Medical Advisory Committee
Fabry Australia Medical Advisory Committee
Fabry Australia’s Medical Advisory Committee’s purpose is;
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 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. In her clinical role, Carolyn is responsible for the care of children with lysosomal storage disorders, including Fabry disease. She treats paediatric Fabry patients with enzyme replacement therapy and Migalastat. Carolyn has participates in a number of clinical trials and has published almost 100 articles in peer reviewed journals and 4 book chapters. Carolyn also has a private genetic clinic in Sydney and works with IVF Australia. She is a member of the Australian Society For Inborn Errors of Metabolism (ASIEM), the Society of Inherited Metabolic Disorders (SIMD) and the American Society of Human Genetics (ASHG).
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 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 Elizabeth Centra, Donna North and other colleagues. 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 and substrate reduction therapies.
Linked with clinical care is an ongoing clinical and basic science research interests 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, access programs for gene therapies, 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.