GOLD Management Council

Dr Michael Beck
Department of Paediatrics University of Mainz
Langenbeckstrasse 1

Dr Beck has long term clinical experience in the field of lysosomal storage disorders, and is principal investigator of many clinical trials regarding Enzyme Replacement Therapy

Ms Rhonda P Buyers
Executive Director,
National Gaucher Foundation
4106 Idlewood Parc Ct
GA 30084

Ms Buyers has worked for the National Gaucher Foundation (NGF) for 10 years, as Director of Development and for the past 9-1/2 years as Executive Director. Her interests and concerns have evolved to include many other Lysosomal Storage Disorders. She has coordinated many programs with other genetic disease foundations, assisted them with their programs and has been an outspoken advocate on insurance issues relative to genetic diseases. Additionally the experiences she has gained have allowed her to serve on various boards.

Within the last few years, those interests led Rhonda to participate in GOLD and created a desire to further their missions and interests throughout the world.

Joe Clarke

Dr Joe T R Clarke MD PhD FRCPC
Hospital for Sick Children,
555 University Ave,
Ontario M5G1X8

Dr. Clarke is a Professor of Pediatrics at the University of Toronto and Director of the Genetic Metabolic Diseases Program at the Hospital for Sick Children in Toronto.

His MD is from the University of Alberta. He was a pediatrics resident at the Hospital for Sick Children in Toronto, then a research fellow at the Montreal Neurological Institute where he obtained his PhD in biochemistry from McGill University based on studies on Fabry disease. He is a Fellow of the Royal College of Physicians of Canada and a Fellow of the Canadian College of Medical Geneticists.

He was, for 11 years, Head of the Division of Clinical Genetics of the Hospital for Sick Children. He is currently a Senior Associate Scientist in the Research Institute of the Hospital. He chairs the Ontario Advisory Committee on Newborn and Childhood Screening. He is a member of the MPS I Medical Advisory Board and represents North America on the International MPS I Advisory Board.

He has advised various governments on matters relating to newborn screening and to the regulation and reimbursement for the treatment of rare diseases. He obtained his MSc in health policy at the University of Toronto in 2001.

His research interests include studies on lysosomal storage diseases. He has been principal investigator on a number of clinical trials exploring innovative approaches to the treatment of lysosomal diseases.

Dr. Clarke is author of over 150 peer-reviewed articles in scientific journals. He is author of A Clinical Guide to Inherited Metabolic Diseases

Professor Tim Cox
Professor of Medicine

University of Cambridge

Head of Department of Medicine
Honorary Consultant Physician
University of Cambridge NHS Hospitals Foundation Trust
Box 157, Level 5
Addenbrooke's Hospital
Cambridge CB2 2QQ

Dr Roberto Giugliani
Professor and Head
Medical Genetics Service
Hospital de Clinicas de Porto Alegre
Rua Ramiro Barcelos 2350
Porto Alegre - RS - 90035-903

Dr Giugliani is Professor at the Department of Genetics of Federal University of Rio Grande do Sul (UFRGS) and Chief of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil. Roberto Giugliani is a Medical Doctor, specialist in Clinical Genetics, obtained his MSc and PhD degrees at University of Sao Paulo and performed post-doctoral training in London, Genova and Paris. Has acted as President of the Brazilian Society of Clinical Genetics and President of the Latin American Society of Inborn Errors of Metabolism and Neonatal Screening. Roberto is presently Researcher level I A (top) of Brazilian Council for Development of Science and Technology, Director of the WHO Collaborating Center for the Development of Genetic Services in Latin America and President of Latin American Network of Human Genetics (RELAGH). He is a member of 13 scientific societies, has supervised the postgraduate studies of 45 MScs and PhDs and has 165 papers published, most of them in international journals.

Dr Gregory Grabowski MD
Lysosomal Disease Centre of Children's Hospital Medical Centre of Cincinnati
Division and Program in Human Genetics
Children's Hospital Medical Center
3333 Burnet Avenue
Cincinnati, Ohio 45208 USA

Gregory A. Grabowski earned his medical degree at the University of Minnesota Medical School in Minneapolis. He continued his training at the University of Minnesota, where he completed a residency in pediatrics and a fellowship in molecular genetics. He is certified by the ABMG in clinical, biochemical and molecular genetics. Dr. Grabowski is Director of the Division of Human Genetics at the Cincinnati Children’s Hospital Medical Center and Professor of Microbiology, Biochemistry, and Pediatrics at University of Cincinnati College of Medicine in Cincinnati, Ohio.

