The laboratory of Molecular Stem Cell Biology1 at the Center for Lysosomal and Metabolic Diseases2, Departments of Clinical Genetics3 and Pediatrics4 of the Erasmus University Medical Center in Rotterdam, The Netherlands, embedded within the research school MGC (Medical Genetics Centre South West Netherlands and the Erasmus MC Graduate school5,6, is searching for a highly motivated candidate to join our group to develop lentiviral gene therapy for lysosomal storage diseases and to study the molecular mechanisms involved.
Lysosomal storage diseases are a group of ~50 genetic diseases in which one of the lysosomal enzymes responsible for degradation of macromolecules is defective. This results in accumulation of substrates in lysosomes, lysosomal pathology, and eventually cell death. Patients with a lysosomal storage disease have symptoms in multiple tissues and organs including the central nervous system, muscle, cartilage, bone, and visceral organs. We have developed hematopoietic stem cell-mediated lentiviral gene therapy for lysosomal storage diseases in animal models. We are now optimizing this therapy in preparation for a clinical trial and we are investigating the molecular mechanisms by which pathology is restored, with a focus on the central nervous system and passage of the blood-brain barrier.
We use a variety of techniques in the field of molecular biology, biochemistry, cell biology and pathology, including lentiviral gene transduction, bone marrow transplantations, immunofluorescent analysis, functional analysis of mobility and cognition, and genome-wide expression analysis including quantitative proteomic analysis. Our research has strong links with the clinic, in which patients are treated and assessed. We collaborate with Leiden University Medical Center and with various national and international partners and are member of the European Reference Networks EURO-NMD and metabERN.