Pim Pijnappel

Pim Pijnappel is a Full Professor at Erasmus University Medical Center (Erasmus MC), affiliated with the Department of Clinical Genetics and the Department of Pediatrics within the Faculty of Medicine. His research is highly focused on genetic metabolic disorders, particularly lysosomal storage diseases such as Pompe disease and mucopolysaccharidosis.

His primary research interests include gene therapy, enzyme replacement therapy, skeletal muscle biology, and 3D tissue-engineered muscle models for studying muscular dystrophies. He actively investigates disease mechanisms and therapeutic interventions for conditions like facioscapulohumeral muscular dystrophy and Pompe disease, with an emphasis on translational and clinical applications.

The recent publications highlight a strong trend in developing and utilizing advanced 3D-tissue-engineered skeletal muscle systems for disease modeling, gene knockdown strategies, and evaluating novel gene therapies. His work frequently involves collaboration with international consortia such as the European Pompe Consortium, underscoring his leadership in clinical guideline development and therapeutic innovation.

• Enzyme Replacement Therapy
• Glycogen Storage Disease Type II (Pompe Disease)
• Mucopolysaccharidosis
• Gene Therapy
• Skeletal Muscle Modeling
• Newborn Screening

Pim Pijnappel supervises research and has contributed to 59 research outputs, including articles, reviews, and book chapters. His collaborative network spans multiple institutions and countries, reflecting extensive engagement in both basic and clinical research. He is involved in advising and mentoring through supervised research work, though specific student names are not listed. His lab focuses on developing and applying tissue-engineered models to understand and treat rare genetic muscle disorders, with future work likely to expand into in vivo validation and clinical translation of gene therapies.