Update of the Scientific Secretariat Ségolène Aymé and Barbara Cagniard Scientific Secretariat IRDiRC Executive Committee - 24 September 2013

Task of the Scientific Secretariat Serve the Executive Committee: Organisation of the Executive Committee meetings Assuring secretarial work for the consortium Keeping all members updated Support the work of the SCs and WGs Organization of SC meetings and WG teleconference Analysis of overlaps and areas for possible collaboration Identification of trends/ emerging fields to be supported in the future

Task of the Scientific Secretariat Contribute to the dissemination Disseminate the results of IRDiRC projects with different means of communication Manage the public and private website of IRDiRC Edit content for newsletters Prepare documents and reports for all committees Organize IRDiRC conference Monitor the activities plan, organise and monitor the effort to achieve the objectives run performance control procedures inform on the project status and progress

Budget for 6 years: 2 000 000 € Staff Website Dissemination Travel 1 122 000 30 000 635 290 70 000 (4 staff) Equipment Sub contracting Overheads Total 10 000 2 000 130 710 2 000 000 Details: Conferences: 45 000 SC meetings: 590 290

Support to SCs and WGs

Meetings and Teleconference (TC) 2013 Invitation DSC WG TC WG Genome WG Model Syst WG Sequencing TC WG Ontologies WG Genome DSC meeting DSC TC Invitation ISC WG ISC meeting 4 WG meeting TC WG Biobanks WG Datasharing WG Registries TC WG Ethics TC WG Ethics TSC meeting March April May June July August September

Communication Dissemination

Old IRDiRC website home page ²

New IRDiRC website home page New documents and information Spotlight on initiatives Internal news

New IRDiRC website home page MEMBERS ONLY Access to IRDiRC private website

IRDiRC private website CATEGORIES Forgot your password?

IRDiRC interviews and projects highlights What is the main problem you will tackle? What is the concrete solution that you have selected? What are the steps? At what stage are you today? What can the patients, the clinicians or other stakeholders expect at the end of the project? How is your project contributing to reaching the goals of IRDiRC by 2020? Where does the project position itself in this particular field at the international level? Interview of Dr M Posada - Spanish Rare Disease Registries Research Network Interview of Dr G Andreotti and Dr MV Cubellis - Pharmacological chaperones to cure genetic diseases (Telethon Italy)

IRDiRC interviews and projects highlights Please send suggestions for new interviews Moreover, do not hesitate to send articles, interviews, videos, information on conferences etc. mentioning IRDiRC contact@irdirc.org

Number of visits from July 19 to August 19, 2013 Total : 952

Number of visits from August 19 to September 19, 2013 Total : 1402

Data collection: update and ways to improve the system

Data collected For research project For clinical trials Title Official title Year of start and ending Disease studied Budget (stay confidential) Type of therapie (drug, cell, gene, etc.) Name of researcher Participating countries Email address of researcher Contact information of PI for each country Name of laboratory Sponsor name Name of hosting institution EUDRACT number (Europe) Funding entity Recruitment status Summary Phase number Start date and estimated completion date Link to clinicaltrial.gov website

Use of data collected Orphanet database: IRDiRC website: analysis of gaps and overlaps IRDiRC website: general information (Title, year of start and funding body)

Status of data collection Research projects on the IRDiRC website/Orphanet Canadian Institutes for Health Research, E-Rare, European Commission, Federal Ministry of Education and Research, AFM, Genome Canda, National Institute of Health Carlos III, NIH, NKT Therapeutics, Sanford Research, Telethon Foundation Research projects being process ANR 2010, KNIH, Shire Research projects not received Western Australian Department of Health, BGI, Lysogene, Instituto Superiore de Sanita, Prosensa, The Netherlands Organisation for Health Research and Development, National Institute of Health Research, PTC Therapeutics

How to improve the system NIH: Extraction with NIH RePORTER and manual selection Countries with Orphanet national teams Countries without Orphanet National team Please send us the information Scientificsupport@irdirc.org