Ria de Haas postdocHer translational research aims at understanding the pathophysiology of certain (neuro-) metabolic diseases and to evaluate the efficacy of novel therapeutic strategies. Her research line is embedded in the Radboud Center for Mitochondrial Medicine, the national reference center for mitochondrial disease which integrates all mitochondrial related care, diagnostics, counseling and research. Leigh Syndrome is a rare progressive neurodegenerative mitochondrial disease. Ria has extensive work experience with Ndufs4-/- mice which is a validated model for Leigh Syndrome (mitochondrial complex I deficiency). To elucidate the pathophysiology of Leigh Syndrome behavioral paradigms and molecular and biochemical mechanisms are investigated. She is particular interested in brain pathology and structural- and functional brain connectivity. Due to her collaboration with the Radiology Department different in vivo imaging techniques are assessed. Furthermore, by performing efficacy studies she has tested different novel promising compounds in this Ndufs4-/- model. One of the compounds that showed beneficial effects is KH176 (de Haas et al. Sci. Rep. 2017). However, due to the complexity of this disease, she believes treatment will not consist of solely one approach. Therefore she thinks it is of great importance to investigate the efficacy of different treatment strategies and also the combination of the most promising ones.
Field of studyPediatrics
Radboudumc Technology Center Animal research facility
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