Geneviève Bernard, McGill University, Montreal Children’s Hospital
Dr. Geneviève Bernard received her Medical Degree (2002) and Master’s degree in Neurosciences (2003) from Université de Montréal. She completed her residency in Pediatric Neurology at McGill University (2008) and her fellowship in Neurogenetics and Movement Disorders at Université de Montréal (2011) under the supervision of Pr. Bernard Brais, Pr. Guy A Rouleau and Dr. Sylvain Chouinard. She started her career as an independent investigator and pediatric neurologist in October 2011 at the Montreal Children’s Hospital of the McGill University Health Center (MUHC) and MUHC Research Institute. She is currently an Associate Professor at McGill University, in the Departments of Neurology and Neurosurgery and Pediatrics and a member of the Medical Genetics Department of the MUHC. Dr. Bernard and her team, together with her international collaborators, discovered the three genes responsible for 4H leukodystrophy and published, in collaboration with Dr. Nicole Wolf and numerous international collaborators, the largest clinical, radiological and genetic characterization study on this disorder. Dr. Bernard published more than 70 peer-reviewed publications, including some in high impact factor journals such as Am J Hum Genet, Arch Neurol, Mov Disord, Med Genet, Ann Neurol, Neurology, Orphanet J Rare Dis, and Nat Commun, 12 book chapters. She is the Canadian representative on several international consortia, including the Global Leukodystrophy InitiAtive (GLIA), ALD connect and the tRNA synthetases disorders research consortium.
Speaking in: POLR3-related leukodystrophy: from gene identification and phenotypic description to understanding of disease mechanisms, Saturday May 6, morning
Karl-Dimiter Bissig, Baylor College of Medicine, Houston
Karl-Dimiter (Dimi) Bissig is an Assistant Professor at the Center for Cell and Gene Therapy at Baylor College of Medicine in Houston, Texas. Dr. Bissig received his MD and PhD from the University of Bern School of Medicine & Natural Science, Bern, Switzerland. Dr. Bissig pursued his long-standing interest in hepatology during his postdoctoral training at The Salk Institute for Biological Studies, La Jolla, California. There he established the FRG mouse as a human hepatocyte acceptor strain and demonstrated the utility of human liver chimeric mice for replication of hepatotropic viruses and other applications. A few years later, his laboratory developed the first xenograft model for metabolic liver disease. More recently, his laboratory introduced a new therapeutic concept called metabolic pathway reprogramming that holds great potential for many currently untreatable disorders of liver metabolism.
Dr. Bissig has been on the faculty at Baylor College of Medicine since 2011, where he has an active research program for metabolic liver disease, hepatitis and liver cancer.
Speaking in: Metabolic Pathway Reprogramming: A Novel Therapeutic Approach for Tyrosinemia Type I, Friday May 5, afternoon
Carlo Dionisi-Vici, Division of Metabolic Diseases, Department of Pediatric Medicine, Bambino Gesù Children’s Research Hospital, Rome, Italy
Dr. Carlo Dionisi-Vici obtained his medical degree and completed his residency in Paediatrics at “La Sapienza” University, Rome, Italy. He is currently Head of the Division of Metabolic Diseases and of the Research Unit for Metabolic Diseases at the Bambino Gesù Children’s Research Hospital, Rome, Italy. Dr. Dionisi-Vici is also the President of the Italian Society for the study of Inborn Errors of Metabolism (SSIEM). His clinical work and research are focused on organic acidaemias, urea cycle defects, homocystinurias, mitochondrial and lysosomal disorders, hyperinsulinism, and the management of metabolic emergencies. Throughout his career, Dr. Dionisi-Vici has conducted translational research, applied new technologies to improve diagnostic processes, and contributed to improving the prevention and treatment of inborn errors of metabolism.
Speaking in: Clinical diagnosis and treatment of disorders of cobalamin metabolism, Friday May 5, afternoon
Can (John) Ficicioglu, Children’s Hospital of Philadelphia, University of Pennsylvania
Dr. Can (John) Ficicioglu is currently an Associate Professor of Pediatrics at the Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania. He received his M.D. in 1985 from the University of Istanbul, Cerrahpasa Medical School. He completed his internship and residency in Pediatrics in 1991. He then went on to receive his Ph.D. in Histology and Embryology (1992-1996) from the University of Marmara, Istanbul. He advanced from Instructor (1992) to Associate Professor in Pediatrics (1996) in the Division of Metabolism/Nutrition at the Cerrahpasa Medical School, University of Istanbul. In 2000, He completed his Genetics fellowship at the Children’s Hospital Boston, Harvard Medical School.
