1. Scientific Secretariat Report IRDiRC Executive Committee Meeting
November 6, 2014
Shenzhen, China

2. Topics to be covered
Analysis of the activities from the secretariat perspective
Communication
Assistance to SC and WG
Assistance to Executive Committee
Proposal for changes
Change in scope
Change in organisation

3. Analysis of Current Communication channels

4. Number of visitors of the IRDiRC public website
Increasing
29860 visitors in total

5. Number of page view of the IRDiRC public website
Increasing
70297 page view in total

6. IRDiRC website visitors by country (from July 2013 to October 2014)+
1. France Sweden
2. USA Austria
3. UK Ireland
4. Spain Greece
5. Italy South Korea
6. Germany Israel
7. Canada Hungary
8. Belgium Denmark
9. China Finland
10. Netherlands Czech Republic
11. Australia Norway
12. Switzerland Poland
13. India Hong Kong
14. Japan Turkey
15. Portugal Romania … -

7. % of page view of the IRDiRC public website from July 2013 to October 2014
25% +
Homepage
Research highlights
Lists of projects funded by IRDiRC members
Goals , Members
About RD, Upcoming Activities
Current results of research
Governance Structure, IRDiRC Policy & Guidelines, IRDiRC Related Calls, Reports & guidelines
Background history, Become a member, Conferences, Contact us, Exec Com meetings, Related RD initiatives, Research in RD, SC meetings, WG Activities … 9% 8% 6% 4% 3% 2% 1% -

8. Most accessed articles from July 2013 to October 2014+
Horizon 2020 call for proposals in the field of RD research
DECIPHER – a valuable database for researchers and clinicians: Q&A with Dr. Helen Firth
First IRDiRC conference on April in Dublin, Ireland
FORGE: A successful Canadian project to identify genes causing rare pediatric disorders
Petition requesting amendments to the draft on Data Protection Regulation
Save the date for the second IRDiRC conference in Shenzhen, China
Pharmacological chaperones to cure genetic diseases – Q&A with G. Andreotti and M.V. Cubellis
Open Info Day – Horizon 2020 ‘Health, demographic change and wellbeing’ – first funding round
China celebrates the founding of the Chinese Rare Disease Research Consortium
SpainRDR aims to build the National Rare Diseases Registry in Spain – Q&A with Dr Manuel Posada
FDA clarifies aspects of the Orphan Drug Act in the Final Rule document
RD-Connect: An integrated platform connecting databases, registries, biobanks and bioinformatics for rare disease research
China imposes restrictive regulation of genetic testing
Registration opens for joint EMA/FDA/MHLW-PMDA orphan medicinal product workshop
The International Rare Diseases Research Consortium announces its second conference with renowned speakers
The much awaited ontology of rare diseases has just been released … -

9. Most accessed lists of projects funded by IRDiRC members from July 2013 to October 2014+
European Commission (EU)
E-RARE (EU)
Telethon Foundation (Italy)
Canadian Institutes for Health Research (Canada)
National Cancer Institute, NIH (USA)
French Muscular Dystrophy Association, AFM (France)
National Institute of Neurological Disorders and Stroke, NIH (USA)
Orphan Products Grants Program, FDA (USA)
Federal Ministry of Education and Research (Germany)
National Institute of Health Carlos III (Spain) … -

10. Number of page view of the IRDiRC private website
Increasing
1140 page view in total

11. Number of visitors of the IRDiRC private website
Stable
134 visitors in total

12. % of page view of the IRDiRC private website from February 2014 to October 2014+
27%
Homepage
Executive Committee
TSC
DSC, Scientific Secretariat, WG Biomarkers, WG Model Systems, WG Repurposing
WG Biotechnology, WG Genome/Phenome, WG Ontologies, WG Regulatory
ISC, WG Biobanks, WG Data Sharing, WG Ethics, WG Registries, WG Sequencing
WG Population Controls on Variant Datasets
19% 5% 4% 3% 2%
0,5% -

13. IRDiRC Newsletter Launched in July 2013 252 internal subscribers
54% of subscribers do not open the newsletter
30% of subscribers open the newsletter
16% of subscribers open and click on the links of the newsletter
6 unsubscriptions since July 2013

14. Conclusion
Importance of writing research highlight articles
Better promotion of policy and guidelines documents
Suggestions from YOU ?

