Speakers

The Hon. Greg Hunt MP
Federal Minister for Health & Aged Care

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Greg was elected as the Federal Member for Flinders in 2001, and became Parliamentary Secretary to the Minister for the Environment and Heritage and then Parliamentary Secretary to the Minister for Foreign Affairs as a young MP in the Howard Government.
In January 2017, Greg was appointed Minister for Health and Sport. In May 2019, Greg was appointed Minister for Health and Minister Assisting the Prime Minister for the Public Service and Cabinet.
Greg is incredibly passionate about the health portfolio and his vision is to ensure that Australia has the best health care system in the world.
Greg is guaranteeing Australians’ access to health services and affordable medicines with the establishment of the Medicare Guarantee Fund to secure the ongoing funding of Medicare and the Pharmaceutical Benefits Scheme.

Dr Laurence A Bindoff
MD, PhD
Professor & Consultant Neurologist, Mitochondrial Medicine & Neurogenetics, University of Bergen

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Laurence Bindoff has a science (Biochemistry & Genetics) and medical training (specialising in Neurology) from the University of Newcastle, UK. He moved to Bergen in 1997, and took up a position as Professor in Neurology, Department of Clinical Medicine, University of Bergen, in 2001. As a neurological scientist, Laurence Bindoff has specialised in neurological genetics with special focus on mitochondrial diseases receiving his doctorate in mitochondrial disease from the University of Newcastle (Title: Defects of mitochondrial oxidations) with commendation.

His clinical activities focus on a specialised neuromuscular/neurogenetic service that sees patients with all types of inherited neurological disease albeit with particular focus on mitochondrial & muscle disease. He leads a research group of 5 including both PhD and post-doctoral fellows.

His main research focus is the investigation of mechanisms involved in mitochondrial disease. This includes identifying and studying mutations of the mitochondrial genome (mtDNA) and nuclear genes that cause mitochondrial dysfunction. One major focus of research at present is the diseases caused by POLG mutations, and this includes both patient based studies and the generation of a mouse model. In addition, his team are studying mechanisms involved in ISCU myopathy and the processing of mitochondrial tRNA. Collaboration occurs locally with Medical Genetics & Molecular Medicine and internationally with groups in Italy, UK, and Finland.

Professor John Christodoulou
AM MB BS PhD FRACP FFSc(RCPA) FRCPA FAHMS
Murdoch Children’s Research Institute and Department of Paediatrics, University of Melbourne

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John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, the Co-Leader of the Brain and Mitochondrial Research Group, and Director of the Genetics Research Theme, at the Murdoch Children’s Research Institute in Melbourne, Australia. He graduated from the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology.

His research interests include Rett syndrome and mitochondrial disorders, and he has a major research interest in the application of next generation sequencing (NGS) technologies in rare genetic disorders. He is the Co-Lead of the Australian Genomics Health Alliance, focusing on bringing NGS diagnostics into mainstream clinical practice in Australia.

John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the Australian Academy of Health & Medical Sciences.

Professor Ian E. Alexander
BMedSci, MBBS (Hons), PhD, FRACP (paeds), HGSACG, FAHMS
Professor in Paediatrics and Molecular Medicine

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Professor Alexander is head of the Gene Therapy Research Unit, a joint initiative of Sydney Children’s Hospitals Network and Children’s Medical Research Institute in Sydney. Within the hospital he also holds appointments as a senior staff specialist and Director of laboratory research. His training and day-to-day activities in both clinical medicine and laboratory research reflect his interest in translating research progress into improved health outcomes for children. After finishing specialty training in paediatrics he obtained a PhD in Molecular Biology from the Garvan Institute in Sydney before completing clinical genetics training at the Murdoch Institute in Melbourne. He then undertook postdoctoral studies at the Fred Hutchinson Cancer Research Center in Seattle, returning to Australia to take up his current position. His specific expertise and interests include virus-mediated gene transfer with a focus on metabolic liver disease and primary immunodeficiencies. He is currently Associate Editor for Human Gene Therapy and The Journal of Gene Medicine and an Editorial Board Member for Molecular Therapy – Methods & Clinical Development. He is as a Fellow of the Australian Academy of Health and Medical Sciences and a Visiting Professor at University College London. In 2017 he was appointed as Co-Chair, NSW Health Genomics Steering Committee and in 2018 appointed as a member of the NSW Health New Technology and Specialised Services (NTASS) Committee and Commonwealth Health Genomic Screening Working Group of the Standing Committee on Screening.

