Jaume Campistol, Department of Pediatric Neurology and Professor of Pediatrics at Barcelona University.
He obtained his medical degree in 1974 from Barcelona University and subsequently carried out medical residencies in Pediatrics and Neuropediatrics at the Hospital Sant Joan de Déu in Barcelona. Dr Campistol is a member of the Iberoamerican Academy of Child Neurology, the International Child Association and of the Sociéte Européenne de Neurologie Pediatrique. He is a former President of the Spanish Society of Child Neurology and of the Sociéte Européenne de Neurologie Pediatrique. Dr Campistol is currently editorial board member of the journals: European Journal of Pediatric Neurology, Revista de Neurologia, Epileptic Disorders and Anales Españoles de Pediatria. He is author of numerous articles in peer-reviewed journals and holder of ten ongoing research awards in epileptic disorders and neurometabolic diseases. The research field are related in the PKU disease with special interest with the neurologic manifestations and the treatment with BH4. On the other diseases he works with his group of research : neurotrasnmitter diseases and specially with the creatina deficiency syndromes. He published more than 150 papers in intenational journals.

Cornelis Jakobs, Metabolic Laboratory of the Departments of Pediatrics and Clinical Chemistry of the VU University Medical Center, Amsterdam
Cornelis Jakobs studied chemistry and made a Master in analytical and inorganic chemistry. In 1973 he worked in the mass spectrometry lab at the University Children's Hospital of the Free University of West-Berlin. There he started to establish the diagnostic procedures by gas chromatography – mass spectrometry (GC-MS) for organic acids and fatty acids and became involved in the in vivo stable isotope studies. In 1980 he reported the discovery of a new inborn error of metabolism: 4-(gamma)-hydroxybutyric aciduria due to succinic semialdehyde dehydrogenase deficiency, the first proven inherited defect in GABA metabolism. In 1981 he became a research in the University of California. He developed new methods for the prenatal diagnosis of organic acidurias by quantitation of specific metabolites in amniotic fluid by stable isotope dilution GC - MS techniques. In 1982 he became Head of the Metabolic Laboratory of the Departments of Pediatrics and Clinical Chemistry of the VU University Medical Center, Amsterdam. In 1983 he defended his thesis (Contribution to the prenatal diagnosis of inherited metabolic disorders: analysis of metabolites in amniotic fluid) at the State University of Utrecht. In 1987 he was nominated Associate Professor of Clinical Chemistry and Pediatrics at the VU University Medical Center, Amsterdam.

Stefan Kolker, Division of Inherited Metabolic Diseases, Heidelberg
Dr. Stefan Kolker developed research on the “Pathophysiology of cerebral organic acidurias” and the “Cerebral organic acidurias and energy metabolism”. Since 2003 he’s coordinator of the observational clinical studies on glutaric aciduria type I and other organic acidurias and of the International guideline group for glutaric aciduria type I. Dr. Stefan is since 2007 Scientific Coordinator of the Division of Inherited Metabolic Diseases in Heidelberg and since 2009 leader of the study group of the Interdisciplinary Centre for Neurosciences. In 2010 he became coordinator of the “Centre for Metabolic Medicine” within the Centre for Rare Diseases University Medicine Heidelberg and in 2011 coordinator of the European consortium “European registry and network for intoxication type metabolic diseases (E-IMD)”. Dr. Stefan Kolker received the Young scientists’ award of the Gesellschaft für Neuropädiatrie e.V. (Society for Neuropediatrics) in 2002 and the Horst Bickel Award in 2007.

