Dialog Box


Scientific & Medical advisory committee




A/Prof Carol Wicking


UQ, Research Engagement, Embryo Development, Ciliopathies, Skeletal Dysplasia (QLD)

Associate Professor Carol Wicking is currently the Manager Strategic Research Engagement at the Institute for Molecular Bioscience, the University of Queensland. Prior to this position she worked for close to 30 years in medical research, investigating the genetic and mechanistic basis of a number of rare diseases including cystic fibrosis, naevoid basal cell carcinoma syndrome and a class of rare diseases known as ciliopathies.



A Clin/Prof Gareth Baynam

GSWA/DoH, Facial Analysis, Dysmorphology, Phenotyping (WA)

A/Professor Gareth Baynam is a Clinical Geneticist and Adjunct Genomics Policy Officer in the Western Australian Health Department. He is affiliated with the University of Western Australia, School of Paediatrics and Child Health; Murdoch University, Institute for Immunology and Infectious Diseases; and Telethon Kids Institute. He has personal connections to rare diseases.






Prof. Alan Bittles

Murdoch/ECU, Community Genetics, Consanguinity, Intellectual Disability (WA)


Professor Alan Bittles currently is Adjunct Professor and Research Leader in the Centre for Comparative Genomics, Murdoch University, Perth, Australia and Adjunct Professor of Community Genetics in the School of Medical Sciences, Edith Cowan University, where he was Foundation Professor of Human Biology and Director of the Centre for Human Genetics from 1993-2005.   His present research centres on haemoglobinopathies, intellectual and developmental disability, and the impact of consanguinity and genetic sub-structure on deleterious gene expression, with projects in Australia, Brazil, India, Pakistan and the UK. 



Prof Adam Jaffe

UNSW/Randwick, Respiratory Disorders, CF, Consumers, Clinicians & Clinical Trials (NHMRC) (NSW)

Professor Adam Jaffé is the John Beveridge Professor and Head of the Discipline of Paediatrics at the University of New South Wales, Associate Director of Research for Sydney Children’s Hospitals Network (Randwick) and a Paediatric Respiratory Consultant at Sydney Children’s Hospital, Randwick. Professor Jaffé was appointed as Consultant in Paediatric Research at Great Ormond Street Hospital for Children and the Institute of Child Health, London in 2001. In 2006, he returned to Sydney where he was previously a registrar at the Children’s Hospital, Westmead in 1994. Professor Jaffé currently chairs the Aiming for Asthma Improvement in Children Program, funded by NSW Department of Health and the Rare Young Lungs Programme of Lung Foundation Australia.






Prof John McNeil

Monash U/Alfred, Epidemiology & Public Health, Registries, Clinical Trials, Biobanking, Ethics & Research Governance (VIC)


John McNeil is head of the Monash University School of Public Health and Preventive Medicine based at the Alfred Hospital in Melbourne. His research background is in epidemiology & clinical pharmacology.   His department specialises in large-scale clinical trials and clinical registries, including rare disease registries. Amongst those currently managed within the School include NAIT (neonatal alloimmune thrombocytopaenia), aplastic anaemia, thrombotic thrombocytopaenic purpura, cystic fibrosis, haemoglobinopathies and rare kidney diseases. He has been a member of a series of State and Commonwealth Committees developing concepts around the governance, funding and operations of clinical registries.  He has also led the development of a Registry Science Unit within the School to improve the value of clinical registries for both quality of care improvement and research.




Prof Mark Nelson

Menzies Institute/U Tasmania, Chair of General Practice - School of Med (TAS)


Mark Nelson is Professor and Chair, Discipline of General Practice, University of Tasmania and Senior Professorial Fellow, Menzies Research Institute Tasmania, and an Adjunct Senior Associate, Department of Epidemiology and Preventive Medicine, Monash University.  He is also in general practice in Hobart, Australia and past president of the Australian Association for Academic General Practice. His research interests are around large-scale primary care prevention clinical trials. 