Susan A. Berry
MD
Professor, Department of Pediatrics, University of Minnesota

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Susan A. Berry, M.D. is Professor of Pediatrics at the University of Minnesota. She is a member of the Division of Genetics and Metabolism in the Department of Pediatrics. She is a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics and Genomics. She is President-elect for the Society for Inherited Metabolic Disorders and Co-Chair of the Steering Committee for the Newborn Screening Translational Research Network. She is a member of the Board of Directors for the National PKU Alliance and current PI of the PKU Patient Registry. Like many genetics professionals, she sees adults and children with heritable conditions of all kinds. She has a particular interest in providing management for persons with inborn errors of metabolism and has a longstanding interest in improvement in their care through early diagnosis and treatment.

Professor Henri Gerrit (Han) Brunner
MD, PhD
Professor of Human Genetics at Radboud University Nijmegen Medical Center, and Maastricht University Medical Center

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Han Brunner is full professor and head of the department of Human Genetics at Nijmegen University Hospital, and  at Maastricht University Medical Center, in the Netherlands.

Han Brunner discovered a large number of disease genes, by applying cutting- technologies (genomic microarrays, exome sequencing, and whole genome sequencing) to understand genetic diseases. Much of this work is on neurodevelopmental conditions such as intellectual disability and abnormal behaviour. His work has established  that in non-consanguineous populations, the  major cause of intellectual disability lies in spontaneous new mutations. Han Brunner received a number of international awards for his work in translating novel research findings into patient diagnosis and care. He is an elected member of the Academia Europea and of the Royal Netherlands Academy of Arts and Science.

Associate Professor Curtis R. Coughlin II
PhD, MS, MBE
Certified Genetic Counselor | Healthcare Ethics Consultant – Certified, Department of Pediatrics and Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus

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Curtis R. Coughlin II, PhD, MS, MBE is an Associate Professor of Pediatrics and Bioethics at the University of Colorado Anschutz Medical Campus. He completed his ethics training at the University of Pennsylvania and is certified as a Healthcare Ethics Consultant (HEC-C). He is co-leader of the ethics consult service at the Children’s Hospital Colorado and serves on the Consent and Disclosure Recommendation (CADRe) committee for the Clinical Genome Resource (ClinGen). His ethics research evaluates service delivery models that improve access to genetic testing while supporting patient decision-making. Dr. Coughlin also trained under Distinguished Professor Stephen Goodman at the University of Colorado and his research laboratory focuses on organic acidurias and disorders of vitamin B6 metabolism.

Dr Terry G. J. Derks
MD, PhD
Pediatrician Consultant Metabolic Medicine
Principial Investigator

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Terry Derks graduated and received his MD degree with honors at the Radboudumc Nijmegen in 2001. He earned his PhD at the University of Groningen in 2007 (thesis title “MCAD deficiency: clinical and laboratory studies”). After finishing specialty training in pediatrics (2006-2010), he completed his metabolic fellowship at UMCG, Hospital de Clínicas de Porto Alegre, Brazil (2011-2012), and Glycogen Storage Disease Program, University of Florida (May 2013). He has been certified as consultant pediatric metabolic diseases and appointed as associate professor at UMCG, University of Groningen, the Netherlands. He developed a special interest in liver glycogen storage diseases, disorders of mitochondrial fatty acid oxidation, and population neonatal screening. During the IGSD2017 conference in Groningen, he initiated the International Priority Setting Partnership, to establish a research agenda for patients with liver GSD. To develop innovative treatments, he leads several investigator-initiated studies and collaborates in international clinical trials.

