With the GYM-team (Generate Your Muscle)  I have been involved in developing and stimulating research for neuromuscular and mitochondrial diseases in the Netherlands and in European mitochondrial networks (Euromit, Miteuro, Mitocircle, MCRN, ERN-EURO-NMD-MITO) since 1991. Research initially focused on Mitochondrial Biogenesis and Disease and more recently on (1) Autologous gene therapy for MNGIE, (2) Gene and stem cell therapy for LHON, (3) Generation of hiPSCs from mitochondrial cardiomyopathy patient with LUMC (4) Natural course studies for MNGIE, Leigh syndrome, POLG1, CPEO/Kearns Sayre (Single large mtDNA deletion) (5) Stem cell based therapy to combat myopathy for mtDNA disorders (a.o. m.3243G>A, POLG1) and LHON/ADOA, and MDC1A. From 2024 onwards our team led by Prof. dr. H. Smeets, dr. F. Van Tienen and dr. J. Hoeijmakers and with collaboration by colleagues from national and international universities is conducting a phase IIa stem cell therapy trial aimed at assessing the effect and safety of autologous mesoangioblast administration in m.3243A>G mutation carriers (EU clinical trial number 2024-515129-27-00).

Expertises: Mitochondrial Myopathy, stem cell therapy, mtDNA mutation