Medical team

Professor Martin Delatycki

Martin is the Clinical Director of the Victorian Clinical Genetics Services and co-Director of the Bruce Lefroy Centre at the Murdoch Childrens Research Institute. Martin studied medicine at University of Melbourne and trained in paediatrics at the Royal Children’s Hospital. He subsequently trained in clinical genetics at the Victorian Clinical Genetics Services and then obtained his PhD for work on Friedreich ataxia through the Murdoch Childrens Research Institute. His research and clinical interests are neurogenetics and community genetics. Martin has over 250 publications and has obtained over $5 million in research funding.

Associate Professor Sue White

Sue is the Deputy Clinical Director of the Victorian Clinical Genetics Services (VCGS) and is a clinical geneticist with a clinical and research interest in syndromes of childhood. Sue works with families trying to reach answers for their child’s suspected genetic problems. Alongside the VCGS laboratory team, Sue has led the implementation of exome sequencing at The Royal Children’s Hospital.

Professor John Christodoulou AM

John has trained in paediatrics, medical genetics and genetic pathology. In January 2016 he relocated from Sydney, and took up the inaugural Chair of Genomic Medicine at the Murdoch Childrens Research Institute and the University of Melbourne. He has active laboratory-based research programs in Rett syndrome, phenylketonuria (PKU) and the mitochondrial respiratory chain disorders. A major research focus is the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders.

John is a former President of the Human Genetics Society of Australasia (2005-2007), and member of the Human Genetics Advisory Committee (2009-2015). In 2010 he became a Member of the General Division of the Order of Australia (AM) for service to human genetics, particularly the metabolic disorders of children, as a researcher and clinician.

Professor Ravi Savarirayan

Ravi is a consultant clinical geneticist at the Victorian Clinical Genetics Services, as well as Professor and Research Group Leader (Skeletal Biology and Disease) at the Murdoch Childrens Research Institute. Ravi received his MBBS from the University of Adelaide in 1990 and became a fellow of the Royal Australasian College of Physicians in 1997. He was certified as a specialist in clinical genetics from the Human Genetics Society of Australasia in 1998 and received his Doctor of Medicine from the University of Melbourne in 2004, for his thesis “Clinical and molecular studies in the osteochondrodysplasias.”

Ravi is a founding member of the Skeletal Dysplasia Management Consortium and has been the Chair of the Specialist Advisory Committee in Clinical Genetics, Royal Australasian College of Physicians since 2009. He was president of the International Skeletal Dysplasia Society from 2009 to 2011 and has been an invited member of several International Working Committees on Constitutional Diseases of Bone. Ravi's primary research focus is on inherited disorders of the skeleton causing short stature, arthritis and osteoporosis. He has published over 150 peer-reviewed articles, collaborating with peers from over 30 countries, and is on the editorial board of Human Mutation, European Journal of Human Genetics, American Journal of Medical Genetics and Journal of Medical Genetics.

Associate Professor Tiong Tan

Tiong is a clinical geneticist with a PhD in developmental biology. He sees children and families affected by genetic conditions and has particular interests in craniofacial disorders, genodermatoses, and genomics for gene discovery research and clinical diagnostics. As a clinician-scientist, his research focuses on understanding the cause of rare conditions in order to help affected patients.

Dr Alison Yeung

Alison is a clinical geneticist at the Victorian Clinical Genetics Services. She completed her combined training in paediatrics and clinical genetics in 2007, followed by a clinical genetics and metabolics fellowship at the Hospital for Sick Kids, Toronto. She currently runs a number of prenatal and paediatric genetics clinics at the Royal Children's Hospital and Monash Medical Centre, as well as outreach genetics in regional Victoria. Dr Yeung's clinical interests include clinical dysmorphology, prenatal genetics, and ocular genetics. A more recent research focus has been the translation of new genetic testing technologies into clinical care.

Dr George McGillivray

George is a clinical geneticist and leading prenatal geneticist from Melbourne, Australia. He has 15 years experience working at the Royal Women’s Hospital and the Mercy Hospital. George runs a neurogenetics clinic at the Royal Children’s Hospital and a fetal neurology clinic at the Mercy. His research collaborations include the genetics of brain disorders and accelerated gene identification programs at the Murdoch Childrens Research Institute.

George provides clinical liaison for the Victorian Clinical Genetics Services Pathology providing prenatal microarray and cell-free DNA testing. His publications cover prenatal diagnosis, ethics, gene discovery and neurogenetics. He is an author of guidelines for the Royal Australasian College of Obstetricians and Gynaecologists and the International Society of Ultrasound in Obstetrics and Gynecology.

