Professor Ronald JA Wanders, PhD & Dr. Sacha Ferdinandussa, PhD from Academic Medical Center, UMC presented on the Science behind Refsum Disease

Adult Refsum disease is a metabolic disorder caused by a number of faulty genes (principally PHYH) which affect the pathway that degrades a plantderived chemical called phytol which some bacteria found in ruminant animals turn into Phytanic Acid. In humans if phytanic acid is not degraded it accumulates in nerves, liver and fat. Phytanic acid is not produced in the body but found in many foods. The highest concentration of phytanic acid is found in dairy products, beef, lamb and some fish.

Presenters from the Academic Medical Center, UMC Amsterdam:
Ronald JA Wanders, PhD 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 over 1000 peer reviewed papers, his Hfactor is over 75, and 35 students did their PhD under his supervision. He has received numerous awards, gave over 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.

Sacha Ferdinandussa, PhD 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 betaoxidation’). 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.

Learn more about Adult Refsum Disease at Global DARE Foundation's website: https://www.defeatadultrefsumeverywhe... If you have any questions please contact Global DARE Foundation at [email protected]