body myositis. He is also interested in the bone health of people with facioscapulohumeral muscular dystrophy.
Alastair is the former director of Muscular Dystrophy New South Wales and is the current chairman of the NSW Neurology State Education and Training Committee.
Professor Kathryn Refshauge
Kathryn is a senior researcher and the Dean of the Faculty of Health Sciences and Professor of Physiotherapy at the University of Sydney.
She is internationally recognised for her research in musculoskeletal injury, in particular sports injuries, back pain and neck pain.
Kathryn has received several awards for her work, including from the Australian Physiotherapy Association and the Charcot-Marie-Tooth Association. She has contributed significantly to numerous government and professional organisations, including the Board of Sports Medicine Australia, the NSW Population and Health Services Research Ethics committee, the Australian Physiotherapy Council, and the University of Sydney Human Research Ethics Committee.
Associate Professor Michael Buckley
Molecular geneticist and genetic pathologist
Michael is a doctor and clinical scientist who specialises in diagnosing genetic conditions. He is the clinical director of the Genetics laboratory of South Eastern Area Laboratory Services, Sydney – a large diagnostic genetics laboratory service with diverse interests including cancer genetics, the genetics of intellectual disability, craniofacial and neuromuscular disorders.
He has skills in diagnostic testing of people with mendelian disorders, including novel test development, implementation, validation and accreditation, as well as the clinical interpretation of next generation DNA sequencing data.
Professor Catriona McLean
Catriona is a doctor and senior scientist with a special interest in diseases of the nervous system. She is the Director of Anatomical Pathology at Alfred Health, where she also leads a NATA-accredited molecular pathology laboratory. She is a Professor in the Central Clinical School (Alfred Health) and Professor and head of Howard Florey Neurosciences Victorian Brain Bank and Director and senior neuropathologist for the Victorian Neuromuscular Service, with honorary neuropathology appointments at The Royal Children’s Hospital, Melbourne and Monash Medical Centre.
Her research focuses on understanding the mechanism of cell destruction in diseases of nerve and muscle, and in the pathways involved in development of tumour cells in breast and liver cancer.
Catriona is a scientific advisory board member of Neuroscience Victoria, the Multiple Sclerosis Society, the Victorian and the Australian brain bank networks, the Cancer Council of Victoria, and the Motor Neuron Disease Brain Bank.
The Australasian Neuromuscular Network
The Australasian Neuromuscular Network (ANN) was founded in 2010 by members of the Centre of Research Excellence in Neuromuscular Disorders in partnership with other neuromuscular specialists, allied health professionals, scientists and patient advocates across Australia and New Zealand.
The ANN exists to enable those working in the field to share knowledge and work together to more effectively research, diagnose, treat and advocate for those with neuromuscular disorders.
Other collaborating bodies and groups
This survey aims to identify opportunities to improve the quality of care in Australia, as well as access to care for those with Duchenne muscular dystrophy. The survey is gathering information on access to treatment centres and availability of supportive equipment, as well as the functional ability, disease stage, educational attainment and participation in society among those with Duchenne muscular dystrophy.
The 1,000 Norms Project
This study examines the physical capabilities of 1,000 healthy people aged between 3 and 100 years to identify what the range of ‘normal’ variation is in a healthy population and the influence genes have on physical capabilities.
This project is an eight-year ‘natural history’ study of children with Duchenne muscular dystrophy, aiming to track changes over time in their physical abilities, medical problems and experience of health care services.
Dystrophinopathies are a group of diseases that include Duchenne muscular dystrophy. A type of gene change called a ‘nonsense mutation’, is responsible for about 10-15% of dystrophinopathies, where it halts the production of the dystrophin protein, which is vital for proper muscle structure and function. This trial is assessing the safety of the drug ‘Ataluren’ and its potential effectiveness in correcting nonsense mutations to enable the body to produce this important dystrophin protein.
This study is examining the reliability of the tests used to predict when boys with Duchenne muscular dystrophy will begin to experience breathing problems during sleep, in order to detect and treat this problem as early as possible.
This study is looking at whether nutritional supplements can help to maintain or improve the functional abilities of boys with Duchenne muscular dystrophy.
The effects of calf massage in boys with Duchenne muscular dystrophy
Boys with Duchenne muscular dystrophy have progressive muscle weakness that is associated with muscle stiffness, muscle shortening and sometimes pain. Many families use massage therapy to address some of these symptoms, despite the lack of scientific evidence of benefit.
The aim of this study is to assess the effectiveness of calf massage on ambulant boys with Duchenne muscular dystrophy, in order to provide advice to families regarding its use.
The Triple F study – Footwear, fatigue and falls in paediatric neuromuscular disease
Children and teens with weakness caused by neuromuscular disorders such as Charcot-Marie-Tooth disease, Duchenne muscular dystrophy and Becker muscular dystrophy often complain of problems with walking. These problems include: difficulties when wearing different types of footwear; frequent trips and falls; and physical fatigue when walking longer distances.
The Triple F study is exploring whether different fitting footwear effects walking among children and teens with these neuromuscular disorders. The study is also examining whether walking changes over distance and the incidence of falls in this population.
CMT Gene Explorer
The CMT Gene Explorer is an educational app developed for early career neurologists, medical trainees and clinicians looking to further understand the genetic basis of Charcot-Marie-Tooth disease (CMT).
The CMT Gene Explorer has been developed from a set of algorithms that combine clinical phenotypes, neurophysiology and prevalence of CMT. It guides the user through a series of simple steps for identifying and prioritising genes to test CMT.
To begin, search CMT GE in the app store and download to iPad for FREE. Tap on ‘new test’ in the app and follow the simple steps.
For more background information and directions on its use, see the ABOUT and Conditions of Use sections of the app.
Practice Brief for Duchenne muscular dystrophy
A practice brief examining the use of creatine monohydrate for the treatment of muscle weakness in Duchenne Muscular Dystrophy (DMD) has been developed by Professor Monique Ryan and her team at the Royal Children's Hospital and Centre of Research Excellence in Neuromuscular Disorders.
The Brief has been developed for paediatricians, paediatric neurologists and other medical & allied health professionals involved in the care of those with DMD.
Practice Brief for Charcot-Marie-Tooth disease
A Practice Brief focusing on foot care for people with Charcot-Marie-Tooth disease (CMT) has been developed by Professor Josh Burns and the Centre of Research Excellence in Neuromuscular Disorders. The resource has been especially designed for frontline allied health clinicians such as Podiatrists, Physiotherapists, Orthotists and Pedorthists.
The CMTPedS Calculator
The CMTPedS Calculator is a user-friendly online tool developed to support the CMT Pediatric Scale, which collects validated measures of strength, dexterity, sensation, gait, balance, power and endurance to establish severity of disease and monitor changes over time in children with Charcot-Marie-Tooth disease (CMT). It can also be used to evaluate outcomes in studies of existing or new treatments for CMT.
Clinicians and researchers can enter patient data live into the CMTPedS Calculator to rapidly determine disease severity and generate a clinical report for patient correspondence and records. To start using the calculator, go to www.cmtpeds.org