lkjlkjhjhhon–– 2015 Activity Report 2015 Activity Report www.orpha.net Table of contents Abbreviation list ........................................................................................................................... 4 1. Overview .............................................................................................................................. 6 1.1. Objective .................................................................................................................................... 6 1.2. Activities ..................................................................................................................................... 6 1.3. Highlights of 2015 ...................................................................................................................... 7 Orphanet international positioning ............................................................................................... 7 Improving transparency and traceability ....................................................................................... 7 Orphanet database updates ........................................................................................................... 7 Orphanet documents update ......................................................................................................... 7 Orphanet website information ...................................................................................................... 8 Codification of RD using ORPHA codes .......................................................................................... 8 2. Orphanet consortium ............................................................................................................ 9 2.1. The RD-ACTION Joint Action ...................................................................................................... 9 2.2. Orphanet Governance ............................................................................................................... 9 2.3. Expansion of the consortium ................................................................................................... 10 2.4. Orphanet members and scope of their activity ...................................................................... 11 3. Orphanet: Products and Services ......................................................................................... 12 3.1. The Orphanet website ............................................................................................................. 13 3.2. The Orphanet servers .............................................................................................................. 17 3.3. Orphanet inventory of rare diseases ...................................................................................... 18 3.4. Orphanet Rare Diseases Ontology .......................................................................................... 21 3.5. Orphanet inventory of genes .................................................................................................. 22 3.6. Orphanet encyclopaedia .......................................................................................................... 23 3.7. Orphanet directory of expert resources ................................................................................. 30 3.8. Orphanet directory of orphan drugs ....................................................................................... 33 3.9. Orphadata ................................................................................................................................ 33 3.10. Orphanet Report Series ........................................................................................................... 37 3.11. The Orphanews Newsletter ..................................................................................................... 38 3.12. Orphanet Journal of Rare Diseases ......................................................................................... 39 4. Users .................................................................................................................................. 39 5. Network: Orphanet’s national and international collaborations ........................................... 44 5.1. Collaboration with the WHO ................................................................................................... 44 2015 Activity Report – Orphanet 2 5.2. Collaboration with Health Authorities .................................................................................... 44 5.3. Scientific collaborations and partnerships .............................................................................. 46 6. Funding .............................................................................................................................. 49 6.1. Orphanet’s core activity funding ............................................................................................. 49 6.2. Financial and non-financial partnerships for national activities ............................................ 52 7. Communication .................................................................................................................. 65 7.1. Communication documents .................................................................................................... 65 7.2. Invitations to give lectures at conferences in 2015 ................................................................ 65 7.3. Booths at conferences in 2015 ................................................................................................ 65 8. The Orphanet team as of December 2015 ............................................................................ 66 Figures and table index Figure 1 Orphanet members and contact points .................................................................................. 10 Figure 2 Orphanet relational database ................................................................................................. 12 Figure 3 Orphanet data production methodology ................................................................................ 13 Figure 4 The Orphanet portal homepage in 2015 ................................................................................. 14 Figure 5 Distribution of the traffic sources ........................................................................................... 14 Figure 6 Orphanet website consultations in 2015 ................................................................................ 15 Figure 7 Numbers of pages seen/session since 2011 ............................................................................ 16 Figure 8 The Orphanet IT architecture in 2015 ..................................................................................... 17 Figure 9 Evolution of the inventory of RD since 2010 (number of phenomes) .................................... 18 Figure 10 Improved visibility of the Orpha number in the Classification page ..................................... 20 Figure 11 Improved and easier search results page .............................................................................. 21 Figure 13 The disease database content as of 31 December 2015 ...................................................... 24 Figure 14 Downloads of the Orphanet emergency guidelines by language in 2015 ............................ 25 Figure 15: Downloads of the Orphanet emergency guidelines since 2010 in all languages ................. 25 Figure 16 Total number of downloaded French Orphanet general public encyclopaedia texts in 2015 ............................................................................................................................................................... 26 Figure 17 Downloads of the general Public encyclopaedia since 2011 ................................................ 26 Figure 18 Number of downloads per month of the French Disability factsheets in 2015 .................... 27 Figure 19 Downloads per month of External Best practice guidelines in 2015 .................................... 28 Figure 20 2015 Directory of expert resources ....................................................................................... 31 Figure 21 Number of downloads from the Orphadata website since mid 2011 ................................... 35 Figure 22 Distribution of the downloads of Orphadata freely available datasets in 2015 ................... 35 Figure 23 Distribution of the downloads of Orphadata Datasets accessible on demand [total of 428 downloads] ............................................................................................................................................ 36 Figure 24 New Orphadata homepage products presentation .............................................................. 36 Figure 25 Number of downloads of the Orphanet Report Series in all languages since 2010 ............. 38 Figure 26 OrphaNews homepage .......................................................................................................... 38 2015 Activity Report – Orphanet 3 Figure 27 Types of Orphanet users (percentage of total respondents) n = 3795 ................................. 40 Figure 28 Visiting frequency of respondents ........................................................................................ 40 Figure 29 Information sought by respondents during their connection to Orphanet (percentage of total number of respondents) ..............................................................................................................