David Eckland, BSc MB PhD FRCP

Chairman SAB

Dr. Eckland has been head of metabolic disease clinical research at GSK. His experience ranges from preclinical stages to post marketing studies. He has worked in senior positions (managing director of Takeda Europe R&D, and R&D director, Ark Therapeutics), where he developed pioglitazone, among other drugs. Dr Eckland has covered many therapeutic areas, including oncology, rheumatology, cardiovascular, urology and metabolic disease. He has supervised numerous phase IV clinical trials, interacting with commercial and business development colleagues. He has also lectured on clinical trial design at University College, London.

Patrick Aubourg, MD

Clinical Expert

Dr. Aubourg is professor of pediatrics at the Medical University Paris-Sud (France), head of the Pediatric Neurology Department at the Hospital Bicêtre (Le Kremlin Bicêtre, France) and director of Inserm Research Unit UMR1169 at the Medical University Paris-Sud/Paris Saclay University (France). He is a member of several networks aiming to develop new therapeutic approaches in neurodegenerative diseases, in particular in the field of leukodystrophies.

Florian Eichler, MD

Clinical Expert

Dr. Eichler is associate professor of neurology at Harvard Medical School (USA), assistant in neurology at Massachusetts General Hospital, director of the Leukodystrophy Clinic and director of the Center for Rare Neurological Diseases. Dr. Eichler studies monogenetic lipid metabolism disorders of the nervous system at the Massachusetts General Hospital and Harvard Medical School. His research focuses on the genetics of peroxisomal disorders, lipid metabolism and spatial aspects of nuclear magnetic resonance spectroscopy. Current projects include analyzing metabolic changes seen in the brain by MR measures and determining the neurotoxicity of newly discovered atypical sphingolipids.

Marc Engelen, MD

Clinical Expert

Dr. Engelen received his MD from the University of Amsterdam (The Netherlands) in 2002. He trained as a neurologist and subsequently specialized in pediatric neurology at the Academic Medical Center (AMC) in Amsterdam. He obtained his PhD on adrenoleukodystrophy in 2012. He is currently a member of the medical staff in the Department of Neurology and the Department of Pediatrics. He has a special interest in peroxisomal disorders; the AMC was recently designated the national expert center for this group of diseases. In 2014 he received a Veni grant from NWO (The Netherlands Organisation for Scientific Research) to study the natural history of adrenoleukodystrophy and identify predictive biomarkers in the onset of cerebral ALD.

Gerald Raymond, MD

Clinical Expert

Dr. Raymond received his medical degree from the University of Connecticut (USA). He trained in pediatrics at Johns Hopkins University and in neurology at Massachusetts General Hospital. He completed his training in clinical genetics at Harvard University. Dr. Raymond is a pediatrician, a geneticist and a neurologist with a special interest in developmental and neurogenetic disorders affecting children and adults. He is currently working at the University of Minnesota Masonic Children’s Hospital. Dr. Raymond’s work focuses on the diagnosis, care and treatment of all aspects of ALD and other peroxisomal disorders. Recently, he has advanced newborn screening of ALD and clinical trials on the natural history and treatment of all aspects of ALD.

Joan Aymamí, PhD


Dr. Aymamí is one of the pioneers in the field of bio-entrepreneurship in Spain. He led Crystax Pharmaceuticals as Founding Manager since its foundation on 2002 until it was acquired by Oryzon Genomics. This merger has been one of the main operations of Spain’s biotech sector. Furthermore, Joan has a long and successful career in the field of Structural Biology, working for first class institutions such as University of Cambridge, MIT and Institute of Cancer Research as well as co-authoring numerous publications and patents. Currently, Joan is a scientist at Universitat Politecnica de Catalunya.

Xavier Badia, MD MPH PhD

Pricing, Market Access, Health Economics & Outcomes Research

Dr. Badia is an entrepreneur and business leader medically and economically qualified, specialized on the field of rare diseases and niche diseases (mainly oncology, endocrinology, metabolic and pediatric) from the clinical and economic perspective. He started as head of research at the Catalan Institute of Public Health, and has held different positions both in the public and private sectors with a variety of Senior Executive and Leadership roles, providing strategic advice and research in P&R, Market Access, Health Economics and Outcomes Research, and creating value based products to treat rare disease in the EU and US markets. He is an active member of ISPOR rare disease Special Interest Group and Advisor of the Spanish Rare Disease Registries Research Network of the Instituto Carlos III. He has published more than 200 scientific articles.

Massimo Pandolfo, MD

Clinical Expert

Dr. Pandolfo is professor of neurology and director of the Laboratory of Experimental Neurology at the Université Libre de Bruxelles (ULB) in Brussels, Belgium. He is a fellow of the American Academy of Neurology (AAN) and of the European Academy of Neurology (EAN) and former president of the Belgian Neurological Society. He has published over 200 peer-reviewed articles in neurogenetics and clinical neurology. Dr. Pandolfo led the team that identified the Friedreich’s Ataxia (FRDA) gene in 1996 and has since been at the forefront of basic, translational and clinical research on FRDA. He is the coordinator of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS). In addition to his seminal work on FRDA, Dr. Pandolfo has provided many important contributions to the general field of neurogenetics. He has been involved in multi-investigator translational programs and a principal investigator on several clinical trials. Dr. Pandolfo’s current research focuses on dissecting the pathogenesis of inherited Ataxias and on the development of small molecule and gene therapy-based approaches for the treatment of FRDA and other neurodegenerative diseases.  Dr. Pandolfo obtained his medical degree from the University of Milan, Italy, where he also completed his residency in neurology. At the start of his career he was assistant professor of neurology at the National Neurological Institute C. Besta in Milan and at Baylor College of Medicine in Houston, TX, then associate professor at the Université de Montréal and adjunct professor at McGill University.

Fanny Mochel, MD PhD

Clinical Expert

Dr. Mochel is an associate professor of genetics at the University Pierre and Marie Curie (UPMC). She received her MD in genetics in 2005 at the University Paris Descartes and her PhD in neuroscience in 2010 at UPMC. Dr. Mochel leads the French reference center on neurometabolic diseases in adults and runs a neurometabolic research group at the Brain and Spine Institute of La Pitié-Salpêtrière University Hospital in Paris. She is co-chair of the French society for inborn errors of metabolism in adults and a council member of the Society for the Study of Inborn Errors of Metabolism. Dr. Mochel has developed robust magnetic resonance methodologies for assessment of brain metabolism. Her team has developed a unique expertise in the study of metabolic regulation in patients, both in the periphery and in the brain, combining metabolomics on body fluids and in vivo nuclear magnetic resonance spectroscopy. Likewise, Dr Mochel has identified biomarkers reflecting metabolic dysfunction in neurodegenerative diseases, such as Huntington disease, that can be corrected by drugs targeting the Krebs cycle, also called anaplerotic therapies. She has conducted similar biomarkers studies in patients with spinocerebellar ataxia type 1-2-3 and 7 and used novel methods of multimodal integration to model disease progression. Her team is currently applying a unique combination of structural (i.e. fiber tracking using fixel-based analysis), functional (i.e. resting state functional MRI using novel whole-brain network estimation method) and metabolic (i.e. highly standardized 1H and 31P magnetic resonance spectroscopy) imaging in neurogenetic (e.g. Huntington’s disease) and neurometabolic (e.g. adrenomyeloneuropathy) diseases in order to further characterize and treat metabolic dysfunction in disorders affecting the nervous system.