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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 use the global registry to define natural history and outcome measures and for the design of clinical trials.
  • ii) to integrate patient-reported outcome measures into the global registry
  • iii) to increase the diagnostic yield by integrating 3000 WES/WGS data and implementing RNA-seq and proteomics in diagnostics and
  • iv) to validate and characterize novel disease variants, genes and mechanism.

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