Professor Ian E. Alexander
BMedSci, MBBS (Hons), PhD, FRACP (paeds), HGSACG, FAHMS
Professor in Paediatrics and Molecular Medicine
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.
Professor Henri Gerrit (Han) Brunner
Professor of Human Genetics at Radboud University Nijmegen Medical Center, and Maastricht University Medical Center
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.
Dr Terry G. J. Derks
Pediatrician Consultant Metabolic Medicine
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 William A. Gahl
Senior Investigator, Medical Genetics Branch, Director National Human Genome Research Institute
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
Expert Technologist, Head of Metabolomics Core Facility, VIB Center for Cancer Biology, Kuleuven Belgium
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
Department of Pediatrics, University of Texas Southwestern Medical Center
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 Shigeo Kure
Professor, Department of Pediatrics, Tohoku University School of Medicine
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.
Chief Executive Officer, Rare Voices Australia (RVA)
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
Professor of Medical Genetics, Mayo Clinic School of Medicine
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
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 Callum Wilson
National Metabolic Service, Starship Children’s Hospital
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.