Dr Zornitza Stark

Zornitza completed her medical studies, including an intercalated science degree with first class honours, at the University of Oxford, UK. This was followed by basic paediatric training at the Royal Children’s Hospital in Melbourne and advanced training in clinical genetics at the Victorian Clinical Genetics Services (VCGS). She was appointed as a consultant at VCGS in 2011. Her main areas of practice are reproductive and paediatric genetics, with a special interest in the clinical application of genomic testing technologies for the diagnosis of rare genetic conditions.

Ivan Macciocca

Ivan is a certified genetic counsellor with more than 15 years experience in a range of genetic counselling roles. His current role as Principal Genetic Counsellor at the Victorian Clinical Genetics Services (VCGS) includes clinical, management and strategic planning responsibilities. Ivan has played an integral role in the establishment of new clinical genetics services, especially in regional Victoria and in the field of cardiac genetics. He also contributed to the establishment of the next-generation sequencing test for inherited heart conditions offered by the VCGS and completed a Masters thesis on the impact of genetic testing for these conditions. He was seconded to Melbourne Genomics Health Alliance as clinical project manager for 2 years and is the incoming chairperson of the Australasian Society of Genetic Counsellors.

Dr Alison Archibald

Alison is an Associate Genetic Counsellor at the Victorian Clinical Genetics Services (VCGS). She is the team leader for genetic counselling for the VCGS screening programs: non-invasive prenatal testing, maternal serum screening and reproductive genetic carrier screening (for cystic fibrosis, fragile X syndrome and spinal muscular atrophy). Alison completed her genetic counselling training at the University of Melbourne before undertaking a PhD, also at the University of Melbourne. Alison's PhD research involved exploring attitudes to carrier screening for fragile X syndrome. She has worked in both research and clinical roles. Her current role involves: providing genetic counselling for people undergoing pre or early pregnancy screening through VCGS; working collaboratively with the laboratory teams to ensure effective service delivery of the screening programs; and research, education and training regarding these screening programs.

Jane Wallace

After many years working in laboratories, 15 of which were spent in haematology at the Royal Children's Hospital in Melbourne, Jane completed a Graduate Diploma in Genetic Counselling in 2002. She worked in genetics education at the Murdoch Childrens Research Institute prior to starting a clinical role at the Victorian Clinical Genetics Services. Jane has worked in the regional genetics service since 2004, and has been manager since 2010. She is one of a small remaining group of generalists in Genetic Counselling as country clinics involve working with a broad range of paediatric and adult onset conditions.

Lisette Curnow

After completing a science degree, Lisette undertook the Graduate Diploma in Genetic Counselling followed by a Masters of Health Science (Genetic Counselling). She spent a year working in Toronto at the Hospital for Sick Children and Wellesley Hospital in research and genetic counselling, then returned to take up positions at the Victorian Clinical Genetics Services (VCGS) and Peter MacCallum Cancer Institute. In 2001, she began full time work at VCGS, and has been here ever since. Her work now primarily involves paediatric oncology, newborn screening and predictive testing for adult-onset neurodegenerative conditions such as Huntington Disease, as well as providing general genetic counselling to the Royal Children's Hospital genetics clinic.

Laboratory team

Dr Damien Bruno

Damien’s primary research interest is in the development and application of genomic technologies into clinical practice. Damien gained his PhD at the Cytogenetics Unit in the Murdoch Childrens Research Institute. There he shed light on the genetic causes of intellectual impairment revealed by genomic microarray analysis. He is currently the Laboratory Director at the Victorian Clinical Genetics Services (VCGS) and has authored over 35 articles in the field of translational genomics. Damien and his team are interested in new methods for non-invasive diagnostics and have ongoing studies pursuing applications in pregnancy, transplantation and cancer.

As Director of the VCGS Laboratories, Damien has been active in modernising the practice of laboratory genetics and is passionate about training of laboratory professionals. Damien was awarded the Ed Krumins Young Scientist Award (ASoC) in 2009 and is a Foundation Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia. Damien was the immediate past HGSA representative on the RCPA Genetics Advisory Committee and the Steering Committee of the International Standards for Cytogenomic Arrays (ISCA) Consortium. Damien is also a member of the Faculty of Science (RCPA) Committee, which has a remit to train and develop a career path for senior scientists working within the field of Pathology.

Dr Mark Pertile

Mark is a senior medical scientist who specialises in reproductive cytogenetics and genomics. He is currently the Deputy Laboratory Director at the Victorian Clinical Genetics Services (VCGS) and heads the Division of Reproductive Genetics, which incorporates the non-invasive prenatal testing (NIPT), maternal serum screening (MSS) and reproductive genetic carrier screening (RGCS) services. He also heads the NIPT Laboratory. Mark received his PhD from the University of Melbourne for research into centromere biology and evolution undertaken in the Chromosome Research Laboratory at the Murdoch Childrens Research Institute. He obtained his FHGSA in 1990 while Head of Cytogenetics at the Royal Women’s Hospital, Melbourne. Mark has a long standing interest in early human embryology and development. He works with a team that applies molecular cytogenetics and genomics technologies to help identify the causes and origins of genomic conditions early in pregnancy.

