Medical & Scientific Advisory Board
The Global DARE Foundation is fortunate to have an advisory board made up of the foremost researchers and clinicians in the field of Refsum Disease, peroxisomal disorders and Retinitis Pigmentosa. In their roles as medical and scientific advisers, members collaborate with each other and with our Board of Directors to drive forward better quality of life for those diagnosed with Refsum Disease.
Focused Medical & Scientific objectives will ensure success
Treatment & Care
Develop, publish and maintain treatment guidelines for the care of Refsum patients
Yearly updates to the diet and nutrition guidelines
Publish guidelines on how to best eat and exercise to minimize fat burning
Participate in the educational activities of DARE including assistance with content on the website and other outreach opportunities
Provide advice and recommendations to the DARE Board on short-term and long-term planning for better therapeutic approaches and a potential cure for Refsum
Assist the DARE board in the review of scientific proposals for support and funding
Collaborate in establishing a patient registry and Natural History Study for Refsum
Recommend research on nutrition, diet and physical activity (e.g phytanic acid in food, exercise, fat mobilization)
Advocate within the research and medical field for focused work on areas that may improve the quality of life of patients diagnosed with Refsum.
Assist DARE in interactions and connections with sponsors and industry.
Help plan, promote, and generate presentations for webinars and conferences.
Promote and expand cooperation with other research and rare disease organizations
Raising awareness with the medical community to promote earlier diagnosis of Refsum Disease
Medical & Scientific Advisory Board
Florian Eichler, MD - MSAB Chair
Dr. Eichler is an Associate Professor of Neurology at Massachusetts General Hospital (MGH) and Harvard Medical School. His career has been dedicated to advancing the care and treatment for devastating neurogenetic conditions. Dr. Eichler runs a laboratory at MGH that explores the relationship of mutant genes to specific biochemical defects and their contribution to neurodegeneration. In 2009 the laboratory identified two neurotoxic desoxysphingoid bases that accumulate in mutant transgenic mice and humans with HSAN1. For this work Dr. Eichler received the Wolfe Neuropathy Research Prize from the American Neurological Association. This has further led to a first clinical trial of substrate supplementation therapy for patients with HSAN1. In 2015, he became Director of the Center for Rare Neurological Diseases at MGH. The Center aims to eradicate rare disorders of the nervous system by leveraging the power of biological insights towards design and implementation of clinical trials. Dr. Eichler is the principal investigator of several NIH-funded studies on neurogenetic disorders as well as a gene therapy trial of adrenoleukodystrophy that recently reported on first successful outcomes in the New England Journal of Medicine. Dr. Eichler also serves as chair of the Rare Disease Think Tank at MGH and is founder and president of the international consortium ALD Connect, a patient powered research network that is dedicated to curing adrenoleukodystrophy.
Ronald JA Wanders, PhD - MSAB Co-Chair
Prof. Dr. Ronald JA Wanders is Professor Emeritus Clinical Enzymology of Metabolic Diseases at the University of Amsterdam and was Head of the Laboratory Genetic Metabolic Diseases, Academic Medical Center, UMC Amsterdam until 01.02.2018. From the beginning his main research interest has been focused on the Metabolic Functions of Peroxisomes in Health and Disease with a special interest for Zellweger Syndrome and Refsum Disease later followed by additional active research areas including Mitochondrial Fatty Acid Oxidation Disorders and Amino Acid Degradation Disorders. He has published >1000 peer reviewed papers, his H-factor is >75, and 35 students did their PhD under his supervision. He has received numerous awards, gave >250 lectures worldwide and has been Member of a large number of national and international scientific Review Boards and patient organisations. After his formal retirement he continues to work in the Laboratory Genetic Metabolic Diseases on a project basis
Joseph G. Hacia, PhD - MSAB Co-Chair
Joseph G. Hacia is an Associate Professor of Biochemistry and Molecular Medicine and Vice Chair for Medical Education at the Keck School of Medicine of the University of Southern California (USC). He earned his Ph.D. in Biology from the California Institute of Technology in Pasadena, CA and completed his postdoctoral work in Medical Genetics at the National Institutes of Health in Bethesda, MD.
