Jan Smeitink is Professor in Mitochondrial Medicine, Head of the Department of Metabolic Disease, and Chairman of the Board of the Nijmegen Centre for Mitochondrial Disorders. Since April 2009 he coordinates the Centre for Systems Biology and Bioenergetics (www.csb-bioenergetics.nl) . Jan Smeitink founded in 2010 a successful biopharmaceutical company, Khondrion (www.khondrion.com), which currently holds 15 employees. In October 2013 Jan Smeitink was awarded a membership of the Academia Europaea. He has extensive collaborations with many mitochondrial patient organizations and researchers from all over the world.
Specialties: Pediatrics, Inborn Errors of Metabolism, Mitochondrial Medicine, Business Development.
The research program – mitochondria in health and disease - concentrates on two topics:
1) human complex I in health and disease and
2) combined OXPHOS-system deficiencies.
Contributions to the field include the characterization of most structural nuclear genes encoding the building blocks of OXPHOS complex I, the descriptions of a) the first mutations in various genes of this complex leading to isolated complex I deficiency, b) the first assembly model of complex I and c) the first human assembly factor as well as the characterization of the various cell biological consequences of complex I disease. The most important achievement related to the second topic includes the description of patients with the first mutations in translation elongation factors. The final goal in life for Jan is to make a substantial contribution to the development of new therapies for mitochondrial disease.
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