Local Organizing Committee

Roberto Giugliani

Dr. Roberto Giugliani, MD, PhD, is Professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS), Chief of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, and Director of the WHO Collaborating Centre for the Development of Medical Genetics Services in Latin America. He is also Coordinator of the Brazilian Institute of Population Medical Genetics (INAGEMP) and of the Latin American School of Human and Medical Genetics (ELAG), is the Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, and Full Member of the Brazilian Academy of Sciences.

Dafne D. G. Horovitz

Dr. Horovitz is a clinical geneticist and PhD in Public Health, working at the National Institute of Women's, Children and Adolescent Heath Fernandes Figueira/Fiocruz in Rio de Janeiro. Her work emphasizes birth defects, prenatal diagnosis, genetic counselling, public health policies and new treatments for genetic diseases. She coordinates the outpatient unit for enzyme replacement therapy. She has published and collaborated in research and clinical papers on medical genetics, lysosomal storage disorders and public health. Dr. Horovitz is also a consulting member of the Brazilian Ministry of Health for the policy on rare diseases.

Scientific Committee

Anita Inwood

Anita has been a paediatric nurse for 24 years. She qualified as a Metabolic Nurse Practitioner in 2015, having previously worked as a Metabolic Clinical Nurse Consultant in Queensland since 2003. She has been an executive committee member of the Australasian Society of Inborn Errors of Metabolism (ASIEM) since 2005 and is currently the serving Chairperson. She won a Churchill Fellowship in 2012 and gained the opportunity to work within the National Health Service in the United Kingdom. Her Fellowship was focused on lysosomal storage disease and transition.

Antonia Ribes

Dr. Antonia Ribes, received her speciality in Clinical Biochemistry and her PhD at the University of Barcelona. At present she is the head of the Division of Inherited Metabolic Diseases at Hospital Clinic of Barcelona, Spain. She is the group leader of the 737 Unit of the Spanish Research Network for Rare Diseases (CIBERER), and the group leader of Inherited Metabolic Diseases at the Research Institute of Hospital Clinic (IDIBAPS). She is a council member of the SSIEM. She has focused her research on translational medicine in the field of inherited metabolic diseases, particularly in the energy metabolism. The strategic objective of her group is to investigate the genetic and biochemical bases, as well as the physiopathological mechanisms of these diseases, with the ultimate aim to develop new diagnostic and therapeutic strategies.

Carlo Dionisi-Vici

Dr. Carlo Dionisi-Vici, obtained his MD degree and his residency in Paediatrics at the University "la Sapienza" in Rome. He is currently head of the Division of Metabolic Diseases, Department of Paediatric Medicine, at the Bambino Gesù Children's Research Hospital in Rome, Italy. He is member of evaluation programs on newborn screening in Italy. His research concerns organic acidemias, urea cycle defects, homocystinurias, management of metabolic emergencies, mitochondrial and lysosomal disorders and hyperinsulinism. He has conducted translational research for the development of guidelines in inborn errors of metabolism and applied new technologies to improve diagnosis, prevention and treatment of metabolic diseases.

Filippo Vairo

Dr. Filippo Vairo is a clinical geneticist and holds a Master degree in Medical Sciences and a PhD degree in Genetics and Molecular Biology. He is a consultant in the Medical Genetics Service in Hospital de Clínicas de Porto Alegre, Brazil, where he is the responsible for the follow up and treatment of patients with Fabry and Gaucher diseases. He is member of the Editorial Board of the Journal of Inborn Errors of Metabolism and Screening, member of the directory board of the Brazilian Society of Medical Genetics, affiliated member of the Brazilian National Academy of Medicine and is one of the organizers of the Latin American School of Human and Medical Genetics. Currently, he is a research fellow at Mayo Clinic Center of Individualized Medicine, in Rochester, MN, USA.

Fumio Endo

Dr. Fumio Endo received his M.D. and Ph.D. from Kumamoto University in Kumamoto, Japan. After he received PhD, he went to Emory University in Atlanta, Georgia, USA where he worked with Skip Elsas at the Department of Pediatrics, Medical and Biochemical Genetics. After Dr Endo came back to Japan, he became a faculty member of Department of Pediatrics at Kumamoto University. Currently, Dr. Endo is Professor and Chairman of Department of Pediatrics at Kumamoto University. He worked as the Chairman of Japan Society of Inherited Metabolic Diseases from 2007 to 2013. He is one of the founders of Asian Society for Inherited Metabolic Diseases, and is serving as a Chairman of the society since 2010.

Hiroyuki Ida

M.D., Ph.D. Affiliation: Executive Chairman and Professor; Department of Pediatrics, The Jikei University School of Medicine; Trustee, The Jikei University School of Medicine; Vice President, The Jikei Hospital
Academic Position: Chairman of the Board of Directors; Japanese Society for Inherited Metabolic Disease (JSIMD); Board of Director, Japan Pediatric Society (JPS); Honorary Member, American Pediatric Society (APS)
Awards: Research Award from Tokyo Metropolitan Medical Association (1999); Young Investigator Award from Japanese Society for Inherited; Metabolic Disease (2001)

Ida Schwartz

Ida Vanessa D. Schwartz, MD, PhD, held residency in Medical Genetics at the Medical Genetics Service of the Hospital de Clínicas of Porto Alegre (SGM-HCPA) - Brazil, and a master's and doctorate degree in lysosomal diseases, with a sandwich PhD at the Willink Biochemical Genetics Unit (Manchester, UK). She is currently the coordinator of the Gaucher Disease and Inborn Errors of Metabolism (IEM) Clinics (Small Molecules) of SGM-HCPA, coordinator of the Residency Program in Medical Genetics at SGM-HCPA, and a professor of genetics and clinical genetics at the Faculty of Medicine, Universidade Federal do Rio Grande do Sul (UFRGS) - Brazil. She is the author of more than 100 indexed articles, all in the IEM area, and an affiliated member of the Brazilian Academy of Sciences.