Dr. Hacia has a long-term commitment to identify therapeutic interventions for peroxisomal disorders by participating in multi-institutional research collaborations while maintaining an independent laboratory at USC. He is active on advisory boards for the United Leukodystrophy Foundation, RhizoKids International, Global Foundation for Peroxisomal Disorders, and Global DARE Foundation.
Paul Watkins, MD, PhD
Dr. Watkins is Professor Emeritus of Neurology at the Johns Hopkins University School of Medicine, and was director of the Lipid Enzymology Laboratory at the Kennedy Krieger Institute in Baltimore, MD for 35 years. His research focused on human genetic diseases with defects in lipid metabolism, in particular the peroxisomal diseases which include adult Refsum disease. His laboratory investigated the normal pathway of phytanic acid alpha-oxidation and characterized the early enzymatic steps required for degradation of this toxic fatty acid. The lab was instrumental in the identification of phytanoyl-CoA alpha-hydroxylase, or PHYH, as the gene responsible for Refsum disease. He has collaborated with Prof. Wanders and Dr. Hacia on several aspects of phytanic acid metabolism and Refsum disease. Although formally retired, he is actively working with Drs. Braverman and Hacia to investigate therapeutic approaches in Refsum diseases and peroxisome biogenesis disorders. Laboratory Geneticist (Biochemical Genetics), is staff member of the Laboratory Genetic Metabolic Diseases, Amsterdam UMC, and has the daily supervision of the enzyme diagnostic section.
Radha Ramachandran, MD, PhD
Following successful completion of core medical training, and membership of the Royal College of Physicians’ UK examinations, Radha Ramachandran undertook her specialist training in Chemical Pathology and Metabolic Medicine at Imperial College Healthcare NHS Trust in London. She completed her sub-speciality training in Adult Inherited Metabolic Diseases training at the National Hospital for Neurology and Neurosurgery, Queen Square and Evelina Centre of Inherited Metabolic Diseases. During her training she was awarded the prestigious NIHR Doctoral Fellowship. Her doctoral research focussed on evaluation of current and novel biomarkers for neuroendocrine disease. She was appointed Consultant in Metabolic Medicine and Adult Inherited Metabolic Diseases (IMD) at the nationally commissioned Centre for Inherited Metabolic Diseases at Guys and St Thomas’ NHS Foundation Trust (GSTT) in Feb 2013 and was appointed Clinical Lead for the service in March 2017. She has been involved in caring for patients at the world renowned Refsum’s Disease Clinic at Chelsea Westminster Hospital in London since 2014. It has the largest cohort of patients with Adult Refsum’s Disease in the UK. In March 2019, the Adult Refsum’s Disease clinic was moved to be amalgamated with the Adult IMD service led by Dr Ramachandran at GSTT.
Anthony S. Wierzbicki, PhD
Professor Anthony Wierzbicki is consultant in metabolic medicine/chemical pathology at Guy’s & St. Thomas’ Hospitals and honorary Professor in Cardiometabolic Disease at King’s College, London. He has worked in the Refsum disease clinic at the Westminster later Chelsea & Westminster Hospital and now St Thomas’ Hospital since 1994. He has published 20 papers on Refsum disease and was a member of the EU FP7 RDDPT consortium that clarified much of the clinical, biochemical and genetic features of Refsum disease. He has 300 publications, 19 book chapters and written 1 book. He helped write the International guidelines on Familial Hypercholesterolaemia (2014) and the American Heart Association scientific consensus statement on Familial Hypercholesterolemia (2015).
Eleanor Baldwin, Clincial & Research Dietitian
Eleanor Baldwin graduated from Queen Margaret University, Edinburgh with a BSc in Nutrition & Dietetics. Clinical Dietitian for the Adult Refsum Disease Specialist Clinic at the Chelsea & Westminster Hospital, London (recently moved to St. Thomas’s Hospital) since 2003. Co-author of several research papers and textbook chapters on diet and adult Refsum Disease. Advisor to people with Adult Refsum Disease and the health professionals involved in their care in the UK and throughout the world since 2003.
