Dr. Marjan Huizing is a basic scientist with a background in cell biology of metabolic disorders. She received a MSc degree in molecular life sciences at Wageningen University and a PhD degree in medical sciences (mitochondrial transmembrane carriers in mitochondriopathies) from Radboud University Medical Center, Nijmegen, The Netherlands. She then joined the team of Dr. William Gahl (NICHD and NHGRI, NIH, Bethesda, USA) for a postdoctoral fellowship in human biochemical genetics, after which she headed the Cell Biology of Metabolic Disorders Unit, NHGRI, NIH. She currently works as a clinical project manager and staff scientist (NHGRI, NIH), performing translational-preclinical research and is co-investigator in early stage clinical trials. Over the years, Dr Huizing studied the genetic and cellular bases of disease and evaluated therapies (in vitro, in vivo). Her special interests include human disorders of lysosome-related organelle biogenesis and sialic acid metabolism. Such disorders include Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, sialuria, GNE myopathy, SALLA/ISSD disease and certain glomerular diseases.