Work Packages

Work Package 4 - Collection of best practices and research recommendations on rare diseases


Leader Karen Ritchie - Healthcare Improvement Scotland, United Kingdom



  • to capitalize on existing best practices (guidelines, documents etc.)
  • to identify gaps in scientific knowledge (uncertainties), elaborating related research needs and recommend relavant research initiatives

WP4 will collect and capitalize on existing BP guidelines currently scattered across various RD databases and websites and make them accessible through a single point of access. WP4 will also coordinate the collection, prioritization and communication of RD research recommendations. The approach should guarantee effectiveness, reproducibility and transparency. WP4 will take advantage of existing collection of data (National Guideline Clearing House, G-I-N, Orphanet, PHGEN II). WP4 will also monitor the emerging evidence from basic science (genomics) to identify future research and policy needs to improve the clinical and health management of RD. WP4 will develop meta level BP guidelines on the timely and effective and efficient translation of the evidence into patient oriented strategies for RD.




D4.1 - Procedures manual for collection of guidelines and research recommendations (M24)

D4.2-4.3-4.4 - Collection and evaluation of existing guidelines and research recommendations (M24, 36, 44)

D 4.5 - Evidence monitoring protocol published (M40)

D 4.6 - Meta guideline on evidence translation in RD (M46)