Sarah Firman, Clinical Dietitian
Sarah Firman graduated with a Master of Dietetics from the University of Otago, New Zealand, beginning her career as a Renal Dietitian. Since 2017, Sarah has been working as a Clinical Dietitian in the Adult Inherited Metabolic Diseases team at St Thomas’ Hospital, London, supporting patients in the dietary management of a variety of Inherited Metabolic Diseases. In March 2019 the Adult Refsum Disease Specialist Clinic at Chelsea & Westminster Hospital integrated with the Adult Inherited Metabolic Diseases service at St Thomas’ Hospital where Sarah is now involved in providing dietary support to the largest cohort of patients with Adult Refsum Disease in the United Kingdom. Sarah was awarded an HEE/NIHR Pre-Doctoral Clinical Academic Fellowship in 2019 and is currently undertaking this part-time, alongside her continued clinical role.
Bart Leroy, MD, PhD
Bart Leroy is Head of the Department of Ophthalmology, and Staff Member at the Center for Medical Genetics at the Ghent University Hospital and Ghent University, where he has been working since 01/09/2001. He is Full Professor of Ophthalmology and Ophthalmic Genetics at Ghent University. Since August 2013, Bart also has a part-time position (20%) as an attending physician at the Division of Ophthalmology & Center for Cellular & Molecular Therapeutics at Children's Hospital of Philadelphia, Philadelphia, PA, USA. Bart is an ophthalmologist and clinical geneticist specialised in inherited eye disorders and systemic conditions affecting the eye. In collaboration with Profs J Bennett, AM Maguire and T Aleman at the University of Pennsylvania and Children’s Hospital of Philadelphia, Philadelphia, PA, USA, and the team in Ghent, Bart is involved in phenotyping and genotyping studies and gene therapy projects for inherited retinal blindness. In view of this latter work, he received a Senior Clinical Investigator grant of the Research Foundation - Flanders (Belgium) from 2010 to 2015 & 2015-2020. He is the (co-)recipient of 27 scientiﬁc grants and prizes. He is a member and Board member of several professional organisations, including the International Society for Genetic Eye Disease & Retinoblastoma and the Société de la Génétique Ophtalmologique Francophone and the Belgian Ophthalmological Society
Sacha Ferdinandussa, PhD
Sacha Ferdinandusse studied Medical Biology at the University of Amsterdam and did her PhD at the Laboratory Genetic Metabolic Diseases at the Academic Medical Center (Amsterdam UMC) under supervision of Prof. Ronald Wanders (thesis entitled ‘New insights in peroxisomal beta-oxidation’). She continued as postdoctoral researcher in the same laboratory first on a grant from the Dutch Research Council (NWO) on the role of peroxisomes in bile acid biosynthesis and then on a grant of the European Leukodystrophy Association (ELA) entitled ‘Role of phytanic acid in nervous system pathogenesis using mouse models for Refsum disease’. She is a registered Clinical Laboratory Geneticist (Biochemical Genetics), is staff member of the Laboratory Genetic Metabolic Diseases, Amsterdam UMC, and has the daily supervision of the enzyme diagnostic section.
Ann B. Moser, BA
Ann Moser is Associate Professor Emerita of Neurology at the Johns Hopkins University. Since 1961 Ann has been investigating lipid metabolism in inborn errors of metabolism together with her late husband, Dr. Hugo W. Moser. They developed the original methods for quantitation of very long-chain fatty acids (VLCFA) in plasma and cells by gas chromatography that are used to diagnose X-linked adrenoleukodystrophy (ALD) and related peroxisomal disorders. Together with her collaborators she also developed, tested, and validated the methodology for newborn screening of ALD by LC-MS/MS using punches from Guthrie blood spot cards. The ALD newborn screening assay, which measures the C26:0 content of lysophosphatidylcholine (C26-LPC), was approved in 2015 by the Secretary of Health and Human Services to be added to the newborn screening programs in all US states. In collaboration with the Jackson Laboratories, the LC-MS/MS measurement of C26-LPC and other complex lipids, and the GCMS measurement of total lipid fatty acids including phytanic acid are used to evaluate AAV9 therapy in the mouse models of ALD and the Zellweger spectrum disorders.
