WP leaders: Ivo Gut (ES) and Marco Roos (NL)
Organised around the main actors in the development of new rare diseases therapies (data generators and curators, researchers and clinicians, SMEs, and the pharmaceutical industry), the main objective of the Rare Disease Use Case is to support the development of new therapies for rare diseases. The use case will:
- Build the ELIXIR registry of data resources and analysis tools critical for the development of rare disease research
- Implement a technical framework for the comparison and standardisation of services useful for rare-disease communities
- Collaborate with rare-disease communities in organising and running training courses, workshops and jamborees
See also the Rare Diseases Community page.
- D8.1: Portfolio of ELIXIR data resources and tools for the rare diseases communities.
- D8.2: Documentation of the tools for the data manipulation and standard conversions in the rare-disease field.
- D8.3: Report on the ELIXIR workshop organized with the rare-disease communities.
- D8.4: Report on the ELIXIR workshop organized with the rare-disease communities.
- D8.5: Report on the ELIXIR workshop organized with the rare-disease communities. (Not yet completed)
- D8.6: Documentation on adequate quality reporting standards for genomics datasets. (Not yet completed)
- D8.7: Options for sustainability of RD-Connect within the scope of ELIXIR. (Not yet completed)