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Scientific & Medical advisory committee

 


 

 

Dr Carol Wicking

CHAIR

Independent Consultant (QLD)

Dr Carol Wicking received her BSc (Hons) and MSc from the University of Melbourne and her PhD from the University of London. She has over 25 years' worth of research experience, primarily investigating the molecular and cellular basis of a number of rare diseases including cystic fibrosis, naevoid basal cell carcinoma syndrome and a class of rare diseases known as ciliopathies. Carol is a past President of the Australian and New Zealand Society for Cell and Developmental Biology and current Chair of the Board of Phenomics Australia. She is currently an independent consultant and an Honorary Associate Professor at the Institute for Molecular Bioscience at the University of Queensland. Carol is also a Director of RVA.

 


 


A Clin/Prof Gareth Baynam

Western Australian Regiser of Developmental Anomalies, GSWA, WADoH, Centres of Expertise, Phenotyping, Digital Health (WA)

Professor Gareth Baynam is a Head of the Western Australian Register of Developmental Anomalies (birth defects and cerebral palsy registers), Clinical Geneticist and Program Director of the Undiagnosed Diseases Program WA; Board Member of the Undiagnosed Diseases Network International; and Adjunct Genomics Policy Officer in the Western Australian Health Department. He is affiliated with the University of Western Australia; Curtin University, Murdoch University, Notre Dame University, Melbourne University; and Telethon Kids Institute. He is the Founder of an integrated suite of cross-sector and community engaging initiatives to improve the lives of people living with rare diseases including Project Y, Cliniface and Lyfe Languages. He Chairs and/or is one the Executive or Advisories of multiple international rare diseases initiatives and has personal connections to rare diseases.

   
   

    

 

 

Dr Kaustuv Bhattacharya 

Specialist Metabolic Physician, Queensland Lifespan Metabolic Service (NSW)

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 completing a sabbatical at Queensland Lifespan Metabolic Service in 2019. He returned to Sydney in 2020. He is a conjoint senior lecturer for Sydney University having completed a range of published therapeutic research for rare conditions. 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.

   
   
   

 

 

Prof. Alan Bittles AM

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

Prof. Alan Bittles received his PhD from Queen’s University, Belfast, ScD from Trinity College, University of Dublin, and is a Fellow of the Royal College of Pathologists. He is Emeritus Professor of Community Genetics in the School of Medical and Health Sciences, Edith Cowan University and Adjunct Professor in the Centre for Comparative Genomics, Murdoch University, Perth, Australia. His present research centres on the impact of consanguinity and genetic sub-structure on disease gene expression, haemoglobinopathies, and intellectual and developmental disability, with projects in Australia, India and the UK. Prof. Bittles was Inaugural Chair of RVA SMAC from 2015-2017 and in 2017 he was appointed a Member of the Order of Australia (AM) for services in Medical Genomics.

 

 

 

Dr Lisa Ewans 

Clinical Geneticist (NSW) 

Dr Lisa Ewans is a Clinical Geneticist at Royal Prince Alfred Hospital and Sydney Children’s Hospital and a Clinical Lecturer at The University of Sydney. She obtained her MBBS and BSc (Neuroscience) at Imperial College London before moving to Sydney to continue paediatric training, and received her Fellowship of the RACP in clinical genetics. In her practice, she sees a range of patients with rare genetic disorders of all ages, advocating for their care. She is completing a PhD in genomics applied to the diagnosis of rare genetic disorders through the Garvan Institute of Medical Research and UNSW. Her research and clinical interest is to help individuals with suspected but unsolved rare genetic disorders to find a diagnosis, and is co-leading a new undiagnosed diseases program through the Sydney Children’s Hospital Network. 

