Fabry Australia Medical Advisory Committee

Fabry Australia's Medical Advisory Committee's purpose is;


  1. To promote and document ‘best practice’ of Fabry Disease Clinical Care. An impartial, sustainable model that practises co-ordinated, ongoing clinical care, including access to diagnostic testing, opportunities for ongoing research and access to safe, current treatments for Fabry Disease and a transitional program from paediatrics to adult care.

  2. To review the guidelines to access current Fabry Disease Treatments in Australia.

  3. To provide a forum for physicians and other professionals for collaboration, exploration and development of services for Fabry patients, their families and caregivers.

  4. To support Fabry Australia’s Fabry Patient Conference / meetings updating the Australian Fabry community of current research and clinical studies.


 See Fabry Australia Medical Advisory Committee's Terms of Reference

Current Medical Advisors

Dr Drago Bratkovic is a paediatrician, metabolic physician and clinical geneticist who received training in both metabolic medicine and clinical genetics through the Children’s Hospital at Westmead in Sydney and the Women’s and Children’s Hospital in Adelaide. 

He took on the position of Head of the Metabolic Clinic in 2008 after completing his specialist training in 2006.Dr Bratkovic’s clinical and research interests include the use of array technology in cytogenetics, enzyme replacement therapy, newborn screening and the investigation of patients with autism.

Associate Professor Charles Denaro trained at Princess Alexandra Hospital in Brisbane and University of California, San Francisco. Currently is the Director of Internal Medicine & Aged Care, Royal Brisbane & Women’s Hospital and Associate Professor of Medicine with the University of Queensland.  He has a Doctorate in Medicine in Clinical Pharmacology. A member of the Queensland Health Medicines Advisory Committee and Chair since 2002, Dr Denaro has been looking after patients with Fabry Disease for Queensland and Northern NSW since 2002, and was a member of the Fabry Disease Advisory Committee for the Life Saving Drug Program from 2004 to 2014. 

Associate Professor Carolyn Ellaway is a Clinical Associate Professor at the University of Sydney and has been working as a Pediatrician and Clinical Geneticist at the Genetic Metabolic Disorders Service, Children’s Hospital, Westmead, NSW since 2001 and Sydney Children’s Hospital, Randwick, since 2014. Carolyn is the Deputy Director of the Western Sydney Genetics Program. In her clinical role, Carolyn is responsible for the care of children with lysosomal storage disorders, including Fabry disease. Carolyn has published 67 articles in peer reviewed journals and 4 book chapters. She is a member of the Australian Society For Inborn Errors of Metabolism (ASIEM), the Society for the Study of Inborn Errors of Metabolism (SSIDEM), the Society of Inherited Metabolic Disorders (SIMD) and the American Society of Human Genetics (ASHG).

Associate Clinical Professor Kathy Nicholls MBBS, MD, FRACP, Grad Cert University teaching is a kidney specialist at The Royal Melbourne Hospital. She coordinates Fabry-related clinical care for over 100 Victorian patients, working with Dr Andrew Talbot and colleagues from other specialties. The Royal Melbourne Hospital unit has treated Fabry patients with enzyme replacement therapy since 2000, and more recently has actively participated in trials of chaperone molecule therapy.

Linked with clinical care is an ongoing departmental clinical and basic science research interest in Fabry disease. Current research interests include using stem cells to study the effects of Fabry mutations on the function of kidney and heart cells, accessing gene therapy, effects of enzyme replacement of different types, and oral therapies for Fabry disease.

Dr Michel Tchan is a clinical and metabolic geneticist looking after adults with genetic disorders. He is currently responsible for the NSW Adult Genetic Metabolic Disorders Clinic as well as the Centre of Expertise supervising enzyme replacement therapy for Fabry disease, Pompe disease and the Mucopolysaccharidoses. Dr Tchan has active research interests in clinical aspects of the lysosomal storage disorders, particularly Fabry and Pompe diseases. He is involved in a number of collaborative programmes looking into neurological function in these diseases. He also has a strong interest in neurogenetic and renal genetic disorders.

Clinical Professor Mark Thomas trained in Sydney and London. Mark worked at RPH for the last quarter of a century in all aspects of adult nephrology, with special interests in remote area dialysis for Aboriginal Australians, polycystic kidney disease, diabetic nephropathy and Fabry disease. Mark teaches allied health, nursing, under- and post-graduate medicine, and has received a UWA Professorship with Excellence in Clinical Teaching Award (and has been nominated again). Mark likes cycling, sailing, canoeing, travelling … and his home life.

Fabry Australia Committee

Megan Fookes, OAM, former Managing Director of Fabry Australia has been involved with Fabry Australia since 1999. She also served as founding Executive Director of a National Alliance for Rare Diseases in Australia; Rare Voices Australia for five years.

Her professional association with Rare Diseases stems from a very personal connection. Her late father; David Davie waited 48 years to receive a diagnosis of Fabry disease. Her parents who were very keen to learn more and helped form the patient organisation and establishing the first Fabry Clinic in Melbourne in 1994.  Megan was awarded the Medal of the Order (OAM) in 2016 for her services to the Australian rare disease community.

Sheridan Campbell (VIC)

Sheridan Campbell serves as Chair of Fabry Australia and is pleased to be involved with such a proactive group, to improve the lives of those affected by Fabry disease.   Her father Rick Butler, was the first in her family to be diagnosed with the Fabry gene and she, along with other family members, are affected.   Sheridan lives with her husband and three young boys in Northern Victoria, where she works as an osteopath.