Although formally retired, Ann is actively collaborating with the Global DARE Foundation and has recently completed testing of phytanic acid, phytol and phytyl fatty esters in 60 food items. It’s been almost 30 years since initial phytanic acid testing in approximately 150 food items was published and formed the basis for a low phytanic acid diet critical to the management of Refsum Disease. Since then farming practices and food manufacturing processes have changed dramatically as well new precursors to phytanic acid have been identified. Updating previous testing and the potential to expand diet choices will increase the quality of life for people with Refsum Disease.
Nancy Braverman, MD, MS
Dr. Nancy Braverman is Clinical Biochemical Geneticist (American Board of Medical Genetics) who leads a bench-to-bedside research program including multidisciplinary collaborations in peroxisome biogenesis and related disorders for over 20 years with academic, family foundation and industry partners- together we are stronger. She is currently a Professor at McGill University, Departments of Pediatrics and Human Genetics, Division of Medical Genetics and Scientist at the Research iInstitute of the McGill University Health Center. Dr. Braverman is an international leader is the field of Peroxisome Biogenesis Disorders. In her laboratory, she focuses on translational research that can improve disease outcomes. Originally identifying PEX genes and their protein functions, she constructed novel animal models uniquely suited to study pathophysiology and treatment. She developed a successful drug screening platform in which several hit compounds were identified, and began a retinal gene therapy project. She is actively involved in the care of these patients, and developed a large international natural history study. She has won several awards for contributions in teaching and commitment to care, and has published over 100 peer reviewed articles.
Mousumi Bose, PhD
Dr. Mousumi Bose is the mother of Ilan Betzer (2010-2011), who was born with a severe form of Zellweger spectrum disorder (ZSD), a peroxisome biogenesis disorder. Through her experience with her son, Dr. Bose joined the Board of Directors for the Global Foundation for Peroxisomal Disorders (GFPD) and later joined as chair of the GFPD Scientific Advisory Board. Her work with the GFPD has resulted in the first GFPD research grant cycle as well as the first treatment guidelines for PBD-ZSD, which has shown to be an invaluable resource for families affected by ZSD. Dr. Bose is currently an assistant professor at Montclair State University in New Jersey in the Department of Nutrition and Food Studies. Her long-term goal is to combine her training in nutritional sciences with her knowledge and experience with peroxisomal disorders to help improve the quality of life for families affected by rare metabolic disorders.
Arthur Bergen, PhD
Prof Arthur A Bergen was born in 1961, in Voorburg, The Netherlands. He obtained educational degrees in Visual sciences, Molecular genetics and Ophthalmogenetics (PhD Leiden University). Since 1995, he has been heading the ophthalmogenetics research teams of the former Eye institute, the Neuroscience institute and the Academic Medical Hospital, all in Amsterdam. He is Professor in Ophthalmogenetics since 2004. Prof Bergen is (co-)authoring over 175 peer reviewed publications in the international literature, including mutiple manuscripts in leading journals such as New England Journal of Medicine, Nature Genetics, and American J Human Genetics. The aim of Prof Bergen’s group is to elucidate the molecular pathology of genetic eye disorders and to develop therapies for these diseases. In the past, his group successfully identified retinal disease genes (RP12, PXE and others), brought at least one disease (PXE) from gene mapping, gene identification, mouse model and functional characterisation toward now ongoing clinical trials, and made innovative molecular models for retinitis pigmentosa, age-related macular degeneration and glaucoma. His group is currently involved in a number of organoid, gene therapeutic and stem cell replacement studies for these disorders.