Angela T. S Wyse, Department of Biochemistry of the Health Basic Sciences Institute (ICBS) at the Federal University of Rio Grande do Sul, Brazil.
Dr. Angela T.S. Wyse, obtained a Master in Biological Science – Biochemistry from the Federal University of Rio Grande do Sul and subsequently carried out her PhD in Biological Science – Biochemistry at the Federal University of Paraná-Brazil. Since 1998 she has been an Associate Professor of Biochemistry Department of the Health Basic Sciences Institute (ICBS) at the Federal University of Rio Grande do Sul (UFRGS), where she has supervised 9 PhD and more than 20 Master students, some of whom currently hold academic research positions in universities in Brazil. Currently she is supervising many post-graduate students. She is member of several Academies of Science in Brazil. Her research work is focused on metabolic disease with special interest in hyperhomocysteinemia/ hypermethioninemia and hyperprolinemia. Her research employs multiple experimental approaches that range from neurochemistry (oxidative stress, energy metabolism, excitotoxicity, cholinesterases) to behavioral, usually employing chemical experimental models through administration and/or intracerebral microinfusions of metabolites and assaying its effects upon different biochemical parameters, and, in particular, behavioral performance in different tasks. She also has investigated the role of some neuroprotectors such as antioxidants, creatine and physical exercise on behavioral and/or neurochemical impairment. She has published more than 200 scientific papers in referred journals and since 2005 her papers have received many citations.

Carlo Dionisi-Vici, Rome
Carlo Dionisi-Vici is head of the Division of Metabolic Diseases at the Bambino Gesú Childern's Hospital in Rome.
He graduate in medicine at the university "La Sapienza" in Rome and became a pediatrician. Carlo Dionisi-Vici had been researcher at the Chemische Zentrallabor at the Inselspital in Switzerland and resident at the Unité des maladies metaboliques at the Hôpital Necker-Enfants Malades in Paris.
Since 1999 he's director of the Lab. unit for the diagnosis of metabolic diseases at the Bambino Gesú Childern's Hospital.

Salvatore Di Mauro, N.Y.
Prof. Salvatore DiMauro was born in Verona, Italy, graduated in medicine from the University of Padua and completed his residency in neurology in 1966. He then completed a postdoctoral fellowship in the Department of Neurology at the University of Pennsylvania. His research focuses on genetic errors of energy metabolism and he defines disease entities using both biochemical and molecular approaches. As an "enzyme defect hunter", DiMauro has documented the molecular basis of many enzyme deficiencies, including carnitine palmitoyltransferase deficiency, the first error of fatty acid oxidation to be recognized in humans. With colleagues at the University of Pennsylvania in the 1970s, DiMauro studied the second patient ever with Luft's disease, the prototypical (though also the rarest) mitochondrial disease. He is a Professor of Neurology at Columbia University, director of the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Associate Chair of Related Diseases for Laboratory Research and Training. He is a trustee on the United Mitochondrial Disease Foundation. Prof. DiMauro has scores of publications. He also has several books to his credit. His last book is titled Mitochondrial Medicine and was published in 2006.

Jaak Jaeken, Leuven
Jaak Jaeken is doctor in Medicine and holds a PhD by the University of Leuven. He is also Doctor Honoris Causa by the University of Zurich and the University of Havana. Doctor Jaeken began is Professional experience in the University of Leuven having training in paediatrics, where he had been resident. Meanwhile he began his research work with a fellowship in metabolic diseases in the Department of Paediatrics of the University of Zurich. Since 1980 Jaak Jaeken is head of the Division of Metabolic Diseases in the university of Leuven. He is also Emeritus Professor at the Faculty of Medicine of the University of Leuven and member of several international societies such as the Society for the Study of Inborn Errors of Metabolism, the European Society for Paediatric Research, the International Child Neurology Association and many others. Jaak Jaeken is author of about 500 publications and received several awards and honours.

Stephane Fourcade, Barcelona
Stéphane Fourcade is a Post-doctoral research on the Fundación IDIBELL – Institut d’Investigació Biomédica de Bellvitge on the Neurometabolic disease laboratoty. Fourcade has master from University Victor Segalen Bordeaux2, INSERM U441, and a PhD by the Laboratoire de Biologie Moléculaire et Cellulaire, University of Burgundy, Dijon. In 2003-2004 he had a Postdoctoral fellow at the IGBMC, Human Molecular Genetics Department in Strasbourg, France. Since 2005 he is at the IDIBELL, L'Hospitalet de Llobregat, Barcelona, Spain.

