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GENOMIT aim to advance understanding of the natural course of mitochondrial disease, provide a solid foundation for genetic counseling, and serve as catalysts for translating basic research results into clinical practice. Therefore, the GENOMIT partners have formulated the following four objectives to be addressed in the context of four different work packages (WP) that will be coordinated by four different international partner sites:

i) to establish a global patient registry for mitochondrial disorders integrating existing prospectively collected data from >4500 patients from four national networks, and providing access for all other countries,

ii) to improve and extend NGS diagnostics for patients with mitochondrial disorders,

iii) to increase our knowledge of pathophysiological mechanisms by identification and characterization of new targets, and

iv) to test new therapeutic options by bypassing complex I deficiencies.

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