Dr. Ficicioglu is director of the Newborn Metabolic Screening Program and Lysosomal Storage Disease Center at The Children’s Hospital of Philadelphia with expertise in newborn metabolic screening, lysosomal storage disorders, intermediary metabolism defects, galactosemia, and PKU. His research focuses on developing best practices in diagnostic algorithms and outcomes of inborn errors of metabolism detected through newborn screening. He is also interested in clinical trials of new drugs to treat inborn errors of metabolism such as lysosomal storage disorders and phenylketonuria for which he has received several grants to support his clinical research. Currently, He has three service grants from Pennsylvania, Delaware, and New Jersey states’ newborn screening programs, and two clinical trials, and nine registries supported by pharmaceutical grants. His research has resulted in over 65 peer-reviewed journal articles as well as significant contributions to scientific committees, with emphasis on newborn screening and inborn errors of metabolism.
Speaking in: Dietitians’ Webinar: Dietary Treatment of Cobalamin C Deficiency, Thursday May 4, 1300-1500
Mark Korson,Genetic Metabolic Center for Education, Salem
Dr. Korson graduated from the University of Toronto School of Medicine and completed his pediatric residency nearby at The Hospital for Sick Children. After a fellowship in genetics and metabolism at Boston’s Children’s Hospital, he became director of the Metabolism Clinic at Children’s until 2000. In 2000, Dr. Korson became director of the Metabolism Service at Tufts Medical Center’s Floating Hospital for Children, as well as Associate Professor of Pediatrics at Tufts University School of Medicine until 2014. In 2015, Dr. Korson co-founded the Genetic Metabolic Center for Education (GMCE), a comprehensive initiative for improving the level of care for children and adults with metabolic disease.
Dr. Korson promotes an educational approach to address the growing crisis in metabolic health care due to the shortage of available clinicians to treat this patient community. Before the GMCE was established, between 2007 and 2011, Dr. Korson directed the Metabolic Outreach Service, based at Tufts Medical Center, for which he traveled on a regular basis to five teaching hospitals in the northeastern US that had no on-site metabolic service. Also in 2007, Dr. Korson co-founded the North American Metabolic Academy, an annual one-week intensive course about metabolic disease for genetic and metabolic trainees; to date, more than half of all American genetic trainees have enrolled in this course. NAMA is sponsored by the Society for Inherited Metabolic Disorders.
Speaking in: Dietitians’ Webinar: Mitochondrial Disease: A Dietary and Nutritional Perspective, Thursday May 4, afternoon
Marc D. McKee, McGill University
Dr. Marc D. McKee is a professor at McGill University in Montreal in the Faculties of Dentistry and Medicine. He received his B.Sc. and Ph.D. degrees from McGill University in cell biology, and after a postdoctoral fellowship at Harvard / The Children’s Hospital Boston, he held an academic appointment at University of Montreal, after which he moved to McGill University in 1998.
Dr. McKee’s research focuses on molecular determinants of biomineralization in bones and teeth, and in pathologic calcification. With over 200 scientific articles published in peer-reviewed journals and books, with a Thomson-Reuters h-index of 60 and with over 14,000 citations of his work, Dr. McKee has received two Distinguished Scientist Awards from the International Association for Dental Research – the Young Investigator Award (1996) and the Research in Biological Mineralization Award (2003). He served for 17 years as Associate Dean Graduate Studies and Research at McGill University’s Faculty of Dentistry, and he teaches extensively in the medical and dental schools at McGill. Dr. McKee also served a 6-year term on the Scientific Advisory Board of the Institute for Musculoskeletal Health and Arthritis of the Canadian Institutes for Health Research. Dr. McKee worked closely with Enobia Pharma originally of Montreal (now acquired by Alexion Pharmaceuticals) to develop an enzyme replacement therapy for the bone disease hypophosphatasia that recently has been approved for clinical use worldwide.
Roberto Mendoza-Londono, University of Toronto, The Hospital for Sick Children
Dr. Mendoza-Londono is an associate Professor of Paediatrics and Molecular genetics at the University of Toronto and the Hospital for Sick Children. He works as a clinical geneticist and is the interim head of the Division of Clinical and Metabolic Genetics. He obtained his Medical and Master’s degree in Biology with emphasis in Human Genetics degree from the Pontificia Universidad Javeriana in Bogotá, Colombia. He completed a residency in paediatrics at the State University of New York in Brooklyn and a fellowship in clinical and metabolic genetics at Baylor College of Medicine in Houston Texas. He joined the Genetics Division of The Hospital for Sick Children and University of Toronto in 2005. Dr. Mendoza has a long standing interest in the genetics of skeletal dysplasias and inherited bone disorders. As a member of the clinical team at he holds weekly general genetics and Skeletal Dysplasias and Inherited bone disorders clinics. In addition he runs a monthly multidisciplinary bone health clinic with team of health professionals from endocrinology, orthopeadics and physical therapy, interested in providing the best evaluation and care to patients with connective tissue disorders. His research interests include the identification of the genetic basis and molecular pathophisiologic mechanisms underlying common and novel genetic disorders, the delineation of the natural history and best management strategies for patients with skeletal dysplasias and inherited bone disorders. His current projects include determining the diagnostic effectiveness of whole exome sequencing in patients with clinically and radiologicaly undiagnosed skeletal dysplasia syndromes, and the characterization of the musculoskeletal phenotype in animals models of disorders that present with bone fragility and low muscle tone.
