David Parfitt is a postdoctoral researcher in the lab of Willeke van Roon-Mom. David received his degree in Biology in 2005 from the University of York, UK, before starting his scientific career in earnest by undertaking PhD training in the laboratory of Paul Chapple at Barts and the London School of Medicine and Dentistry, Queen Mary Univeristy of London. His doctoral studies focused on the cell biology of molecular chaperone proteins in neurodegeneration, and made significant contributions to the field by elucidating the function, localization and interactions of the J-domain protein sacsin and it’s role as the cause of the autosomal dominant ataxia ARSACS.
David was awarded his PhD in 2011 and subsequently joined Professor Michael Cheetham’s laboratory at the University College London Institute of Ophthalmology, working on multiple projects investigating proteostasis mechanisms of protein misfolding in the cell biology of inherited retinal and neurodegenerative disorders, such as retinitis pigmentosa, Leber congential amaurosis, Stargardt disease and distal hereditary motor neuropathy. He has developed an interest and expertise in using patient-derived induced pluripotent stem cells (iPSCs) to create and develop sophisticated three-dimensional ‘organoid’ models of human disease, with a special focus on using these models to test novel potential therapies. His research uses many modern molecular, biochemical and innovative cell biology methods alongside cellular imaging techniques.
David started working in the NeuroD group in the department of Human Genetics at the LUMC in 2019, using iPSCs to create a model of Huntington’s disease with a view to testing a potential antisense oligonucleotide therapy.