Scientific & Medical Advisory Panel (SMAP)
Scientific and Medical Advisory Panel
The AMDF Scientific and Medical Advisory Panel is comprised of world class researchers and clinicians in the field of mitochondrial disease. The role of the panel is to advise the AMDF Board on how best to apply funds raised by the mitochondrial disease community, and assessing the merits of various applications for AMDF grants.
The panel is also point of reference responding to medical and research questions from the mitochondrial disease community, the media, politicians and other interested parties.
The Scientific & Medical Advisory Panel members are:
- Chair: Professor David Thorburn
- Deputy Chair: Professor Carolyn Sue
- Dr Shanti Balasubramaniam
- Dr John Duley
- Professor Aleksandra Filipovska
- Dr Roula Ghaoui
- Professor John Christodoulou
- Dr Doug Lingard
- Professor Mike Ryan
- Associate Professor Nigel Turner
Professor David Thorburn received his PhD in Biochemistry from the University of Sydney in 1987 before completing a Fulbright Fellowship with Professor Ernie Beutler at Scripps Clinic, La Jolla (San Diego), California. Professor Thorburn returned to Australia in 1990, and is currently an NHMRC Principal Research Fellow at the Murdoch Childrens Research Institute, located in the Royal Children’s Hospital in Melbourne. He holds honorary appointments in the Department of Paediatrics, University of Melbourne and with Genetic Health Services Victoria. David is a former President of the Human Genetics Society of Australasia and a former member of the Scientific Advisory Board for the United Mitochondrial Disease Foundation (USA).
Professor Thorburn’s Mitochondrial Research Laboratory is primarily involved in research but also acts as the Australasian referral centre for diagnosis of mitochondrial disease in children. His lab has diagnosed more than 400 patients with mitochondrial disease and published over 100 scientific journal articles and reviews. David’s research focuses on the genetic basis of mitochondrial energy generation diseases. He has had a particular interest in understanding how mitochondrial DNA mutations are passed on from mothers to their children, and translating this knowledge into approaches for genetic counselling, prenatal diagnosis and prevention. He also studies the roles of nuclear genes, which are inherited from both parents. His lab has identified several novel “disease” genes using a range of gene mapping and molecular cell biology approaches. Recently, his lab has developed two mouse models of mitochondrial disease, which are being used to study the precise disease mechanisms and to trial treatment strategies.
David is the Chair of the AMDF Scientific & Medical Advisory Panel and a founding director of the AMDF.
Professor Carolyn Sue has been trained as a neurologist as well as a research scientist. She has been running Australia’s largest specialised clinic dedicated to the diagnosis, assessment and treatment of adult patients with mitochondrial disease since 1994. In 2003, she set-up Australia’s first exercise laboratory dedicated to the treatment of mitochondrial muscle disease and showed that aerobic exercise training improved muscle performance in Australian patients with mitochondrial disease. It was her vision, combined with the actions of Dr Doug Lingard, which led to the establishment of the Australian Mitochondrial Disease Foundation (AMDF) in 2009.
Professor Sue is currently appointed as Professor at the University of Sydney, the Director of the Department of Neurogenetics at Royal North Shore Hospital and the Director of the National Centre for Adult Stem Cell Research (Sydney Node). She completed her post-doctoral studies at Columbia University in New York, and returned to Australia in 2000 to establish her own research team, currently located at the Kolling Institute of Medical Research, at Royal North Shore Hospital. She has a major interest in understanding the disease processes involved in mitochondrial disorders, with an emphasis on developing new treatment options for affected patients. She is also using stem cells as a cellular model to investigate mitochondrial disease.
Carolyn is Deputy Chair of the Scientific and Medical Advisory Panel and is a founding director of the AMDF.
Dr Shanti Balasubramaniam is a Metabolic Geneticist, the first to be appointed in the state of Western Australia where she headed the Metabolic Service from 2012 to 2015. As the clinical lead of a statewide referral center, she actively participated in several clinical trials geared towards the development of new therapeutic strategies and was also involved in collaborative diagnostic research endeavours with both national and international colleagues. She was privileged to be a member of the Advisory Group for the Western Australian Rare Diseases Strategy, a strategic framework which focussed on advocating rare diseases as a public health priority and in addressing equitable access to healthcare services for the rare diseases community.
Prior to emigrating to Australia in 2011, Shanti worked as a Consultant Metabolic Physician and Clinical Geneticist at the Paediatric Institute, Kuala Lumpur Hospital, the largest national tertiary referral centre for paediatric and adult genetic, metabolic disorders. She obtained her Membership of the Royal College of Paediatrics UK in 2004 and subsequently pursued a subspecialty training in clinical genetics and metabolic medicine. She was awarded a fully funded Public Service Department of Malaysia scholarship to complete her final year of subspecialty fellowship in 2008 at The Children’s Hospital at Westmead, where she trained under Professor John Christodoulou. Shanti is currently attached to the Genetic Metabolic Disorders Service, Children’s Hospital at Westmead, Sydney.
Dr John Duley
Dr John Duley studied at Sydney and La Trobe universtities, then did post-doctorate research at Christchurch Hospital and Griffith University. In 1986 he moved to London, studying inherited diseases affecting nucleotide metabolism at the Purine Research Laboratory, Guy’s Hospital. From 1997-2002 John directed the lab and established the leading UK pharmacogenetics service. Returning to Australia from 2003, he developed a nucleotide diagnostic and research unit within Pathology at Mater Hospital, Brisbane. In 2006 he also joined the University of Queensland’s School of Pharmacy to develop his pharmacogenetic research. He holds an honorary position at the Mater Medical Research Institute.
