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 generated iPSC-based cell models from patients with lysosomal storage diseases, and we are recapitulating pathology in vitro
. These models are used to study the mechanisms by which enzyme deficiency leads to pathology, and for developing treatment options based on personalized medicine. In particular, we developed 3D-tissue engineered skeletal muscle on a chip and an innovative platform to measure contractile force in collaboration with the company Optics11.
We use a variety of techniques in the field of tissue engineering, molecular biology, biochemistry, cell biology and pathology, including cellular reprogramming to iPSCs, gene editing using CRISPR/Cas9, immunofluorescent and electron microscopy analysis, and genome-wide expression analysis including RNAseq and quantitative proteomics. Our research has strong links with the clinic, in which patients are treated and assessed. We collaborate with various national and international partners and are member of the European Reference Networks EURO-NMD and metabERN.