SCIENTIFIC ADVISORY BOARD
Prof. Dr. Timothy Cox
Timothy M. Cox FMedSci, Professor of Medicine Emeritus in the University of Cambridge, was elected to the 1962 Chair of Medicine in 1988 and is a Life Fellow of Sidney Sussex College. Currently a Director of Research in the University Department of Medicine and Honorary Consultant Physician at Addenbrooke’s NHS Trust Hospitals, he was the Founding Director of the MB/PhD programme in Cambridge (1989-2014) – the first the UK.
Educated at Oundle School, he was Price Entrance Scholar at The London Hospital Medical College and after internships, took up a two-year Junior Lectureship in Pathology in the Bernard Baron Institute before returning to clinical training posts at the Royal Postgraduate Medical School, Hammersmith, London, and the Oxford United Hospitals. Subsequently awarded a Medical Research Council Training Fellowship, Wellcome Trust Senior Fellowship in Clinical Science and Wellcome Trust Senior Lecturer he was appointed Senior Lecturer in Haematology and Medicine at the University of London. In 1983-84 he was a Visiting Scientist in the Department of Biology, Massachusetts Institute of Technology, USA and at the Sir William Dunn School of Pathology, Oxford, in 1986.
His research interests are in the biochemical genetics of inborn errors of metabolism, latterly with special reference to lysosomal diseases: he has authored more than 270 original articles including reviews and research publications. Recently he has conducted therapeutic research in gene transfer as well as clinical trials leading to the global approval of two therapies that interdict pathways of sphingolipid metabolism. An Internist and Metabolic Physician, he is an Editor and author of The Oxford Textbook of Medicine, currently in its 5th Edition.
Prof Dr. Volkmar Gieselmann
Prof. Volkmar Gieselmann received his MD in 1981 from the University of Münster. From 1981-84 he was a postdoc at the Institute of Biochemistry at the University of Münster. After two years of clinical experience in Hematology and Oncology he worked at the Harvard Medical School Department of Genetics between 1986 and 1988 before becoming a Research Associate at the Department of Biochemistry at the University of Göttingen. In 1993 became an Associate Professor of Biochemistry at the University of Göttingen in 1993 and at the University of Kiel in 1994. Since 1999 he is full professor of Biochemistry at the University of Bonn. His research interests include pathophysiologic, genetics and therapy of lysosomal storage disease, in particular metachromatic leukodystrophy.
Prof. Gieselmann received the Heisenberg-Scholarship of the DFG and was endowed Schilling Professorship of the Stifterverband für die Deutsche Wissenschaft in 1993. In 2008 Professor Gieselmann received the Eva Luise Köhler Award for Research in Rare diseases.
He has been a member of the Board of Directors of the University of Bonn from 2009-2015 and Chairman of the European Study Group on Lysosomal Diseases (ESGLD) from 2007-2015.
Prof. Dr. Gregory Pastores
Prof. Pastores graduated from the University of St. Tomas in Manila (1983) and received his training in Paediatrics and Genetics at the Mount Sinai Medical Center in New York (1989) and at the Mayo Clinic in Minnesota (1991).
He has extensive clinical and research experience in the diagnosis and management of patients with the lysosomal storage disorders and other inborn errors of metabolism. He was also engaged in the development and testing of treatments for Gaucher, Fabry, MPS I, IV and VI, Pompe disease and a late (adult)-onset form of Tay-Sachs disease (GM2-gangliosidosis). He has published over 200 papers, 20 book chapters and two textbooks.
Prof. Dr. Elsa Shapiro
Elsa Shapiro, Ph.D., is Professor of Pediatrics and Neurology in the Division of Pediatric Behavioral Neuroscience at the University of Minnesota. She is retired, but remains a part-time faculty member. She now has a consulting practice to provide assistance to the pharmaceutical industry in the use of neurocognitive and neurobehavioral endpoints in clinical trials and natural history studies with rare diseases She has a Ph.D. in Psychology from the University of Minnesota and took her internship and post-doctoral training at National Children’s Medical Center in Washington DC. She has her boards in clinical psychology. Dr. Shapiro is known for research in neurobehavioral and neuroimaging manifestations of genetic neurodegenerative disorders. She developed methods of longitudinal assessment of neurocognitive functions, delineated the neurocognitive phenotypes of several genetic disorders, studied the relationships between quantitative neuroimaging and neuropsychology in treated and untreated children, and examined the characteristics of dementia in children with neurodegenerative disease. She has more than 100 peer-reviewed publications and invited chapters. Recently, she was the co-Principal Investigator of the NIH-supported Lysosomal Disease Network, and Principal Investigator of Longitudinal Studies of Brain Structure and Function in the Mucopolysaccharidoses until 2014. She was also co-Principal Investigator of a natural history study of MPS III.
Dr. Shapiro also has a strong interest in the effects of poverty on the developing brain and previously led a large study of the effects of lead burden and other social and biological variables on the cognitive development of high-risk inner city children, and has consulted on the effects of cerebral malaria and HIV on neurodevelopment in Ugandan children. In addition to her research, she was the founder of the Pediatric Neuropsychology clinic and training program at the University of Minnesota in 1974, training many post-doctoral fellows. She has mentored 11 fellows and junior faculty in research in neurodegenerative diseases. She now lives in Portland, Oregon.
Prof. Dr. Bryan Winchester
Bryan Winchester is an Emeritus Professor of Biochemistry at the UCL Institute of Child Health at Great Ormond Street Hospital, University College London. He has taught Biochemistry and carried out research on various aspects of lysosomal storage diseases at London University for 40 years. In particular he worked closely with the Enzyme Diagnostic Laboratory at Great Ormond Street Hospital from 1988-2006. He was chairman of the European Study Group on Lysosomal Diseases from 1997-2007. On retirement in 2006 he became a Trustee of the British MPS Society.