John has published in excess of 150 papers, reviews and chapters. His research has translated into pharmacogenetic applications, diagnostic improvements and patient health. He was an invited member of the FDA Subcommittee on Thiopurine Pharmacogenetics (USA, 2004-05), and is a frequent speaker at international and national meetings. Nucleotides are essential for energy metabolism, and John’s research has led him to publish several papers on mitochondrial diseases, including the interaction of a common genetic mutation that affects surveillance of the body for ‘rogue’ nucleotides and appears to damage mitochondrial DNA.
Professor Aleksandra Filipovska
Professor Aleksandra Filipovska is an ARC Future Fellow at the Western Australian Institute for Medical Research and the University of Western Australia in Perth. She received her PhD in 2002 from the University of Otago, New Zealand. She was a NZ Foundation for Research, Science and Technology Fellow at the MRC Mitochondrial Biology Unit in Cambridge, the United Kingdom until the end of 2005. In 2006 she relocated to Australia as a NHMRC Howard Florey Fellow and established her research group in Mitochondrial Medicine and Biology at the University of Western Australia.
Aleksandra’s research efforts to date have been recognized with the award of several prizes such as the Australian Academy of Sciences Ruth Stephens Gani Medal, ANZSCDB Young Investigator award and the WA Tall Poppy Award. Aleksandra’s research focuses on studying mitochondrial gene regulation and function in health and mitochondrial disease using patient cells and mouse models of mitochondrial disease. Her group has made advances in the development of methods for studying mitochondrial gene function and developing therapeutics for inherited mitochondrial diseases.
Dr Roula Ghaoui
Dr Roula Ghaoui is an Adult Neurologist with subspecialty qualifications in neuromuscular and neurogenetic disorders. She completed her Adult Neurology training in December 2012 and was admitted as a Fellow of the Royal Australasian College of Physicians (RACP). She pursued a combined neuromuscular and neurophysiology fellowship at the Royal North Shore hospital in Sydney.
Roula was the neuromuscular fellow for Professor Carolyn Sue involved in the clinical care of patients attending the mitochondrial clinics at Royal North Shore Hospital. She completed a PhD in neurogenetics and neuromuscular disease at the Children’s hospital at Westmead and through the University of Sydney. Her PhD project focused on using new technologies such as whole exome sequencing, to establish the genetic diagnoses in previously undiagnosed myopathies and limb-girdle muscular dystrophies. Her primary clinical and research interests are in the diagnoses and treatment of muscle disorders.
Professor Christodoulou is currently Head of the Neurodevelopmental Genomics Research Group and Director of the Genetics Research Theme at Murdoch Childrens Research Institute, and Chair of Genomic Medicine in the Department of Paediatrics at Melbourne University. His formal training includes paediatrics and clinical genetics, with his major clinical focus being the investigation and management of individuals with inborn errors of metabolism including mitochondrial disorders.
He is the former President (2005-2007) of the Human Genetics Society of Australasia, and has also been a recent RCPA Examiner in Genetics.
Professor Christodoulou’s current research interests include the biology of Rett syndrome and related disorders, the molecular pathogenesis of mitochondrial respiratory chain disorders and the development of new therapies for phenylketonuria (PKU). More recently he has become very involved in the translation of cutting edge genetic testing technology into mainstream medical practice, with a particular focus on rare diseases.
He has published over 200 peer reviewed papers and is regularly called upon for lectures on a range of genetics subjects.
John is a founding director of the AMDF.
Dr Doug Lingard is a Radiologist and Nuclear Physician who has been active in both public and private medicine in Australia for over 30 years. He is a cofounder of the largest Diagnostic Imaging practice in Australia, Pittwater Radiology and Medical Imaging Australasia Ltd. He and his wife Margie are the parents of two children with mitochondrial disease.
Professor Mike Ryan is Head of the Mitochondria lab at Monash University. He has performed research into the molecular cell biology of mitochondria for over 20 years. In 1997, he was awarded an Alexander von Humboldt fellowship and worked for 3 years at the University of Freiburg in Germany. In 2000, he took up a position at La Trobe University with a postdoctoral fellowship from the Australian Research Council and then became an academic member in 2001. Over the past 10 years, Mike and his group have investigated the biochemical and cellular defects associated with mitochondrial disease and also research into the inheritance of mitochondria. Mike and his team relocated to Monash University from La Trobe University in 2014.
A/Professor Nigel Turner is head of the Mitochondrial Bioenergetics Laboratory at UNSW Australia. He completed a PhD in 2004 in comparative physiology and biochemistry at the University of Wollongong. From 2005-2012 he was in the Diabetes and Obesity Research Program at the Garvan Institute of Medical Research in Sydney, supported by a NHMRC Peter Doherty Fellowship and NMHRC Career Development Award. In 2012 he was awarded an Australian Research Council Future Fellowship and relocated his research group to UNSW.
Nigel’s research focuses on investigating factors that regulate mitochondrial function and cellular bioenergetics in healthy and diseased states. In particular his research group is seeking to understand how aberrations in cellular energy metabolism may contribute to the pathogenesis of diseases such as diabetes and cancer.