Speaking in: Skeletal Manifestations of Inborn Errors of Metabolism: Lessons form Congenital Disorders of Glycosilation, Friday May 5, morning
David S. Rosenblatt, Holder, Dodd Q. Chu and Family Chair in Medical Genetics, Professor, Departments of Human Genetics, Medicine, Pediatrics, and Biology, McGill University; Chief, Department of Medical Genetics, SMBD Jewish General Hospital, Montreal
David S. Rosenblatt is a leader of basic and clinical research and education in human genetics in Canada and internationally. He has made major contributions to our knowledge of inherited metabolic diseases, particularly in the genetics and treatment of defects of the vitamins folic acid and vitamin B12. As Chair of the Department of Human Genetics at McGill University in Montreal from 2001-2013, he built an outstanding department that has achieved international prominence both for research, and also for the education of basic and clinical scientist, clinical and laboratory physicians, and genetic counsellors. He has served as President of the Society for Inherited Metabolic Disorders, the Canadian Society for Clinical Investigation, and the Association of Medical Geneticists of Quebec. He is a Fellow of the Canadian Academy of Health Sciences and Correspondant étranger of the Académie Nationale de Médecine of France.
Speaking in: Surprises from the study of patients with inherited disorders of one-carbon metabolism, Friday May 5, afternoon
Andrea Superti-Furga, University of Lausanne
Dr. Andrea Superti-Furga has obtained his medical degrees at the Universities of Genoa and Zurich and certification in Pediatrics in Italy and Switzerland. His mentors were Professors Paolo Durand, Victor McKusick, Andrea Prader, Andres Giedion, Richard Gitzelmann, Beat Steinmann and Sergio Fanconi. He developed a research activity on inborn diseases in Zurich and then in New York with Prof. Francesco Ramirez. In 2002, he was appointed Professor for Molecular Pediatrics at the University of Lausanne; in 2004, Chairman of the Department of Pediatrics at the University of Freiburg, Germany; in October 2010 he was awarded the Leenaards Chair of Excellence in Pediatrics at the University of Lausanne. In 2014 and 2015 he was Director of the Department of Pediatrics in Lausanne, and in 2016 he was appointed Head of the Division of Genetic Medicine.
A representative of science- and biology-based medicine both in research and in clinical practice, Andrea Superti-Furga is committed to a holistic approach to children and adults with genetic disorders and rare diseases with a comprehensive perspective that includes the molecular bases of development and disease, the precision medicine approach to diagnosis and therapy, but also the medical, social, economical and ethical issues around disabled individuals with rare diseases and their families.
Speaking in: Everything is Metabolism – Also in the Skeleton, Friday May 5, morning
Nicole Wolf, VU University Medical Center, Amsterdam
Dr. Nicole Wolf is an associate professor at the department of child neurology, VU University Medical Center, Amsterdam. She studied medicine in Heidelberg, Belfast and Montreal and received her degree from the Ruprecht-Karl University Heidelberg in 1998. She completed her PhD training at the same year on differentiation and proliferation of adrenal chromaffin cells at the Department of Anatomy and Cell Biology in Heidelberg. She received her training in paediatrics and child neurology in Heidelberg and Zurich and qualified as child neurologist in 2007. In 2008, she moved to Amsterdam to join the Center for Childhood White Matter Disorders at VUmc and enjoys its stimulating atmosphere. Her research interests are hypomyelinating white matter disorders and metachromatic leukodystrophy (MLD). She has identified several new disease entities within the large group of hypomyelination and is especially interested in 4H leukodystrophy. Regarding her clinical work, she follows a large cohort of Dutch and international patients with hypomyelination and MLD, but continues to see children from the entire field of child neurology.
She is member of the board of the Dutch Society of Child Neurology, editor in chief of Neuropediatrics and member of the editorial board of Neurology. She has authored more than 100 peer-reviewed publications and 10 book chapters. Recently, she joined the scientific advisory board of the European Leukodystrophy Association (ELA) and is also a member of the scientific advisory board of the Mission Massimo Foundation.
Speaking in: Metachromatic leukodystrophy: New insights into treatment, Saturday May 6, morning