The Mito Foundation 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 Mito Foundation Board on how best to apply funds raised, and assess the merits of various applications for Mito Foundation grants.
The panel is also a point of reference for medical and research questions from the mitochondrial disease community, the media, politicians and other interested parties.
The Scientific & Medical Advisory Panel members are:
Professor Carolyn Sue AM (Chair)
MBBS, PhD, FRACP
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 Mito Foundation 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 a founding director of the Mito Foundation.
Professor Aleksandra Filipovska (Deputy Chair)
Aleksandra Filipovska is a Deputy Director of the ARC Centre of Excellence in Synthetic biology, NHMRC Senior Research Fellow and Professor at the University of Western Australia. She received her PhD in 2002 from the University of Otago, New Zealand. From 2003-2005 she was a NZ Foundation for Research, Science and Technology Fellow at the MRC Mitochondrial Biology Unit in Cambridge, the United Kingdom. In 2006 she relocated to Australia as a NHMRC Howard Florey Fellow and established her research group at the Perkins Institute of Medical Research at the University of Western Australia.
She was an Australian Research Council Future Fellow until 2014 and since 2014 she has been a NHMRC Senior Research Fellow and Professor at UWA and the Harry Perkins Institute of Medical Research and established a Mitochondrial Disease Therapy group at Telethon Kids Institute in 2019. Her research interests are in the regulation of gene expression by RNA-binding proteins and the use of multi-omic technologies to elucidate their molecular functions in health and disease. Her research group uses genomic technologies and synthetic biology to design new models of mitochondrial diseases and develop treatments for these disorders.
Dr Shanti Balasubramaniam
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 immigrating 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 Kids Research Institute at Westmead, Sydney.
Professor John Christodoulou AM
MB BS PhD FRACP FFSc(RCPA) FRCPA FHGSA FAHMS
John graduated from the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology. He undertook his formal genetic training at the Murdoch Research Institute in Melbourne, Australia, and had further postdoctoral training in genetic metabolic disorders at the Hospital for Sick Children in Toronto, Canada. He returned to Sydney and for 18 years was the Director of the Western Sydney Genetics Program at the Children’s Hospital at Westmead, one of the largest fully integrated clinical and laboratory diagnostic genetic services in Australia. He relocated to the Murdoch Children’s Research Institute (MCRI) in Melbourne in 2016, is currently the Director of the Genetics Research Theme of the MCRI, and co-leads the Brain and Mitochondrial Research Group with Professor David Thorburn. John is also the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne.
Apart from mitochondrial disorders, his other major research interests are in Rett syndrome and related neurodevelopmental disorders. He also has a major research interest in the application of next generation sequencing (NGS) technologies in rare genetic disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS diagnostics into mainstream clinical practice in Australia, and with David co-leads the Australian Genomics mitochondrial diseases flagship.
He has published over 280 peer reviewed papers and is regularly called upon for lectures on a range of genetics subjects.
John is a former Past President of the Human Genetics Society of Australasia (2005 – 2007). In 2010 he became a Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the Australian Academy of Health & Medical Sciences.
John is a founding director of the Mito Foundation and a member of the Mito Foundation Scientific & Medical Advisory Panel.
Professor David Coman
MBBS MPhil FRACP
Professor David Coman is a Metabolic Physician and Clinical Geneticist at Department of Neuroscience / Children’s Health Queensland Hospital and Health Service. He graduated from the University of Queensland in 1995. He gained wide exposure to General Paediatrics, Neonatology, Clinical Genetics and Metabolic Medicine through training positions in Brisbane, Rockhampton, Melbourne, the United Kingdom and Ireland. Under the supervision of the Royal Australasian College of Physicians, he completed his General Paediatric Training in 2005 and sub-specialty training in 2006.
David’s area of expertise is in the diagnosis and management of children with rare diseases. The diagnosis of a rare disease is often delayed because of their small numbers and complex nature. He is a passionate rare disease advocate and engages with multiple rare disease support groups.
He has an active interest in research and was awarded a Masters of Philosophy from the University of Queensland in 2007. Currently, he is involved in multiple research projects aimed at novel disease discovery, improved diagnostic testing and treatments for children with Inherited Genetic Disorders. He is the director of a national clinical-translational clinic for Ataxia Telangiectasia and an active research member of Australian Genomic Health Alliance.
Also, he is actively getting involved in the teaching of medical students and paediatric trainees. Besides being the Academic Lead for Paediatrics for the UnitingCare Clinical School, he currently holds academic appointments at The University of Queensland, Griffith University and Bond University.
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.
Dr Doug Lingard AM
MB ChB FRANZCR
Doug is a Radiologist & 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 & Medical Imaging Australasia Ltd. He and his wife Margie are the parents of two children with mitochondrial disease.
Doug is the Mito Foundation Chairman, a member of the Mito Foundation Nominations Committee and a founding director of the Mito Foundation.
Professor Mike Ryan
BSc (Hons) PhD
Mike is Deputy Dean (Research and Research Infrastructure) in the Faculty of Medicine at Monash University and heads a research laboratory on mitochondrial biogenesis and disease in the Biomedicine Discovery Institute.
On completion of his PhD in biochemistry, Mike was awarded an Alexander von Humboldt Research postdoctoral fellowship to study mitochondrial biology in Freiburg, Germany. In 2000, he joined the Department of Biochemistry at La Trobe University where he undertook research into the dynamics of mitochondria and mitochondrial disease. He subsequently became Head of Department in 2010. In 2014, Mike joined Monash University as a Professor in the Department of Biochemistry and Molecular Biology where he continues to undertake NHMRC- and ARC-funded research.
Mike received the Roche Medal for research excellence from the Australian Society for Biochemistry and Molecular Biology and was later president of the Society (2014-2016). He has been active in the scientific community as a regular NHMRC grant panel member, a Selection committee member of the Human Frontier Science Program, Founder of Aussiemit meetings, and a member of numerous conference organizing committees. He has been invited to nominate candidates for the Nobel Prize in Chemistry on multiple occasions. Mike has published over 100 papers, including in Nature and Science, and his work has received over 14,000 cites.
Professor David Thorburn
BSc(Hons) PhD FHGSA FFSc(RCPA) FAHMS
Professor David Thorburn received his PhD in Biochemistry from the University of Sydney in 1987 before completing a Fulbright Fellowship with Prof Ernie Beutler at Scripps Clinic, La Jolla (San Diego), California. David returned to Australia in 1990, and is an NHMRC Principal Research Fellow at the Murdoch Children’s Research Institute (MCRI), located in the Royal Children’s Hospital in Melbourne. He holds honorary appointments in the Department of Paediatrics, University of Melbourne and with Victorian Clinical Genetics Services. 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).
David and John Christodoulou co-lead the MCRI Brain and Mitochondrial Research Group, which 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 700 patients with mitochondrial disease and published over 200 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 over 25 novel “disease” genes using a range of genomic and cell biology approaches. His lab has developed mouse models and human stem cell models of mitochondrial disease that are being used to study the precise disease mechanisms and to trial treatment strategies.
David is a founding director of the Mito Foundation and a member of the Mito Foundation Nominations Committee and the Mito Foundation Scientific & Medical Advisory Panel.
Professor Nigel Turner
BSc (Hons) PhD
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.