Dr David Dimmock MD FACMG DABP
Senior Medical Director, Rady Children’s Institute for Genomic Medicine

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Dr David Dimmock is an expert in the field of clinical genomic medicine and is passionate about improving the standard of care for children and adults with inborn errors of metabolism. Over 20 years of clinical experience, his medical practice has become focused on the identification of rare disorders through newborn screening and advanced genomic techniques. He is especially recognised for bringing innovative diagnostic testing strategies into the clinic.

Dr Dimmock has a special interest in improving the diagnosis of mitochondrial and single gene disorders that affect the liver and has published scientific articles on improved diagnostic testing for these disorders and on small molecule and gene therapy approaches.

After graduating from St George’s Hospital Medical School (University of London) in 1998, Dr Dimmock undertook internships in general adult medical training (Internal Medicine and Surgery) before training in paediatrics in the UK. With a focus on adult and paediatric metabolic diseases, he began a paediatric residency programme in Phoenix, Arizona. He then undertook Genetics and Clinical Metabolic Genetics fellowship training at Baylor College of Medicine (BCM) in Houston, Texas. After a faculty appointment at BCM he moved on to the Medical College of Wisconsin becoming an Associate Professor of Pediatrics and the Chair of the State of Wisconsin newborn screening metabolic disease subcommittee. in June 2016 started his current post as the medical director of the newly formed Rady Children’s Institute for Genomic Medicine. He has been an invited advisor to the FDA, CDC and the Institute of Medicine. In addition to substantive NIH grants, he has been the Principal investigator on more than 20 clinical trials of novel therapeutics in rare metabolic diseases.

Dr William A. Gahl
MD, PhD
Senior Investigator, Medical Genetics Branch, Director National Human Genome Research Institute

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Dr. William A. Gahl graduated from the Massachusetts Institute of Technology in 1972 and earned his M.D. and Ph.D. from the University of Wisconsin. He served as pediatric resident and chief resident at the University of Wisconsin hospitals and completed clinical genetics and clinical biochemical genetics fellowships at the NIH. Dr. Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis. Gahl has published more than 480 peer-reviewed papers and trained 42 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, and numerous other awards. In 2018, he was elected to the National Academy of Medicine.

Professor Bart Ghesquière
PhD
Expert Technologist, Head of Metabolomics Core Facility, VIB Center for Cancer Biology, Kuleuven Belgium

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Prof B Ghesquière is an expert technologist heading the VIB – KU Leuven Metabolomics Expertise Center since 2014. B Ghesquière was trained as a biotechnologist at the University of Ghent and worked with Prof J Vandekerckhove and Professor K Gevaert on the development of chromatographic technologies linked to state-of-the-art mass spectrometry for the study of protein modifications linked to oxidative stress and protein N-glycosylation for his PhD and postdoc until 2010. In 2011, he joined the team of Prof Rod Levine (NIH, NHLBI, Bethesda, US) to apply his technologies for the quantification of methionine oxidation onto heart ischemia. For his work at NIH, he received the Orloff Science award. In 2012, Prof Peter Carmeliet recruited him to apply his mass spectrometry knowhow to understand how endothelial cells change their metabolism during angiogenesis. Today his team focuses on the development of new technologies in the field of tracer metabolomics.

Associate Professor Steven Gray
PhD
Department of Pediatrics, University of Texas Southwestern Medical Center

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Dr. Steven Gray earned his Ph.D. in molecular biology from Vanderbilt University in 2006, after receiving a B.S. degree with honors from Auburn University. He performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at UNC Chapel Hill.  He is currently an Associate Professor in the Department of Pediatrics at the University of Texas Southwestern Medical Center (UTSW).  Dr. Gray is the director of the UTSW Viral Vector Facility and maintains affiliations with the Departments of Molecular Biology, the Department of Neurology and Neurotherapeutics, the Eugene McDermott Center for Human Growth and Development, and the Hamon Center for Regenerative Science and Medicine at UTSW.  His expertise is in AAV gene therapy vector engineering, specifically for gene delivery to the nervous system.  His research focus includes development of gene therapy treatments for Rett Syndrome, Giant Axonal Neuropathy, Tay-Sachs, Sandhoff, Krabbe, AGU, Charcot-Marie-Tooth, Batten, and Austin diseases.   