Professor David Thorburn

David leads the Genetics Research Theme at the Murdoch Childrens Research Institute and the MCRI/VCGS Mitochondrial Laboratory. He is an NHMRC Principal Research Fellow and a Fellow of the Human Genetics Society of Australasia and the RCPA Faculty of Science. David’s group has defined many of the methods used internationally for enzyme diagnosis of mitochondrial respiratory chain defects as well as the most widely used diagnostic criteria. His group has diagnosed over 600 children with respiratory chain defects. Through diagnostic and research studies, they have identified causative mutations in over 330 of these patients in a total of over 60 different genes. David has been a leader in the application of massively parallel sequencing to diagnosis of complex groups of inherited diseases and these studies have identified over 20 novel disease genes.

Dr Desiree Du Sart

Desiree is the Laboratory Head of Molecular Genetics at the Victorian Clinical Genetics Services, one of the largest clinical laboratories for inherited disorders in Australasia. This laboratory provides state-wide and national services in Australasia in paediatric, adult and prenatal genetics for inherited disorders.

Desiree was awarded the Victorian Premier's Commendation Prize for achievement in Medical Research in 1998 for her PhD work, and Victoria's Young Tall Poppies award from the Australian Institute of Political Science in 1999. Desiree actively advocates for clinical molecular genetics within Australasia through roles within the Human Genetics Society of Australasia and the RCPA Molecular QAP, and internationally through roles within the European Quality Network and the Human Variome Project. Desiree's research interests include inherited cardiac disorders, inherited risk for colon cancer and translation of molecular genetic technology into clinical practice for patients and families.

Dr James Pitt

James is a Biochemical Geneticist with over 30 years of experience in the field. He is Head of the Victorian Clinical Genetics Services Newborn Screening and Metabolic Screening Laboratories. These laboratories perform biochemical screening of all Victorian newborns and older children with clinical indications of an inborn error of metabolism. The laboratories are also a referral centre for Australia and South East Asia for several specialised tests. James’ research interests focus on using mass spectrometric and chromatographic techniques to discover new genetic disorders, identify new biomarkers and improve diagnostic techniques for inborn errors of metabolism.

Dr Sebastian Lunke

Sebastian undertook his PhD at the BakerIDI Heart and Diabetes Institute in Melbourne before joining the Centre for Translational Pathology (CTP) at the University of Melbourne as a postdoctoral research fellow under Professor Paul Waring and Professor Graham Taylor in 2012. In March 2014, he became the Senior Scientist of the Molecular Diagnostic Laboratory at CTP and joined the RCPA Faculty of Science as the first trainee fellow. Since January 2016, Sebastian has been the Head of the Translational Genomics Unit at the Victorian Clinical Genetics Services, where he continues to lead the translation of novel technologies into clinical practise.

Dr Simon Sadedin

Simon has over 20 years of diverse software engineering experience spanning telecommunications, logistics and healthcare in both the USA and Australia. In 2011 he joined the Murdoch Childrens Research Institute and the Victorian Clinical Genetics Services (VCGS) to develop the computational analysis pipelines necessary to translate clinical sequencing at the institute to high throughput methods. In 2016 Simon completed a PhD in Bioinformatics under the supervision of Dr Alicia Oshlack and now leads the Clinical Bioinformatics group within VCGS.

Leonard Bonacquisto

Leo is head of the Maternal Serum Screening (MSS) Laboratory at the Victorian Clinical Genetics Services (VCGS). In 1986, he was a Medical Scientist in the Newborn Screening Laboratory at Mont Park Hospital, Bundoora. In 1991 the Newborn Screening Laboratory was relocated to VCGS in Parkville. 1996 saw the introduction of Maternal Serum Screening for Down syndrome in Victoria. This laboratory has grown to service the state of Victoria and has screened up to 75% of the pregnant women in the state.

In his 25 years association with the Newborn and Maternal screening services at VCGS, advances in computerisation and automation have led to efficiencies of testing, reporting and overall enhancement of the quality of processes involved in providing population screening to Victorians.

Trent Burgess

Trent is a senior scientist who has worked within the Victorian Clinical Genetics Services for over 20 years. His primary role has been in the provision of diagnostic testing in the paediatric setting. A highlight has been the introduction of microarray based protocols into the diagnostic paediatric setting and the use of saliva based collection methodologies for DNA based testing (both firsts in Australasia). Trent received his FHGSA in Cytogenetics in 2005 and is actively involved in education in the field and is an honorary fellow in the department of Paediatrics at the University of Melbourne. Trent now holds the position of Business Development Manager within the Victorian Clinical Genetics Services and the Murdoch Childrens Research Institute.