Mr Lemuel Pelentsov

Nursing, U SA, RDs, (SA)  


Lemuel Pelentsov is a Lecturer at the University of South Australia, School of Nursing and Midwifery.  He previously worked as a senior clinician at the Royal Adelaide Hospital Emergency Department.  His research interests focus on identifying the supportive care needs of parents of children with rare diseases.  From his doctorial research, he developed the Parental Needs Scale for Rare Diseases (PNS-RD) to improve the way health providers  identify needs, tailor support and implement services to families living with rare diseases.







Dr Paul Lacaze

U Monash U/Alfred, Genomics, Cohort Studies, Biobanking, Rare Disease Registries


Dr Paul Lacaze is a geneticist and Head of Public Health Genomics at Monash University. He conducts research into the role of genetic data in public and population health, through large-scale cohort studies, biobanks, clinical trials and registries. He leads genomics for the ASPREE study, Australia’s largest clinical trial and study of healthy ageing in >15,000 Australians, and works with the Monash Registries Science Unit in the area of rare disease registries. He conducts research into the ethical, legal and social issues associated with use of genomic information in society. He founded the Australian Non-Genetic Discrimination Working Group, a national body advocating for regulatory change around the use of genetic test results in life insurance. He is passionate about developing a National Plan and Alliance for Rare Disease Registries in Australia.











Prof Jeff Szer

U Melbourne/Royal Melbourne, Hbopathies, Bone Marrow Transplantation (VIC)


Jeff Szer AM is Professor/Director of the Department of Clinical Haematology & Bone Marrow Transplant Service at Royal Melbourne Hospital (RMH) and Director of the Western and Central Melbourne Integrated Cancer Service. He established the first adult BMT centre in Melbourne in 1984 and has clinical research interests in all areas of haematology in particular improving the outcomes of treatment for leukaemia, lymphoma and myeloma and the non-malignant conditions of Gaucher disease and paroxysmal nocturnal haemoglobinuria. He has recently been elected President-Elect of the Worldwide Network for Blood and Marrow Transplantation (WBMT). Jeff sits on a number of national and international committees and organisations involved in haematology and was a member of the Gaucher Disease Advisory Committee and chaired the PNH Disease Advisory Committee of the Life Saving Drugs Program of the Australian Department of Health and Ageing until they were disbanded in May 2014.  






A/Prof Yvonne Zurynski

U Sydney/Westmead, Public Health, Epidemiology, RDs, Infection & Immunity (NSW)


Yvonne Zurynski is the Deputy Director of the Australian Paediatric Surveillance Unit (APSU) and Associate Professor, Discipline of Paediatrics and Child Health, Sydney Medical School.  For the last 10 years she has conducted research into rare childhood diseases, an area which is often neglected.  Yvonne holds an Australian research Council Grant to study the experiences and needs of families living with rare diseases, and to assess the economic impacts of rare diseases on families and health services.  Results from this research will support health policy and the development of innovative health service models to meet the needs of families. Yvonne has published an analysis of international policy on rare diseases.  She has convened many educational workshops on rare diseases for health professionals and for families, and works closely with patient support and advocacy groups. 









A/Prof Julie McGaughran

Director, Genetic Health Queensland (QLD)


I am a clinical geneticist who qualified after training in Manchester, UK. I worked in Auckland before moving to Brisbane. I am now Director of Genetic Health Queensland which is the state-wide clinical genetics service for Queensland. My main clinical interests are dysmorphology and cardiac genetics. My current research interests include gene discovery for syndromes. I am also interested in ensuring there is a national, co-ordinated agenda for the funding and delivery of clinical genetics services. I am a past President of the HGSA and a current member of the ESHG council.         




Ms Nicole Millis

FacilitatorRare Voices Australia


Nicole Millis is a qualified social worker with a background in families, disability and program management; and previously the National Manager of MPS & Related Diseases Society Australia. Nicole has both personal and professional experience of the rare disease sector.