Committees for the 2024 Medical Award in ASMD and Pompe Disease
The two Scientific Committees each comprise international experts in ASMD and Pompe disease. These experts will receive an honorarium from Sanofi, which is only intended to cover time spent reviewing the applications and is not meant to influence the experts’ decision-making. The experts will individually review and assess each of the received applications according to their own independent judgment and scientific expertise.
Scientific Committee members - ASMD
Prof. Dr. David Cassiman, MD, PhD, Metabolic Center, University of Leuven, Belgium
Professor. David Cassiman is an internist, mainly seeing patients with inborn errors of metabolism at the University Hospitals in Leuven, Belgium. He was trained in Leuven, London, and Melbourne, and worked on the Undiagnosed Diseases Program at the National Institute of Health (NIH) (Bethesda, MD, USA) for three years. He participates in research on clinical, pharmaco-economic, and ethical issues associated with rare diseases and orphan drugs. He sits on the SSIEM Council, the editorial board of the Journal of Inherited Metabolic Diseases, and the European Porphyria Network (EPNET) executive board.
Dr. Eugen Mengel, MD, PhD, SphinCS, Hochheim, Germany
Dr. Eugen Mengel studied medicine at Goethe-University, Frankfurt and Phillipps-University, Marburg in Germany. From 1993 to 2001 he was educated in pediatrics at the Children's Hospital, University of Mainz (Germany). Specialized education was undertaken in pediatric metabolic medicine and hematology. In 1994 he joined the lysosomal storage disorders (LSD) group named Villa Metabolica of Michael Beck with special interests in Gaucher disease and Niemann-Pick diseases. From 2001 - 2019 he was consultant in pediatric inborn errors of metabolism. In international clinical trials for acid sphingomyelinase deficiency (ASMD), Niemann-Pick type C (NPC), Pompe disease, Gaucher disease, lysosomal acid lipase deficiency (LALD), Mannosidosis, and Morquio disease, he has been Principal Investigator. He is following the German cohort of ASMD patients with 45 adult and pediatric patients. In 2019 he founded the independent clinical research institute SphinCS GmbH, performing investigator initiated studies and international multicenter Phase 2 – 4 trials with promising investigational products in the field of LSDs. He is an active member of the European Working Group on Gaucher Disease (EWGGD), European Study Group on Lysosomal Diseases (ESGLD), and Society for the Study of Inborn Errors of Metabolism (SSIEM).
Prof. Dr. Roberto Giugliani, MD, PhD, MSc, Federal University of Rio Grande do Sul, Brazil
Roberto Giugliani is Professor at the Department of Genetics of the Federal University of Rio Grande do Sul (UFRGS) and Chief of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil. Dr. Giugliani earned his MSc and PhD degrees at the University of Sau Paulo and did his postdoctoral training in London, Genova, and Paris. He is past President of the Brazilian Society of Clinical Genetics, President of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening, and President of the Latin American Network of Human Genetics (RELAGH). Currently, Prof. Giugliani is Researcher level IA of the Brazilian Council for Development of Science and Technology, and Director of the WHO Collaborating Center for the Development of Genetic Services in Latin America. He is also a member of 13 scientific societies, including the Brazilian Academy of Sciences. Prof. Giugliani's research interest is the field of inborn errors of metabolism, particularly lysosomal storage diseases. He has supervised the post-graduate studies of more than 50 MSc/PhD graduates, and has more than 220 papers published in international journals. In 2007, he received the FAPERGS Prize Medal from Brazil for his contributions to science.
Scientific Committee members – Pompe disease
Dr. Yin-Hsiu (Nancy) Chien, MD, PhD, Department of Medical Genetics, National Taiwan University Hospital, Taiwan
Dr Yin-Hsiu Chien is Clinical Professor at the Department of Pediatrics at the National Taiwan University, Taiwan, and Attending Physician of the Department of Medical Genetics and Pediatrics at the National Taiwan University Hospital. She undertook pediatric residency training, and completed her fellowship in Pediatric Allergy, Immunology & Rheumatology before then completing her fellowship in Medical Genetics and Metabolism, all at National Taiwan University Hospital. She participates in research on Pompe disease, focusing especially the early diagnosis and the improvement in the treatment. She is the director of the newborn screening center at National Taiwan University Hospital, which routinely screens around one third of newborn infants in Taiwan.
Prof. John Vissing, MD, DMSci, University of Copenhagen, Denmark
John Vissing is professor of Neurology at the University of Copenhagen, Denmark, and the Director of the Copenhagen Neuromuscular Center at the National Hospital, Rigshospitalet, in Copenhagen, with 48 dedicated neuromuscular employees. He obtained his MD in 1986 and was then a research fellow at University of Copenhagen and UT, Southwestern Medical Center in Dallas, USA. His research focuses on hereditary muscle diseases, myasthenia gravis. He has authored 490 scientific papers on neuromuscular diseases.
Dr Juan Llerena, MD, Foundation Oswaldo Cruz, Rio de Janiero, Brazil
Dr. Juan Llerena Jr is Consultant of Clinical Genetics and Director of the Medical Genetics Centre of National Institute Fernandes Figueira, Fiocruz (Rio de Janeiro, Brazil), a maternal-infantile unit of the Brazilian Ministry of Health Department, since 1989. He trained as a General Practitioner and Internal Medicine with special interests in the fields of dysmorphology and clinical/molecular cytogenetics.Dr. Llerena Jr co-founded the Metabolic Reference Centre for Enzymatic Replacement Therapy at the Medical Genetics Centre of the National Institute Fernandes Figueira in Rio de Janeiro. He maintains active clinical and research interests in Medical Genetics.Dr. Llerena Jr is the coordinator for the International Pompe Registry in Brazil and is LATAM Member of the International Advisory Board for Pompe Registry – Genzyme/Sanofi.He has co-authored over 150 articles in peer-reviewed journals.More recently, he became Director of The Reference Centre for Rare Disorders in Rio de Janeiro city, Brazil.
Dr. David W. Stockton, MD, Central Michigan University and Children’s Hospital of Michigan, United States
David Stockton went to medical school at the University of Michigan and completed an internal medicine residency there, followed by a genetics fellowship at Baylor College of Medicine in Houston, Texas. He is currently a professor of Pediatrics at Central Michigan University and Chief of the Division of Genetic, Genomic and Metabolic Disorders at Children's Hospital of Michigan in Detroit, Michigan.
MAT-GLB-2305953-3.0 - 04/2024 | MAT-US-2400764 v3.0 - P | Expiration date 03/01/2025