Pedro Brites, Nerve Regeneration Group, Institute for Molecular and Cell Biology - IBMC, Porto
Dr. Pedro Brites, PhD in Medicine from the University of Amsterdam, is a Postdoctoral researcher at the Nerve Regeneration Group (head Dr. Mónica M. Sousa, PhD) at IBMC, Porto, Portugal. He is presently the PI of a research project funded by the European Leukodystrophy Association entitled "Developing, characterizing and rescuing animal models of leukodystrophies: role of plasmalogen in mitigating oxidative stress" and of a project accepted for funding by the Fundação para a Ciência e Tecnologia (FCT) entitled "Consequences and mechanisms behind plasmalogen deficiency". His area of scientific activity is: Inborn errors of metabolism; Neurobiology and Biochemistry; Myelination of central and peripheral nervous system; Muscle innervation; Cell biology of peroxisomes; beta- and alpha-oxidation of fatty acids; Biosynthesis of ether-phospholipids; Mouse models for human disorders.

Mia Horowitz, Tel Aviv University
Dr. Mia Horowitz, B.Sc in Biology, made a master in genetics on the “Inactivation of the phage ?X174 by alkylating agents” and obtained her PhD by The Weizmann Institute of Science for her “Studies on the formation and processing of SV40 and polyoma RNAs”. Dr. Mia has a post-doc fellow at MIT Ctr for Cancer Research and developed research activities at the Wiezmann Institute of Science. Dr. Mia is now professors at the Tel Aviv University and Head of the department of cell research & immunology at the same university. Dr. Mia Horowitz awarded the Incumbent of the Charles Revson Career Development Chair and the Incumbent of the Levinson Prize in Biology both by The Weizmann Institute of Science. She also received the M. Gruto Prize by the Teva/Israel Academy of Sciences and Humanities and the Alschwang Prize administered by the Custodian-General.

Volkmar Gieselman, Institute of Physiological Chemistry, Rheinische Friedrich Wilhelms Universität, Bonn
Prof. Volkmar Gieselmann, doctorate in medicine by the University of Münster, Department of Occupational Health, had a postdoctoral fellowship in the Institute of Biochemistry at the University of Münster. He worked as medical doctor in the Department of Hematology of the University of Münster and was Stipend of the DFG, Harvard Medical School, and Department of Genetics. From 1988 to 1994 Volkmar Gieselmann had developed his research at the Department of Biochemistry of the University of Göttingen and in 94 he became associate professor at the University of Kiel. Since 1999 he’s a full professor of Biochemistry at the University of Bonn. Prof. Volkmar Gieselmann received in 2008 the Eva Luise Köhler Award for Research in Rare diseases.

Jakub Tolar, Minnesota
Dr. Tolar is an Associate Professor of Pediatrics at the University of Minnesota in the Division of Hematology-Oncology and Blood and Marrow Transplantation, and attends on both the Pediatric Hematology Oncology and the Pediatric Blood and Marrow Transplantation service. He received his M.D. from Charles University in Prague, Czech Republic, and his Ph.D. in Molecular, Cellular, Developmental Biology and Genetics from the University of Minnesota. He completed a residency in Pediatrics and a fellowship in hematology/oncology and bone marrow transplantation at the University of Minnesota. He is board certified in Pediatrics and Hematology/Oncology. Dr. Tolar serves on the Program Committee and Non-Immune Cytopenias Committee of the American Society of Pediatric Hematology/Oncology since May 2004. Dr. Tolar's research focuses on the use of bone marrow derived stem cells and Sleeping Beauty transposon gene therapy for correction of genetic diseases and improving outcome of blood and marrow transplantation.