Professor Edwin Kirk
MB BS PhD FRACP FRCPA FFSc(RCPA)
Clinical Geneticist, Sydney Children’s Hospital | Genetic Pathologist, New South Wales Health Pathology Randwick Genomic Laboratory

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Edwin Kirk is a clinical geneticist at Sydney Children’s Hospital and genetic pathologist at the New South Wales Health Pathology Randwick Genomic Laboratory. He has a longstanding interest in inborn errors of metabolism. His major research focus at present is reproductive genetic carrier screening; he is co-lead of the $20 million Australian-government funded project, the Australian Reproductive Genetic Carrier Screening Project, also known as Mackenzie’s Mission. He is also the author of a popular science book about genetics, titled The Genes That Make Us in Australia and New Zealand and The Boy Who Wasn’t Short in the rest of the English speaking world.

Professor Dr Stefan Kölker
MD
Professor in Translational Metabolic Medicine and Child Neurology, Head of the Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg

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Prof. Dr. Stefan Kölker, MD, is Full Professor in Translational Metabolic Medicine and Child Neurology and Head of the Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Germany. He graduated in Medicine (1998) at the University of Marburg, Germany, qualified in Pediatrics (2006), and later on subspecialized in Pediatric Metabolic Medicine (2007) and Child Neurology (2015) at the University Hospital Heidelberg. In addition to his clinical and diagnostic expertise, he has a long-standing experience in translational research focusing on intoxication type metabolic diseases. He receives grants from the European Union, German Research Community (DFG), Ministry of Education and Science (BMBF), private foundations, and industry. He is member of various national and international societies for IMD. He is coordinator of the EU-funded projects “European registry and network for intoxication type diseases (E-IMD)” and “Unified Registry for Inherited Metabolic Diseases (U-IMD), and vice coordinator of the European Reference Network for Hereditary Metabolic Disorders (MetabERN). He is member of many national and international scientific societies such as the SSIEM and SIMD. He has published more than 250 PubMed-listed scientific articles.

Professor Shigeo Kure
MD, PhD
Professor, Department of Pediatrics, Tohoku University School of Medicine

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Shigeo Kure is a professor, Department of Pediatrics, Tohoku University School of Medicine, Japan. He also serves as a deputy director of Tohoku Medical Megabank Organization (ToMMo), which have established and follows a biggest genome cohort in Japan with 150,000 participants in Sendai city. He is a pediatric geneticist, and have identified many disease-casing genes, nonketotic hyperglycinemia, hereditary galactocemia type IV, steroid-dependent nephrotic syndrome and Moyamoya disease. In 1999, he proposed a new disease entity of tetrahydrobiopterin-responsive PKU, providing a therapeutic basis of the first drug therapy for PKU. For his research, he received the Grand Prize from Japanese Society of Inherited Metabolic Disease in 2010, and the Commendation for Science and Technology from the Minister of Education, Culture, Sports, Science and Technology in 2014.

Nicole Millis
Chief Executive Officer, Rare Voices Australia (RVA)

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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 regarding 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.

Professor Eva Morava
MD, PhD
Professor of Medical Genetics, Mayo Clinic School of Medicine

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Dr Morava did her specialty trainings in Europe and also in the US, as pediatrician, geneticist and metabolic specialist. Her major clinical expertise is inborn errors of metabolism (IEM). She has decades of experience in the diagnostics, follow-up and treatment in IEM, especially in mitochondrial disorders and congenital disorders of glycosylation. She is actively involved in developing novel therapies in genetic disorders. Currently she focusses on clinical trials in IEM. She is also the main PI of the multicenter study on the Natural history of congenital disorders of glycosylation. She is the Editor in Chief of the Journal of Inherited Metabolic Disease. This journal has the mission to publish on the most current topics, clinical findings and research in inborn errors of metabolism, and share the knowledge with colleagues and scientists. Dr Morava has a research laboratory, focusing on translational research in mitochondrial disorders and congenital disorders of glycosylation. She is working in close collaboration with the UMDF and CDG-CARE, where she is an advisory board member. She is passionate about education, especially patient education.

