Prof. Dr. Pim Pijnappel

• Role: Full Professor, Cell and Gene Therapy

Pim Pijnappel’s group is dedicated toward the development of novel therapies for genetic disorders using gene therapy and regenerative medicine. His group developed RNA therapy using splice-switching antisense oligonucleotides for Pompe disease. Optimized forms of hematopoietic stem cell-mediated lentiviral gene therapy have been developed for treating heart, skeletal muscles, and the CNS in Pompe disease and Mucopolysaccharidosis and are currently being prepared for the first in-human studies via the start up LentiCure. Adult muscle stem cells have been studied as source for regenerative therapy to treat muscle disorders. 

            Using iPSCs and CRISPR/Cas9-mediated gene editing, his group developed in vitro disease models. For skeletal muscle, iPSC-to skeletal muscle protocols, and 3D muscle-on-chip disease models (patient-derived mini-muscles that can contract) have been developed. To model cartilage disorders, his group generated iPSC-derived chondrogenic cells, and is progressing toward 3D models. In addition, his group works on extended DNA diagnosis of patients for which standard diagnostic procedures have failed. A widely used, open access mutation database for Pompe disease including genotype-phenotype relationships has been developed. Genetic studies have been performed to identify genetic variations that can modulate disease progression. Antibody responses to enzyme therapy have been characterized. 

            Pim Pijnappel has published >80 peer reviewed scientific articles, holds 11 patents on therapies and biomedical technology, and received >10M euro on research grants including from the National Growth Fund (NXTGEN HIGHTECH and Centre for Animal-Free Biomedical Translation), NWA (Cure4Life), EU-JPND, Health Holland, Prinses Beatrix Spierfonds, Hersenstichting, Dioraphte, and Metakids. He is board member of the Center of Lysosomal and Metabolic Diseases of the Erasmus MC, treasurer of the European Study Group of Lysosomal Disorders, board member of United for Metabolic Diseases, chair of the hDMT (Institute for human Organ and Disease Model Technologies (hDMT), theme group Skeletal Muscle-on-Chip), and advisor on Pompe disease for the Diagnose werkgroep of Spierziekten Nederland. Pim Pijnappel’s group is part of the Center for Lysosomal and Metabolic Diseases in which he closely collaborates with clinicians on translational research. He is co-founder and unpaid Chief Scientific Officer of the not-for-profit company LentiCure B.V. for the development of gene therapy for rare diseases for transparent and reasonable pricing. 

Google scholar:
https://scholar.google.nl/citations?user=uqArP9wAAAAJ&hl=nl

Lenticure:
https://lenticure.nl