Jean Marie Saudubray, Paris
Jean-Marie Saudubray is Emeritus professor of Pediatrics and Expert metabolic consultant at the adult neuro-metabolic unit in the Hopital La Pitié Salpétrière from the Université Pierre et Marie Curie in Paris. He is also executive Editor of the North American Metabolic Academy training program and member of the Scientific Committee of Orphan Europe Academy. From 1976 to 2007 he was head of the Pediatric service of Metabolism, Genetics and Neurology in the Dept. of Pediatrics at the Hopital Necker - Enfants Malades in Paris. Jean-Marie Saudubray received several awards such as the Grand Prix Electricité Santé, the Grand Prix Fondazione Maria Vilma e Bianca Querci, the Grand Prix Claude Bernard de la Ville de Paris. He is author of several books among them Inborn Metabolic Diseases: Diagnosis and Treatment from Springer and has about 420 original papers on diagnosis and treatment of inborn errors of the metabolism.

Marjo S. van der Knaap,

Marjo van der Knaap was trained in Adult and Child Neurology. She wrote a PhD thesis on MRI and MRS of myelination and white matter disorders, 1991. In 1999 she became professor of Child Neurology, VU University Medical Center, Amsterdam. She is co-author of the book: Van der Knaap MS, Valk J. Magnetic resonance of myelination and myelin disorders. 1st, 2nd and 3rd edition. Springer, Heidelberg, 1989, 1995 and 2005. She is co-author of many papers in international scientific journals and received numerous research awards. Her research is focused on MRI of leukoencephalopathies, especially inherited childhood leukoencephalopathies. She developed MRI pattern recognition for those disorders to facilitate the diagnostic process. When it became clear that at least 60% of the children with a leukoencephalopathy remains without a specific diagnosis, her studies became focused on these unclassified leukoencephalopathies. She defined multiple novel disorders, using MRI criteria. Her research group has identified the genes related to several of these disorders. Subsequent studies are focused on disease mechanisms and development of treatment.

Ron Wevers, Nijmegen

João Arriscado Nunes, Porto
João Arriscado Nunes is Professor of Sociology at the School of Economics and Senior Researcher at the Center for Social Studies, University of Coimbra, Portugal, He is co-coordinator of the Doctoral Program “Governance, Knowledge and Innovation). His research interests include social studies of science and technology (namely social studies of biomedicine, health and the life sciences and public engagement with science and technology), political sociology (democracy and participation) and social theory. Currently, he is Principal Investigator of the projects “Science Engaging Society: Life Sciences, Social Sciences and Publics” (BIOSENSE) and “Evaluating the State of Public Knowledge on Health and Health Information in Portugal” (Harvard Medical School – Portugal Program), both funded by the Foundation for Science and Technology of the Portuguese Ministry of Education nd Science, and a member of the Steering Committee of the project “European Patient Organizations in the Knowledge Society” (EPOKS), funded by the European Commission (Science and Society Program) and of the European Neuroscience and Society Network - European Science Foundation. He co-edited The Dynamics of Patient Organizations in Europe (Paris: Presses de l’École des Mines, with Madeleine Akrich, Florence Patterson and Vololona Rabeharisoa)

Paula Silva, Porto
Born in Porto in 1963. Graduation and MsC in Sociology at Faculty of Humanities, University of Porto, in 2004 and 2009, respectively. Bachelor and Graduation in Cytology, Tanathology and Pathologic Anatomy at School of Health Technology of Porto in 1995 and 2001, respectively. Senior technician at Faculty of Medicine, University of Porto. Student of the Doctoral Programme "Governance, Knowledge, and Innovation" at School of Economics, Coimbra University and organized by the Centre for Social Studies (CES). Current research interests are Oncobiology and Sociology of Health. PI of the project “Knowing disease: patients first”, funded by Calouste Gulbenkian Foundation in collaboration with the Institute of Molecular Pathology and Immunology at the University of Porto (IPATIMUP) and the Centre for Social Studies (CES, Associate Laboratory, University of Coimbra).