Professor David R. Thorburn
PhD FHGSA FFSc(RCPA) FAHMS
Group Leader, Murdoch Children’s Research Institute

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David Thorburn is co-Group Leader of Brain & Mitochondrial Research at the Murdoch Children’s Research Institute and an Honorary Professorial Fellow in the University of Melbourne Department of Paediatrics. His laboratory has acted as the Australasian referral centre for children suspected of mitochondrial disease for over 25 years. His research contributions include translating knowledge of mitochondrial DNA genetics into reproductive options for families, defining diagnostic criteria & epidemiology and using genomic and multi-omics strategies to identify the genetic basis of nuclear and mitochondrial DNA diseases, including 25 novel disease genes. His laboratory also uses human stem cell models of mitochondrial disease to understand pathogenic mechanisms and for pre-clinical treatment studies. His expertise has been recognised by Fellowships of the Human Genetics Society of Australasia, the Faculty of Science of the Royal College of Pathologists of Australasia and the Australian Academy of Health & Medical Sciences.

Dr Charles P. Venditti, M.D., Ph.D.
Senior Investigator, National Human Genome Research Institute | Director, Organic Acid Research Section, National Institutes of Health

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Dr. Charles P. Venditti, M.D., Ph.D., is a Senior Investigator in the National Human Genome Research Institute and the Director of the Organic Acid Research Section at the National Institutes of Health in Bethesda, MD. As a clinical biochemical geneticist and laboratorian, he has developed a translational research program to study the natural history and clinical phenotype(s) of the hereditary methylmalonic acidemias (MMA), cobalamin metabolic disorders, and propionic acidemia (PA). His research group is developing gene, cell and small molecules therapeutics to treat MMA and PA. Dr Venditti has received a number of national and international awards, including a Presidential Early Career Award for Scientists and Engineers (PECASE), the US Government’s highest honor for early-career scientists, and is an elected member of the American Society of Clinical Investigation (ASCI). He has authored and co-authored more than 130 peer reviewed research articles, reviews, and textbook chapters and is a named inventor on numerous US patents.

Associate Professor Veronica Wiley PhD, FHGSA, FFSc(RCPA)
Director/ Principal Scientist, NSW Newborn Screening Programme, The Children’s Hospital at Westmead, Sydney Children’s Hospital Network

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Clinical Associate Professor Veronica Wiley is the Director of the NSW Newborn Screening Programme, Australia. She is a clinical scientist with over 40 years of experience in paediatric biochemistry especially screening, detection, diagnosis and monitoring of inborn errors using techniques including immunoassay, mass spectrometry, enzyme assays and various DNA variant analyses.

A/Prof Wiley is President of the Australasian Society for Inborn Errors of Metabolism and past-President of the International Society for Neonatal Screening. She is a member of various international, national, and state committees developing aspects of newborn bloodspot screening for NSW, for Australia and for international use.

She is committed to education and training – supervising students and providing lectures, workshops and hands on training both in NSW and overseas. Due to her depth of knowledge in all aspects of newborn bloodspot screening she is requested as an invited speaker on a large number of topics associated with newborn screening.

Dr Callum Wilson
National Metabolic Service, Starship Children’s Hospital

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Ko Callum Wilson tōku ingoa. Nō Whakatu ōku tīpuna. Kei te noho au ki Maraetai, Tāmaki Makaurau, Aotearoa. After his junior doctor years Callum worked as family doctor in a small New Zealand city. He returned to hospital medicine to further his skills with the idea that he would continue as general practitioner. However he enjoyed Paediatrics so much he decided to re-train as a Paediatrician. A similar serendipitous fork in the road lead him down the metabolic pathways. After completing his biochemical genetics training at Great Ormond Street Hospital for Sick Children in London he returned to Auckland’s Starship Children’s Hospital and set up the New Zealand National Metabolic Service in 2000. Along with Dr Dianne Webster he established the country’s expanded newborn screening programme in 2006. While his main academic interest is the genetic diseases encountered in Pacific Peoples he has published extensively on all forms of metabolic medicine and clinically remains a general metabolic practitioner.