NewbornsInSA Team
Learn about the multidisciplinary group of doctors, scientists and research staff who contribute to the NewbornsInSA research program.
Meet the NewbornsInSA Team
Principal Investigator
Associate Professor Karin Kassahn
As Clinical Scientist at SA Pathology, Associate Professor Karin Kassahn oversees the introduction of new tests into diagnostics including validation to clinical standards. Her team was the first lab in Australia to be clinically accredited for diagnostic whole exome sequencing and was awarded SA Health Award for Excellence. Karin brings extensive experience in research, bioinformatics, and clinical genomics. As Affiliate Associate Professor at The University of Adelaide she contributes to research in paediatric and reproductive genetics.
Project Manager
Lucy Anastasi
Lucy is the Project Manager for NewbornsInSA. She developed an interest in genetics during her Bachelor of Science studies, which she explored further through an Honours degree. She brings experience developing health technology assessments for the evaluation of medical technologies for public funding and worked as research assistant at Flinders University. Lucy is passionate about contributing to translational research which leads to real-world impact and is currently pursuing a Masters of Public Health which she hopes to apply to this research.
Our Clinical Leads
Dr Jovanka King
Dr King is a paediatric clinical immunologist and immunopathologist at the Women’s and Children’s Hospital and SA Pathology, and a Senior Lecturer in the Discipline of Paediatrics at the University of Adelaide. She has a special interest in the laboratory diagnosis and clinical management of children with inborn errors of immunity (IEI). She also has a long-term interest in improving and expediting diagnosis and treatment of IEI through newborn screening, and completed her PhD in this area. Expanding newborn screening programs for IEI and other conditions continues to be an active area of her ongoing research.
Dr Carol Siu
Dr Siu is the genetic pathologist and chemical pathologist for the newborn screening unit at the Women's and Children's hospital, which analyses newborns bloodspot cards from across South Australia, Tasmania, and the Northern Territory. She is experienced in bringing research into practice, where her research has translated into diagnostic services to assist the families who lost their beloved one due to sudden arrhythmic death syndrome.
Professor Christopher Barnett
Professor Chris Barnett holds dual fellowships in neonatal/perinatal medicine and clinical genetics and is the Head of the Paediatric and Reproductive Genetics Unit at the Women’s and Children’s Hospital. He is the Statewide Genomics Lead at the Commission on Excellence and Innovation in Health. He undertook his dual training at The Hospital for Sick Children in Toronto and the Women’s and Children’s Hospital in Adelaide.
Prof Barnett has research interests in prenatal genetics, fetal pathology and rare childhood diseases, and is the clinical lead of the NHMRC and MRFF funded Genomic Autopsy Study, a national and international collaborative investigating genetic causes of perinatal death.
He has over 100 publications in peer-reviewed journals including in the New England Journal of Medicine, The Lancet, Nature Genetics and Nature Medicine.
Dr Drago Bratkovic
Dr Bratkovic, clinician-scientist and Head of the Metabolic Unit at the Women’s and Children’s Hospital, has served the unit for 13 years. His research interests are the investigation and management of inborn errors of metabolism, and development of protocols for the clinical follow-up of positive newborn screening (NBS) results. He has been involved with the clinical follow-up of NBS for 19 years.
Dr Benjamin Saxon
Dr Saxon serves as the Medical Unit Head of the Michael Rice Centre for Haematology and Oncology at the Women’s and Children’s Hospital (WCH), and Medical Director of Transfusion Policy and Education at the Australian Red Cross Lifeblood. He is also a leader of the policy and education unit. He has been consultant haematologist and oncologist at WCH and a consultant haematologist at the Hospital for Sick Children, Toronto.
Dr Nicolas Smith
Dr Smith is a Clinician-Scientist, consultant paediatric Neurologist, and the Department Head of Neurology and Clinical Neurophysiology at the Women’s and Children’s Hospital. He has a research interest in the development and delivery of genetic therapies for paediatric neurodegenerative disease. He maintains ongoing laboratory and clinical research programs.
Our Laboratory Leads
Professor Hamish Scott
Professor Scott brings extensive leadership, clinical and research experience to this study. His dynamic diagnostic and academic department includes SA Pathology’s genome laboratories and facilities. The integration of basic and clinical research is facilitated by the Centre for Cancer Biology, an SA Pathology and UniSA alliance, and students from both UniSA and the University of Adelaide. He advocates for, uses and helps build national and international diagnostic and research collaborative genomic networks for patient benefit. These collaborations have advanced our understanding not only of genetic disease in diverse areas such as stillbirth and cancer predisposition, but informed fundamental developmental biology.
Khoa Lam
Khoa is currently undertaking a PhD in the field of antenatal screening and is experienced working in the newborn screening unit. He brings 12 years experience in diagnostic screening and is interested in population statistics, both being key to the project.
Dr Tomas Rozek
Dr Rozek serves as Medical Scientist at SA Pathology, concentrating on the advancement of mass spectrometry techniques. He is the Senior Medical Scientist on the NewbornsInSA research study. With a track record spanning more than 20 years, Dr Rozek has been deeply involved in the research and refinement of mass spectrometry methods. He is interested in the use of metabolomic and lipidomic methodologies in research.
Dr Alex Ashenden
Dr Ashenden is our NewbornsInSA Medical Scientist. He has a PhD in biophysics and honours in nanotechnology. He is interested in the application of metabolomics in newborn screening.
Ayesha Chowdhury
Ayesha, is a Monash University graduate with a Masters in Genome Analytics. Her passion for genomics lies in its potential to reshape our understanding of life, its power to drive scientific breakthroughs, and its capacity to positively impact society by advancing healthcare. The prospect of contributing to medical advancements that could enhance human health and facilitate disease diagnosis and treatment drives her enthusiasm and dedication to this field.
Enzo Ranieri
Our Data and Impact Leads
Dr Jennie Louise
Dr Louise is a senior biostatistician in the Women's and Children's Hospital Research Centre with the South Australian Health and Medical Research Institute (SAHMRI). She brings experience as biostatistician in the Department of Obstetrics & Gynaecology, University of Adelaide, and Manager of the Faculty’s Statistics Consulting Service. Her areas of interest and specialisation include clinical trials, bioinformatics, predictive modelling and individual participant data meta-analysis. Prior to beginning her career in biostatistics, she was an ethicist, and held positions in the Discipline of Philosophy and School of Public Health, University of Adelaide.
Professor Tracy Merlin
Prof Merlin is the Head of the School of Public Health within The University of Adelaide. She is a clinical epidemiologist and methodologist who leads an internationally known research group, Adelaide Health Technology Assessment (AHTA). This work advises the Australian Government on public funding decisions for new tests, medicines and medical services, based on assessments of their safety, effectiveness, and cost-effectiveness. She has evaluated a number of screening programs for the Australian Government, including lung cancer screening, antenatal screening, and neonatal hearing screening.
In memory of Dr Emilie Mas, Chief Investigator of NewbornsInSA, and former Head of the Mass Spectrometry Unit and Neonatal Screening Laboratory at SA Pathology, Women’s and Children's Hospital
Emilie contributed invaluable experience and expertise to the NewbornsInSA research study and the newborn screening program in South Australia. She is dearly missed by the team.