Scientific Program Committee
John Christodoulou AM MB BS PhD FRACP FFSc(RCPA) FRCPA FAHMS
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.
Dr Janice Fletcher
Dr Janice Fletcher is a paediatrician, biochemical geneticist and genetic pathologist. Her current practice is in genetic pathology, where she brings IEM expertise to genomic analysis.
Dr. Eva Morava
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 (CDG). She is on the Minnesota newborn screening committee. She is council member of the Society for the Study on Inborn Errors of Metabolism (SSIEM). 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 U54 FCDGC consortium https://www.rarediseasesnetwork.org/fcdgc studying 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 has more than 300 publications. 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.
Johan L.K. Van Hove, MD, PhD, MBA
Johan Van Hove was trained in Leuven, Belgium and at Duke University in North Carolina, USA. He is a Professor in Pediatrics at the University of Colorado and sees inherited metabolic diseases patients at the Children’s Hospital Colorado and directs a mitochondrial center including a diagnostic laboratory for mitochondrial disorders. His primary research interests are in nonketotic hyperglycinemia and in disorders of cellular energetics.
DR. ROBERTO GIUGLIANI, MD, PhD
Professor, Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
Dr. Roberto Giugliani, MD, PhD, is a medical geneticist with specialization in inherited metabolic diseases. He is Full Professor at the Department of Genetics of the Federal University of Rio Grande do Sul, and active member of the Medical Genetics Service of Hospital de Clinicas, in Porto Alegre, Brazil. He is also Coordinator of the Brazilian Institute of Population Medical Genetics, Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, Chairman of the Latin American School of Human and Medical Genetics, and Member of Brazilian Academy of Sciences. He is past President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening, the Latin American Network of Human Genetics (RELAGH), and the Brazilian Society of Medical Genetics. Prof. Giugliani’s main interests are concentrated in screening, diagnosis, and treatment of IEM, having supervised the training of over 100 MSc/PhDs, and being author of over 500 scientific papers.
Prof J R Bonham
Jim Bonham is currently the National Laboratory Lead for the Newborn Screening Blood Spot Programme in the UK on behalf of Public Health England. He is also President of the International Society for Neonatal Screening with more than 500 members in 40 countries.
He has interests in the organisation, quality and effectiveness of newborn screening and how this might be optimised and extended to benefit patients and families in the UK and Europe and more recently as part of the Global Taskforce on newborn screening, to low and middle income countries.
Prof. Dr. Ute Spiekerkötter
University Medical Center, Department of General Pediatrics, Adolescent Medicine and Neonatology, Freiburg, Germany. Full Professor at Albert-Ludwigs University, Freiburg, Germany
Ute Spiekerkötter is a pediatrician, specialized in Endocrinology and Diabetology, as well as in Metabolic Medicine. She is an active researcher who has worked in the field for more than 20 years and has authored and co-authored over 90 journal articles. Her research is mainly focused on mitochondrial fatty acid oxidation disorders with a particular interest in disease pathogenesis and new treatment approaches. Between 2008 and 2012 she worked at the University Children’s Hospital in Duesseldorf where she held a Full Professorship in Pediatric Metabolic Diseases and was Head of the Metabolic Division. In 2012 she moved to Freiburg and took up the role of Medical Director and Head of the Metabolic Center at the Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center. Since 2012 she is also a Full Professor for Pediatrics at Albert-Ludwigs University in Freiburg, Germany.
Prof. Torayuki Okuyama MD, PhD,
Director of Center for Lysosomal Storage Diseases, Director of Clinical Laboratory Medicine National Center for Child Health and Development
Prof. Torayuki Okuyama is currently a director of center for lysosomal storage diseases and department of clinical laboratory medicine in National Center for Child Health and Development in Tokyo, Japan. He graduated from Keio University School of Medicine. He is a pediatrician, and he has become a Chairman of Japan Society of Inherited and Metabolic Diseases since 2020. He has been leading the research in inherited and metabolic diseases, especially in lysosomal storage diseases. He also contributed to introduce many enzyme drugs for treating lysosomal storage diseases in Japan. He conducted several clinical studies of novel drugs. His current research interest is to explore the novel therapeutic approaches for neurocognitive problems in lysosomal storage diseases. He conducted an investigator-initiated trial for intracerebroventricular enzyme replacement therapy of mucopolysaccharidosis type II as a primary investigator, and this new therapy has been recently approved in Japan.
Dr. Kaustuv BHATTACHARYA,
Metabolic Paediatrician, Genetic Metabolic Disorders Service, The Children’s Hospital at Westmead
Dr Kaustuv Bhattacharya is a UK trained Paediatrician. He moved to Sydney, Australia in June 2008 and has continued to be a full time metabolic physician. He has advocated and published in metabolic disease therapeutic research, continuing to promote clinical and translational research infrastructure. He is honorary Senior Lecturer at Sydney University and maintains academic commitments both in Sydney, across Australia and internationally. Kaustuv warmly welcomes delegates to ICIEM 2021 in Australia.
Anita INWOOD, Ba Nurs, Grad Dip Paeds, MNP
Director, Queensland Lifespan Metabolic Medicine Service, Queensland Children’s Hospital, Brisbane, Australia
Associate lecturer, University of Queensland, Brisbane Australia
Anita Inwood has been a paediatric nurse for 30 years and working as the Queensland nurse lead in metabolic medicine for the previous 17yrs. She qualified as a Metabolic Nurse Practitioner (NP) through the University of Queensland in 2015 and a university associate lecturer since 2016. She was an executive committee member of the Australasian Society of Inborn Errors of Metabolism (ASIEM) from 2005 to 2019, during this time she held the positions of clinical nurse rep, secretary and chairperson. Anita won a Churchill Fellowship in 2012 and gained the opportunity to work in the United Kingdom with a focus on lysosomal storage disease and transition. Based on that experience she led the formation of the Queensland Lifespan Metabolic Medicine Service. Anita’s clinical responsibility is the management of children with phenylketonuria, fatty acid oxidation disorders and other causes of hypoglycaemia. In January 2020, Anita was appointed the Director of the Queensland Lifespan Metabolic Medicine Service.
ICIEM 2021 Abstract Reviewers