APHP, VENETO, DIMDI Set of next steps which will help to merge the project results to a long-term maintenance which is stable and available for member states in the draft form of a recommendation.
Inventory of RD names, classification, mappings to ICD10, OMIM, SNOMED CT, and others, links to genes, annotations with epidemiological data M1 to M36 monthly
Web-based knowledge management platform
lead by INSERM
- [D.15]
Data management facility allowing for suggesting updates, to assess demands, to approve/reject, and to insert into the DB To be delivered at M12,24,36.
Orphanet DB versionning and differentials between versions
lead by INSERM
- [D.16]
This report describes the activities Carried out, milestones and results achieved in the first half of the project. Deliverables can be attached as annexes. Will be delivered at M12 and M24.
Reports on the external evaluation of Orphanet
lead by MUW
- [D.29]
INSERM- DGS (FR) – MUW Development of a modular representation of Orphanet and elaboration of strategies for a secured legal framework and a sustainable funding of Orphanet in the EU
Progress report on policy delivery and implementation
lead by UNEW
- [D.25]
2016 sees the 8th year of the ever-growing European Conference on Rare Diseases & Orphan Products. This biennial conference is a unique opportunity to come together and exchange: it is the event at wh...
2016 sees the 8th year of the ever-growing European Conference on Rare Diseases & Orphan Products. This biennial conference is a unique opportunity to come together and exchange: it is the event at which to connect and share with all other members of the rare disease community. The ECRD is the only event which, from its small beginnings, has united all rare disease stakeholders from all European nations- patients and patient representatives, healthcare professionals and researchers, industry, payers, regulators and policy makers alike- in the fight against rare diseases. The ECRD now brings together over 80 speakers and more than 800 participants, covering six themes of content over two days: from the latest research, to developments in new treatments, to innovations in healthcare, social care and support at the European, national and regional levels. New meeting formats to enhance the on-site learning experience will be showcased for the first time in Edinburgh and will include a speed networking session to connect patients, researchers and industry, an open-house “soap box” lunch session, interactive roundtables, audience polling, networking lunches / coffee breaks and dedicated poster sessions. The focus in 2016 will be on Game Changers in Rare Diseases. We will also be holding pre-conference tutorials, which will ensure that you are equipped to learn as much as possible from the conference.
Review document of existing technical implementations for RD coding of MS
lead by APHP
- [D.20]
Analyse at each MS level the situation for RD coding based on previous general work done through precedent JA. This work includes deep analysis of current and future situation. Existing systems in eac...
Analyse at each MS level the situation for RD coding based on previous general work done through precedent JA. This work includes deep analysis of current and future situation. Existing systems in each country might already give satisfactory data from some RDs. Granularity analysis for further coding requirements.
Elaborated dissemination plan indicating for each dissemination action : - what will be disseminated (key message) - to whom (audience) - why (purpose) - how (method) - when (timing