Dr. Grabowski is widely recognized in the medical community for his expertise on genetic diseases and is considered one of the world’s foremost authorities on Gaucher disease. He is the recipient of NIH Awards in Individual Fellowship and Research Career Development. In addition, the National Gaucher Foundation bestowed him with the Excellence in Research in Gaucher Disease Award. Dr. Grabowski is a member of numerous advisory boards, including those at the International, National, and State levels.

Dr. Grabowski’s research interests include lysosomal storage diseases, the study of enzyme therapy in genetic diseases, and predictive genotyping. He has authored more than 230 scientific publications. He is a regular reviewer of 10 different medical journals, including the Journal of Clinical Investigation and the American Journal of Human Genetics. Dr. Grabowski also serves as an associate editor for biomedical genetics for Molecular Genetics and Metabolism and Genetics in Medicine.

Dr John Hopwood
Professor and Head
Biochemical Genetics Services and Lysosomal Diseases Research Unit
Department of Genetic Medicine
Children, Youth and Women's Health Service
72 King William Road
North Adelaide

Dr Hopwood’s Lysosomal Diseases Research Unit pioneered the purification of a number of lysosomal enzymes and cloned the relevant genes. Recombinant enzymes produced from these genes demonstrated the efficacy of enzyme replacement therapy in animal models of LSD and encouraged companies to invest heavily to develop effective therapies. The LDRU provides a sophisticated diagnostic service for patients affected by LSD and has developed methods to screen newborns for LSD to enable early therapy by enzyme, gene replacement and other methods.

John is a major contributor to the establishment of Lysosomal Diseases Australia, GOLD and Howard Florey Lysosomal Diseases Therapeutic Centre. He was awarded the Order of Australia in 2004 for service to biomedical research in lysosomal diseases.

Mr Jeremy Manuel, OBE
Manuel Swaden Solicitors

340 West End Lane

Jeremy Manuel co-founded the UK Gauchers Association in 1991 and remains its national Chairman. He was also a founding member of the European Gaucher Alliance which is an umbrella organisation of European Patient Groups. He is further a Trustee of the Helen Manuel Foundation a Charitable Trust established to raise funds for research into Gauchers disease.

Through his work with the Association Jeremy has represented the interests of Gauchers patients both in the UK and abroad to clinicians, scientists, government and industry. AS well as being co-opted to the GOLD Management Council Jeremy is a patient representative to the UK Department of Health National Specialist Commissioning Advisory Group’s Expert Committee on Lysosomal Storage Disorders.

Jeremy is a practising Lawyer and an accredited Commercial Mediator. He was awarded the Freedom of the City of London in 1994 and an OBE in the Queens New Year Honours List 1999 for services to the Gauchers Disease and is a Fellow of the Royal Society of Arts.

Dr Mark Sands
The Sands’ Laboratory
Washington University School of Medicine
Dept Internal Medicine
Box 8007, 660 South Euclid Avenue
St Louis, MO 63110Swaden Solicitors

340 West End Lane

I have been studying lysosomal storage diseases (LSDs) for over 17 years and currently have a research laboratory at Washington University School of Medicine (St Louis, MO, USA). The goals of my laboratory are to both better understand the underlying pathophysiology of LSDs and develop effective therapies for this class of inherited metabolic disorder. We have uncovered and characterized several unique characteristics of these diseases.

We discovered that the MPS VII mouse has an immune defect likely caused by incomplete or inefficient antigen processing. We also showed that there is an osteoclast defect contributing to the skeletal disease. Finally, we recently discovered a significant adipose deficiency that is common to at least five mouse models of different LSD. Although the molecular mechanism is not yet know, these data suggest that nutritional intervention may affect, possibly slow the progression of these diseases.

In addition to studying the pathogenesis of LSDs, we have also explored the use of enzyme replacement, bone marrow transplantation, gene therapy and a combination of these approaches for the treatment of these diseases. We have made progress towards treating both the systemic and central nervous system disease in several models, including MPS VII, Infantile Batten disease, and Globoid-Cell Leukodystrophy.

I fully support the objectives of GOLD and firmly believe that an umbrella organization representing all of the LSDs is the most efficient way to increase awareness of these diseases and drive research towards a cure.