Janice Fletcher

MBBS, MD, FRACP, FRCPA, BSc. Clinical Geneticist (HGSA), Biochemical Geneticist (HGSA), Genetic Pathologist, and Clinical Director, Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia

Dr Janice Fletcher is a paediatrician, Biochemical and Clinical Geneticist and a Genetic Pathologist. As Clinical Director for Genetics and Molecular Pathology, she is responsible for the provision of clinical and laboratory genetic services across the state of South Australia.
She maintains a strong research interest and overall responsibility for newborn and antenatal screening and biochemical genetics laboratory services, including the National Referral Laboratory for the Diagnosis of Lysosomal and Related Diseases.
She is the Deputy Director of the state Pathology service, SA Pathology.
Dr Janice is committed to education about the diagnosis and management of metabolic disorders and has presented a series of lectures and short courses on these topics to Malaysian Paediatricians.

José Abdenur

Dr. Abdenur is Division Chief of Metabolic Disorders and Director of the Metabolic Laboratory at CHOC Children’s in Orange, California, USA. He is Associate Clinical Professor of Pediatrics at the University of California, Irvine and Program/ Training Director for Medical Biochemical/ Clinical Biochemical Genetics for the UCLA Intercampus Medical Genetics Training Program.
Dr. Abdenur received his medical degree at the Universidad de Buenos Aires, Argentina. He trained in pediatrics at Hospital Pedro de Elizalde in Argentina; in pediatric endocrinology at North Shore Hospital, Cornell University, NY; in Biochemical Genetics at the University of Colorado, Denver and in Clinical Genetics at Mount Sinai School of Medicine, NY.
His areas of interest are Diagnosis and Treatment of Inborn Errors of Metabolism with special interest in small molecules and mitochondrial diseases.

Juan F Cabello

MD. Pediatric Neurologist:
- Chief of the Pediatric Neurology Fellowship Program. University of Valparaiso, Chile
- Chief of the Inborn Errors of Metabolism group at the Institute of Nutrition and Food Technology (INTA), University of Chile
- President of the Latin American Society of Inborn Errors of Metabolism and Newborn Screening (SLEIMPN)

Kaustuv Bhattacharya

Dr Bhattacharya is a paediatrician trained in UK. Metabolic training was at Great Ormond Street Hospital for Children with adult experience at The Charles Dent Metabolic Unit, London and fellowship in Sydney. He obtained a research MD in clinical nutrition for work on glycogen storage disease from University College London. His work also led to a new carbohydrate therapy for GSD I being developed and marketed. He moved to Australia 2008, where he is now practicing as a paediatric metabolic physician continuing clinical research projects in several inborn errors of metabolism being principal investigator for several clinical trials.

Marshall Summar

Marshall Summar is Chief of the Division of Genetics and Metabolism and the Margaret O'Malley Chair of Molecular Genetics at Children's National Medical Center. He is an international expert in inborn errors of metabolism particularly those in the urea cycle. His research involves translational studies taking basic molecular genetics research and developing direct clinical applications. He also is the Director for the NIH sponsored Clinical Research Center at Children's National. He is one of the founding investigators of the Urea Cycle Disorders Consortium and works with international coordination of its efforts. Dr. Summar is board-certified in pediatrics, clinical genetics, and biochemical genetics.

Nicola Longo

Dr. Longo received his M.D. and Ph.D. in molecular biology and pathology from the University of Parma in Italy. He trained in Pediatrics, Medical and Biochemical Genetics at Emory University in Atlanta, Georgia, USA. Dr. Longo is board certified in medical genetics and clinical biochemical genetics. Currently, Dr. Longo is Professor of Pediatrics and Pathology at the University of Utah, Chief of the Division of Medical Genetics in the Department of Pediatrics, and Medical co-Director of the Biochemical Genetics and Newborn Screening Laboratories at ARUP laboratories in Salt Lake City. His research concerns the molecular bases of metabolic disorders and their identification through newborn screening. He has an active clinical research program directed toward the development of new therapies for patients with metabolic disorders.

Peter Clayton

Prof Peter Clayton studied medicine at King's College, Cambridge and University College Hospital, London. He trained in academic paediatrics in London including at Great Ormond Street Hospital / Institute of Child Health where he undertook his MD thesis on analysis of bile acids by GC-MS. He was appointed Metabolic Consultant at Great Ormond Street in 1987 and Professor of Paediatric Metabolic Disease and Hepatology in the UCL Institute of Child Health in 1998. His research interests include inborn errors of bile acid and sterol metabolism and inborn errors affecting vitamin B6 metabolism. He is currently Chairman of the SSIEM.

Roberto Giugliani

Dr. Roberto Giugliani, MD, PhD, is Professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS), Chief of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, and Director of the WHO Collaborating Centre for the Development of Medical Genetics Services in Latin America. He is also Coordinator of the Brazilian Institute of Population Medical Genetics (INAGEMP) and of the Latin American School of Human and Medical Genetics (ELAG), is the Editor-in-Chief of the Journal of Inborn Errors of Metabolism and Screening, and Full Member of the Brazilian Academy of Sciences.

Toshiyuki Fukao

M.D., PhD. I am a professor in Department of Pediatrics, Graduate School of Medicine, Gifu University in Japan. I have been working on inborn errors of ketone body metabolism and fatty acid beta-oxidation, and on organic acidurias. I am one of the international committee members in JSIMD. Please call me Toshi. I like fishing and skiing.