International Rare Diseases Research Consortium (IRDiRC) Executive Committee Meeting 15 April 2013 Dublin

Agenda 1(2) Meeting Agenda 12:45 Welcome and adoption of agenda 13:00 Quick round table with "state of play" reports from participants 13:30 Policy Document (Scientific Committee Chairs) - Review/discussion: proposed changes by Scientific Committees - Discussion on policies and guidelines from the industry partners' perspective - Decision: adoption of Policy Document 16:00 Roadmap and Gap Analysis (Support IRDiRC) Update on state of play 16:45 Communications issues (Support IRDiRC) - Update: Website (www.irdirc.org) - Update: Communication strategy 17:00 Governance issues (Chair / IRDiRC Scientific Committee Chairs) - Review/decision: Governance Document amendments - Review/decision: new nominations to Scientific Committees - Update: Working Groups 18:00 End of meeting at European Union House 20:00 Working Dinner at the Burlington Hotel, Upper Leeson Street, Dublin 4 - Continued discussion on any outstanding issues - Hosting of next meetings - AOB 21:30 End of Working Dinner Agenda 1(2)

Welcome to the new members of the Executive Committee Dr Ning Li, BGI Ms Diane Goetz, PTC Therapeutics Dr Robert Mashal, NKT Therapeutics

Round table state of play updates

Results of latest round of EU funding for RD € 144 million to 26 new projects announced Press release on 28 February 2013 Dissemination of IRDiRC video to audio-visual media 168 printed and online articles in 18 countries and some EU-wide media 62 media outlets in total ordered audio-visual material – content reached 22 countries News about EU funding and IRDiRC reaching at least 11 million people

IRDiRC Policy Document Review/discussion: proposed changes by Scientific Committees amended policy presented and revised at meeting, to be changed still is replace all RD with most RD Discussion on policies and guidelines from the industry partners' perspective OK for industry partners present at the meeting Decision: adoption of Policy Document adopted

Gap Analysis and Actionplan Aims to guide IRDiRC members on prioritiy areas for future funding/actions Support IRDiRC to provide the draft document (revised including comments from this meeting on the policies) to Scientific Committees/working groups for further elaboration and to presented the updated document at next ExeCom meeting It was identified that it would be of value to discuss between different organisation types on what is perceived as gaps – could be at next Exe Com meeting? Summarize the two existing reports on gaps in RD reserach and include in the Gap analysis

Governance issues: Scientific Committee nominations All approved with 3 year mandates Therapies Committee: Dr Robert George Schaub (nomination by NKT Therapeutics) Dr Ellen M. Welch (nomination by PTC Therapeutics) Dr Karin Rademaker nominated to replace Dr Marianne de Visser (nomination by ZonMw) Diagnostics Committee: Prof Jun Wang (nomination by BGI) Other changes: noted Therapies Committee: Dr Marcela del Rio (CIEMAT-CIBER ) has left the committee