 

 

 

 

Prof Adam Jaffe

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

Professor Adam Jaffe (BSc (Hons) MBBS MD FRCP FRCPCH FRACP FThorSoc) is the John Beveridge Professor of Paediatrics and Head of the School of Women’s and Children’s Health, UNSW Medicine, 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 headed up Respiratory Medicine research at the Institute of Child Health London in 2001. Jaffe chairs the Young Lungs program of Lung Foundation Australia and is on Lung Foundation Australia’s Rare Lung Diseases Committee. He is on the medical and scientific advisory committee of Rare Voices Australia and previously Asthma Australia. He was on the Lung Foundation Australia committee writing the National Strategic Plan for Lung Conditions (2019) and a member of the National Strategic Action Plan for Rare Diseases, Rare Voices Australia. His interests lie in the areas of asthma, cystic fibrosis, childhood respiratory infections and rare ‘orphan’ lung diseases.

 

 

 

         

 

 

Dr Paul Lacaze

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

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

Director, Office of Population Health and Genomics, WA Department of Health (WA)

Dr Kristen Nowak has over 20 years’ experience as a medical researcher in the rare diseases field, focusing on finding new disease genes and evaluating potential therapies. Her office 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. Kristen is a 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 is 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

Senior Lecturer, UniSA, RDs, (SA)

Lemuel Pelentsov is Program Director for the Bachelor of Nursing (Theory), University of South Australia. 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. He has multiple publications and has presented his research at numerous national (Australian) and international conferences.

 

   
   
   
 

Professor John Rasko AO 

Director, Department of Cell and Molecular Therapies, Royal Prince Alfred Hospital and the Gene and Stem Cell Therapy Program, Centenary Institute, University of Sydney (NSW)

Professor John Rasko is an Australian pioneer in the application of adult stem cells and genetic therapy, and President (2018-20) of the International Society for Cell & Gene Therapy. He is a clinical haematologist, pathologist and scientist with an international reputation in gene and stem cell therapy, experimental haematology and molecular biology. In over 170 publications he has contributed to the understanding of stem cells and blood cell development, gene therapy technologies, cancer causation and treatment, human genetic diseases and molecular biology. John has served on a number of hospital, state and national bodies. He is the recipient of national and international awards in recognition of his commitment to excellence in medical research, including appointment as an Officer of the Order of Australia.

   
   

 

 

 

 

 

 

 

 

 

 

Prof Jeff Szer

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

Jeff Szer AM is a senior haematologist in the Clinical Haematology Department at Peter MacCallum Cancer Centre and The 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 is Past President of the Worldwide Network for Blood and Marrow Transplantation (WBMT) and is current President of the World Marrow Donor Association (WMDA). 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 the committees were disbanded in May 2014.

 

 

 

 

 

A/Prof Yvonne Zurynski 

 

BAppSc, MAppSc, MHpol, PhD (NSW)

 

Yvonne Zurynski is Associate Professor of Health System Sustainability at the Australian Institute of Health Innovation, Macquarie University and leads the Coordinating Centre of the NHMRC Partnership Centre in Health Systems Sustainability. She is Adjunct Associate Professor, University of Tasmania and Honorary Associate Professor at The University of Sydney and Curtin University, in Perth, Western Australia. As a mixed methods researcher, implementation scientist, epidemiologist, program evaluator and policy analyst, she consolidates broad knowledge and understanding of complex systems from different viewpoints. Using novel co-design approaches she has led evaluations of complex integrated care interventions for children and adults with chronic, complex, and rare disease. She was instrumental in the call for a national rare disease strategy in 2009 and contributed significantly to the Care and Support Pillar of the National Strategic Action Plan for Rare Diseases.

 

 

       
   

 

Nicole Millis

Facilitator

Chief Executive Officer, Rare Voices Australia (VIC)

A qualified social worker, Nicole has both personal and professional experience in the rare disease sector. Nicole has over 12 years’ worth of experience in rare disease advocacy, particularly in regard to access to treatments. Since 2018, Nicole has held the role of consumer nominee on the Life Saving Drugs Program Expert Panel. Under Nicole’s guidance, RVA led the collaborative development of the National Strategic Action Plan for Rare Diseases, the first nationally coordinated effort to address rare diseases in Australia. 

 
 Rare Voices Australia's Scientific & Medical Advisory Committee - Terms of Reference