M Scarpa

Dr Maurizio Scarpa
Department of Pediatrics
University of Padova, Centre for Rare Disorders
Via Giustiniani 3
35128 Padova

Dr Steven U. Walkley
Professor of Neuroscience, Pathology and Neurology and Director
Sidney Weisner Laboratory of Genetic Neurological Disease
Department of Neuroscience
Rose F. Kennedy Center
Albert Einstein College of Medicine
1410 Pelham Parkway South
Bronx, NY 10461 USA

Dr. Walkley combines skills in neuropathology and cellular neuroscience in order to address key issues in the study of pathogenic cascades involving the brain affected by lysosomal diseases. In addition to the cell biology and pathogenesis of storage disorders, his laboratory is also focused on studies examining potential treatment strategies for these diseases, including cell-mediated approaches as well as substrate reduction therapy. He serves on the scientific advisory boards of three lysosomal disease groups - the National Niemann-Pick Disease Foundation (for which he is chair of the SAB), The National MPS Society, and the International Society for Mannosidosis and Related Disorders.

Ms Barbara Wedehase
Executive Director,
The National MPS Society, Inc
PO Box 736
Bangor, ME 04402-0736

Ms Wedehase began her career in genetics as a social worker before becoming a Board Certified genetic counsellor. As a Clinical Assistant Professor of Pediatrics in the division of Genetics and Metabolism at the University of North Carolina, she worked for over 20 years with families who had metabolic disorders.

As Executive Director of the MPS Society, Ms Wedehase administers the growth and development of the Society’s Family Support programs, yearly conferences, research funding initiatives, educational materials and strategic plan, and collaborates with researchers and pharmaceutical companies to facilitate ready access of information to families. She is also on the Executive Committee of the Lysosomal Storage Disease Research Consortium, a funding partnership with the National Institutes of Health, offering grants addressing the Neurological aspects of LSDs.

Dr David Whiteman
Principal Medical Director
700 Main Street,
Cambridge, MA, 02139

Dr. Bryan Winchester
Emeritus Professor of Biochemistry
UCL Institute of Child Health at Great Ormond Street Hospital

University College London
30 Guilford Street
London WC1N 1EH

Dr Winchester obtained a Ph.D. in molecular enzymology in the Biochemistry Department at University College London after graduating from Cambridge University in Chemistry. Subsequently he became a lecturer in Biochemistry at Queen Elizabeth College (QEC), London University, where he developed his interest in lysosomal storage diseases and glycobiology working with Don Robinson. He stayed at QEC for 22 years before moving to the Institute of Child Health (University College London) at Great Ormond Street Hospital in 1988, as successor to Des Patrick. During his time at QEC, Bryan spent a sabbatical year working with Bob Jolly in New Zealand on animal models of the LSD’s and a shorter period with Peter Dorling in Australia working on the biological effects of the amino sugar, swainsonine. The latter project led to a long-standing collaboration with George Fleet in Chemistry at Oxford University, UK. He also spent short periods working with Arnold Reuser in Hans Galjaard’s laboratory, with Joseph Tager in the Netherlands and with Chris Warren and Peter Daniel in Boston, USA. At the Institute of Child Health, Bryan was responsible for direction of the Enzyme Diagnostic Laboratory and for the research infrastructure for a team of paediatric metabolic physicians and scientists investigating the molecular basis and developing novel forms of therapy for genetic metabolic diseases. His own research concentrates on the lysosomal storage diseases and another group genetic metabolic diseases, the congenital disorders of glycosylation. He is Chairman of the European Study Group on Lysosomal Diseases and of the UK Lysosomal Storage Diseases Management Group.

Dr John Yee
VP, Global Medical Affairs, Lysosomal Storage Diseases,
500 Kendall St, 8th Floor
MA 02142, USA

Dr. Yee serves as Vice President, Global Medical Affairs at Genzyme Corporation in Cambridge, Massachusetts. He is responsible for overseeing the Gaucher Registry, Fabry Registry, Pompe Registry and MPS-1 Registry, and other post-marketing medical activities in support of Genzyme’s portfolio of enzyme replacement therapies for lysosomal storage disorders.

Previously, Dr. Yee served as a faculty member at Harvard Medical School and Children’s Hospital in Boston. He completed his undergraduate degree in the history of science at Harvard College, his medical degree at Harvard Medical School, and a master’s degree in public health from the Harvard School of Public Health. He completed his pediatric residency and fellowship training at Children’s Hospital in Boston

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