15. Report on research projects funded by IRDiRC members

16. Analysis of SC and WG activity

17. Meetings and Teleconference (TC) 2012
DSC meeting
ISC meeting
ISC meeting
TSC meeting
TSC meeting
May
June
July
August
September
October
November
December

18. Meetings and Teleconference (TC) 1st semester 2013
Invitation
DSC WG
DSC meeting
ISC meeting
Meeting
WG Biobanks
Meeting
WG Data sharing
Invitation
ISC WG
Meeting
WG Ethics
Meeting
WG Registries
TSC meeting
January
February
March
April
May
June

19. Meetings and Teleconference (TC) 2nd semester 2013
WG Genome
DSC TC
DSC meeting TC
WG Genome TC
WG Model System TC
WG Sequencing TC
WG Genome TC
WG Ontologies TC
WG Sequencing TC
WG Model System TC
WG Biobanks
ISC meeting TC
WG Data sharing TC
WG Ethics TC
WG Registries TC
WG Registries TC
WG Biomarkers
TSC TC TC
WG Biotech
Invitation
TSC WG TC
WG Regulatory
July
August
September
October
November
December

20. Meetings and Teleconference (TC) 1st Semester 2014
WG Ontologies TC
WG Model System TC
WG Model System
ISC TC
ISC TC
ISC meeting
TSC TC
TSC meeting TC
WG Biomarkers TC
WG Regulatory TC
WG Biomarkers TC
WG Biotech TC
WG Repurposing TC
WG Repurposing
January
February
March
April
May
June

21. Meetings and Teleconference (TC) 2nd Semester 2014
DSC TC
DSC TC TC
WG Model System TC
WG Genome
DSC TC TC
WG Ontologies TC
WG Pop Controls TC
WG Pop Controls TC
WG Sequencing TC
WG Sequencing TC
WG Biobanks TC
WG Registries TC
WG Biobanks TC
WG Data sharing TC
WG Ethics
TSC TC TC
WG Repurposing TC
WG Biomarkers
July
August
September
October
November
December

22. Participation to meetings (m) and teleconferences (tc)
3rd
4th
5th
6th
7th
Diagnostics SC
8/9
(m)
6/9
8/10
(tc)
6/12
5/11
6/11
WG Genome
7/9
7/10
6/10
WG Model System
7/8
5/8
6/8
WG Ontologies
9/10
5/10
11/18
WG Sequencing
3/10
4/10
WG Pop Controls
Interdisciplinary SC
10/10
9/11
9/12
WG Biobanks
3/9
5/40
WG Data sharing
8/14
7/14
10/14
WG Ethics
3/12
8/12
7/12
WG Registries
12/15
10/15
11/17
11/19
Number of participants/ number of members
>70 % %
< 50 %

23. Participation to meetings (m) and teleconferences (tc)
3rd
4th
5th
6th
7th
Therapies SC
12/12 (m/tc) ?
(tc)
7/12
(m)
10/16
11/16
9/18
11/18
WG Biomarkers
4/7
5/7
3/6
WG Biotech
6/10
WG Repurposing
WG Regulatory
4/11
9/11
Number of participants/ number of members
>70 % %
< 50 %

24. Conclusions
Intense brain storming during more than 2 years with an exhaustment of the topics to discuss by most groups
Very heavy workload for the secretariat, not proportionate to the outcome relevance

25. Proposal for a change in scope

26. More focus on fewer topics
Topics specific to RD
With International scope
Actionable with our human means
Not yet covered by another International initiative
Identified by Exec, SC, WG or secretariat

27. Specific proposals by the Secretariat
Already decided:
Development of the Clearinghouse of Data Standards
Development of the Generic Consent Form
New proposals (in addition to proposals from SC):
Coordination of initiatives to identify in silico new drugs and/or new indication
Coordination of initiatives to develop patient-centered outcome measures for RD
Coordination of initiatives on small population trials

28. Data Standards Clearinghouse
Progress report
Data Standards Clearinghouse

29. Scope of Clearinghouse project
Developed by the WG on Data Sharing and Bioinformatics.
Promote adoption of data standards and common data elements across rare disease research communities
Provide a dynamic data standards inventory for research on rare diseases, in the fields of:
Genomics
Phenomics
Data Elements
Ontologies
Patient Outcome Measures
Publicly available.
Researchers invited to contribute and update data.

