Dialog Box


Scientific & Medical advisory committee




A/Prof Carol Wicking


Independent Consultant, Embryo Development, Ciliopathies, Skeletal Dysplasia (QLD) 

Associate Professor Carol Wicking has over 30 years experience in medical research, primarily 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. She is currently an independent consultant and Honorary Associate Professor in the Institute for Molecular Bioscience at the University of Queensland.


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. 



Lisa Ewans

Lisa Ewans is a Clinical Geneticist at Royal Prince Alfred Hospital, Sydney, a Clinical Associate Lecturer at The University of Sydney, and is completing a PhD at the University of New South Wales and the Garvan Institute of Medical Research. Her clinical training is in paediatric medicine and general clinical genetics, with current clinical practice across paediatric, adult, and prenatal genetics. She has expertise in genomic diagnostics for rare disease and has been working and conducting research in this field for more than 5 years.





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.






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.



Dr Kristen Nowak

Office of Population Health and Genomics, WA Department of Health

Dr Kristen Nowak is the Acting Director of the Office of Population Health Genomics (OPHG) within the Western Australian Department of Health. The OPHG has a strong focus on the translation of evidence-based genomic and screening technology into the health system, and a longstanding emphasis on improving the healthcare journey of people with rare diseases. Nationally, Kristen is the WA member for the Standing Committee on Screening, and the Project Reference Group on Health Genomics. She is also chair of the national Newborn Bloodspot Screening Program Management Committee. Kristen has over 20 years experience as a medical researcher in the rare diseases field, focussing on finding new disease genes, understanding disease pathobiology, and devising and evaluating potential therapies.  She is currently an Honorary Research Fellow at the Harry Perkins Institute of Medical Research and an Adjunct Senior Lecturer at the University of Western Australia. 















Dr Lemuel Pelentsov

Nursing, U SA, RDs, (SA)  

Lemuel Pelentsov is Program Director of the Bachelor of Nursing (Theory), University of South Australia. He previously worked as a senior clinician at the Royal Adelaide Hospital Emergency Department. Since his eldest son’s diagnosis of a rare disease in 2008, Dr Pelentsov has been a passionate nurse researcher investigating the support needs of parents and families with rare diseases. In his PhD, he developed the Parental Needs Scale for Rare Diseases (PNS-RD) – a tool which is now being used by researchers and clinicians in numerous countries. And since becoming an academic in 2010, he has multiple publications and has presented his research at numerous national (Australian) and international conferences.














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

BAppSc, MAppSc, PhD, MHPol (currently enrolled) 

Yvonne is Associate Professor, Health System Sustainability, and leads the activities of the central coordinating unit of the NHMRC Partnership Centre for Health System Sustainability, Australian Institute of Health Innovation, Macquarie University. She has a strong research, translation and policy analysis track record and interest in health services and systems research, especially in the increasing challenge of chronic and complex disease, including rare diseases. She has conducted research across health sectors and disciplines ranging from primary care to intensive care, including transition pathways from hospital to community and between paediatric and adult services. Yvonne has expertise in conducting national epidemiological studies, clinical research studies, and mixed methods studies using implementation science approaches. While establishing an evaluation team, she recently led the evaluation of a complex model of integrated care which included care coordination, e-health, and integration across the tertiary, secondary and primary care sectors. She published on patient and provider needs for improved quality of care in children with chronic/complex conditions. She has led systematic literature reviews and developed a protocol for the systematic review and synthesis of grey literature and is currently leading a study using linked health and NDIS data.






Dr Kaustuv Bhattacharya

Specialist Metabolic Physician, Queensland Lifespan Metabolic Service, South Brisbane 

Dr Kaustuv Bhattacharya is a UK trained metabolic physician. He moved to Sydney, Australia in June 2008 and became the department head of metabolic services at Sydney Children’s Hospitals Network, before moving to Brisbane in 2019 where he is now practicing as a specialist paediatric metabolic physician at Queensland Children’s Hospital. He remains affiliated to Sydney University. He has strongly advocated for rare disease therapeutic research and clinical infrastructure and will be the chairperson for the International Congress of Inborn Errors of Metabolism in Sydney in 2021.





Nicole Millis

FacilitatorRare Voices Australia

Nicole Millis is RVA’s Chief Executive Officer. 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. She has significant experience in rare disease advocacy, particularly in regards to access to treatments. Nicole has recently been appointed as the consumer nominee on the Life Saving Drugs Program Expert Panel.