30. Progress of Clearinghouse project
Compilation of standards
Sources:
Peer-reviewed literature
Recognized (institutional) initiatives
Criteria:
Sustainability
Endorsement by high profile institutions or expert groups
Standards organized based on:
Categories
A peer-review process
An agreed upon proposal

31. Next Steps and Requirements
Establish a methodology to develop, deploy and manage the Clearinghouse:
Adopt clear definitions of standards and data elements
Construct a clear architecture based on categories
Define the peer-review process
Identify funding to develop a dynamic Clearinghouse
Jeffrey Krischer

32. Specific proposals by the Secretariat
Already decided:
Development of the Clearinghouse of Data Standards
Development of the Generic Consent Form
New proposals (in addition to proposals from SC):
Coordination of initiatives to identify in silico new drugs and/or new indication
Coordination of initiatives to develop patient-centered outcome measures for RD
Coordination of initiatives on small population trials

33. 1-Graph Theory Enables Drug Repurposing Gramatica et Al
1-Graph Theory Enables Drug Repurposing Gramatica et Al.: PLOS one, Vol 1 e84912, 2014
23 Million articles from PubMed
Possible to link the gathered information on drugs, physiological pathways and resulting biological activities with the pathophysiological signs & symptoms of diseases
Possible to rank the matches in order to identify the most promising leads

34. Graph Theory Enables Drug Repurposing Gramatica et Al
Graph Theory Enables Drug Repurposing Gramatica et Al.: PLOS one, Vol 1 e84912, 2014

35. Graph Theory Enables Drug Repurposing Gramatica et Al
Graph Theory Enables Drug Repurposing Gramatica et Al.: PLOS one, Vol 1 e84912, 2014

36. In silico research for drug positionning/repurposing
THERAMetrics.com have developed a system to generate scientific rationales for unmet medical needs
Plataforma Drug Discovery (Barcelona)
GSK and Sanofi discovery platform
EBI
NIH Drug repurposing initiative
others………..to be identified

37. Specific proposals by the Secretariat
Already decided:
Development of the Clearinghouse of Data Standards
Development of the Generic Consent Form
New proposals (in addition to proposals from SC):
Coordination of initiatives to identify in silico new drugs and/or new indication
Coordination of initiatives to develop patient-centered outcome measures for RD
Coordination of initiatives on small population trials

38. 2- Patient-centered outcome measures
COMET: Core Outcome Measures in Effectiveness Trials: EC funded project for the development and application of agreed standardized sets of outcomes
PCORI: Patient-Centered outcome Research Institute: US NGO established in 2010 to improve the quality and relevance of evidence
ICHOM: International Consortium for Health Outcomes Measurement: define health outcomes
ISPOR: International Society for Pharmacoeconomics and Outcomes Research has a Patient Reported Outcomes (PRO) Content Validity Good Research Practices Task Force
MAPI is the leading Patient-Centered Research company

39. Specific proposals by the Secretariat
Already decided:
Development of the Clearinghouse of Data Standards
Development of the Generic Consent Form
New proposals (in addition to proposals from SC):
Coordination of initiatives to identify in silico new drugs and/or new indication
Coordination of initiatives to develop patient-centered outcome measures for RD
Coordination of initiatives on small population trials

40. 3- Small Population Trials
Three projects in Europe
Integrated DEsign and AnaLysis of small population group trials (IDEAL)
Innovative methodology for small populations research (INSPIRE)
Advances in Small Trials dEsign for Regulatory Innovation and eXcellence (ASTERIX)
Other similar projects in other regions ?

41. Proposal for a change in organisation

42. Change in organisation
Stop the activity of the 12 existing WG to re-establish ad hoc WG in relation with topics selected for action
Proposal to have now only 2 SC ,for each of the goals: Diagnostics and Therapy, to facilitate communication
Secretariat workforce dedicated to preparing documents to be discussed at workshops + reports from workshops and follow-up of further actions identified + publications in journals + communication in meetings

43. Secretariat proposed Scope of Activity
Secretariat of Executive Committee
Communication
on projects funded by IRDiRC members + publications Website and internal newsletter
Secretariat of 5 or 6 WG maximum
composed of the key stakeholders of a given topic with a defined action plan
Management of
The clearinghouse of data standards
The « IRDiRC recommended » process
The Core terminology of phenome terminologies

44. Secretariat Team Coordination: Ségolène Aymé
Management: Lilian Lau (will replace Barbara Cagniard)
Communication: Antonia Mills for scientific documents and Sophie Höhn for website, PWP and internal newsletter
Research projects: Sandra Peixoto
Administration: Mariane Bellanger

45. Thank you for your attention and Suggestions