1. The International Rare Diseases Research Consortium
Christopher Austin, M.D.
Chair, IRDiRC Consortium Assembly
Rare Disease International Policy Event
Geneva, Switzerland
10 February 2017
Diego

2. International Rare Diseases Research Consortium (IRDiRC)
Global coordination and cooperation to stimulate and maximize output of rare disease research efforts
Members from Europe, North America, Asia, Australia, Middle East
Each funder supports its own research
Initial focus on developing common scientific and policy frameworks
objectives:
200 new therapies for rare diseases by 2020
Means to diagnose most rare diseases by 2020
Achieved in 2017  new objectives being formulated

3. Reykjavik Meeting, Oct 2010 – IRDiRC announced
IRDiRC History
2009 – Idea (Draghia-Akli, Collins)
October 2010 – IRDiRC announced
April 2011 – IRDiRC established
April 2013 – First IRDiRC Conference, Dublin
November 2014 – Second IRDiRC Conference, Shenzhen
February 2017 – Third IRDiRC Conference, Paris
Chairs
April 2011 – Dr. Ruxandra Draghia-Akli (European Comission)
January 2013 – Dr. Paul Lasko (Canadian Inst. of Health Research)
February 2016 – Dr. Chris Austin (NIH/NCATS)
Reykjavik Meeting, Oct 2010 – IRDiRC announced

4. IRDiRC Structure

5. IRDiRC Consortium Assembly
Western Australia Department of Health
Federal Ministry of Education and Research
National Center for Advancing Translational Sciences, NCATS, NIH
European Organisation for Treatment & Research on Cancer, EORTC
Shire
National Eye Institute, NEI, NIH
Chiesi Pharmaceuticals
National Human Genome Research Institute, NHGRI, NIH
Canadian Institutes for Health Research
Istituto Superiore de Sanita
Telethon Foundation
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIAMS, NIH
Genome Canada
Japan Agency for Medical Research and Development, AMED
BGI
Chinese RD Research Consortium
National Institute of Child Health and Human Development, NICHD, NIH
National Institutes of Biomedical Innovation, Health and Nutrition, NIBIOHN
WuXi AppTec
National Institute of Neurological Disorders and Stroke, NINDS, NIH
E-Rare 2 Consortium
European Commission
Saudi Human Genome Project
NKT Therapeutics
Academy of Finland
Netherlands Organisation for Health Research and Devevelopment
Pfizer
Agence Nationale de la Recherche, ANR
Korea National Institute of Health
PTC Therapeutics
Sanford Research
Fondation maladies rares
National Institute of Health Carlos III, ISCIII
EURORDIS
French Muscular Dystrophiy Association, AFM
Roche
National Organization for Rare Diseases
Lysogene
National Institute for Health Research
Children's New Hospitals Management Group
Food and Drug Administration, FDA
Genetic Alliance
National Cancer Institute, NCI, NIH
Red=new member

6. IRDiRC Constituency Committees Mission
Identify
Overlap of priorities/activities and gaps within each constituency space
Common roadblocks across constituency space worldwide
Other people within the constituency space who would benefit the committee
Use this information to
Determine next Goals for IRDiRC
Identify how the constituency will contribute to the new set of Goals
Create Task Forces and work plans to address priorities/gaps
With growth of IRDiRC a new era has come around, with different subgroups that are not only asked to comment, but also to be involved in setting both the goals and actions, but also involved in attributing to these goals.
Growth of IRDiRC requires new structure
What role should patient advocacy play in research, both inside and outside of IRDiRC?
Patient groups need to be at the same level as funders, companies, and scientists
Once governance issues are resolved, a Patient Advocates Committee representative will participate in OpComm
Purpose of Committee
Constituency groups will be analogous to the scientific committees in terms of their structure and level in the organization
The main initial goals of this group are to identify:
Overlap and gaps in patient advocacy group priorities; find common ways to addressing problems, no matter the patient advocacy group
Common roadblocks across patient advocacy groups worldwide that IRDiRC should address, in order to achieve their vision
Find other people in the patient space who would benefit the committee or benefit from the committee
Would like to use that information to:
Determine appropriate goals for IRDiRC in the patient advocacy space for the next 5 years; it will be the occasion to redefine how and where to have an influence
Identify how the patient advocacy groups will contribute to that new set of goals

7. IRDiRC Constituency Committees Chairs
Funders
Chair: Daria Julkowska, ANR/E-Rare
Co-Chair: Hugh Dawkins, Health Department of Western Australia
Patients Advocates
Chair: Sharon Terry, Genetic Alliance
Co-Chair: Béatrice de Montleau, EURORDIS
Companies
Chair: David Thompson, Shire
With growth of IRDiRC a new era has come around, with different subgroups that are not only asked to comment, but also to be involved in setting both the goals and actions, but also involved in attributing to these goals.
Growth of IRDiRC requires new structure
What role should patient advocacy play in research, both inside and outside of IRDiRC?
Patient groups need to be at the same level as funders, companies, and scientists
Once governance issues are resolved, a Patient Advocates Committee representative will participate in OpComm
Purpose of Committee
Constituency groups will be analogous to the scientific committees in terms of their structure and level in the organization
The main initial goals of this group are to identify:
Overlap and gaps in patient advocacy group priorities; find common ways to addressing problems, no matter the patient advocacy group
Common roadblocks across patient advocacy groups worldwide that IRDiRC should address, in order to achieve their vision
Find other people in the patient space who would benefit the committee or benefit from the committee
Would like to use that information to:
Determine appropriate goals for IRDiRC in the patient advocacy space for the next 5 years; it will be the occasion to redefine how and where to have an influence
Identify how the patient advocacy groups will contribute to that new set of goals

8. IRDiRC Scientific Committees Mission
Establishment, agreement, and promulgation of best practices, operating procedures, quality standards, roadmap to reach IRDiRC goals in their scientific area
Implement Task Forces and work plans to address priorities/gaps
Inform Constituency Committees of scientific states across the three Scientific Committee areas of responsibility, opportunities, emerging issues
Representation across constituencies
With growth of IRDiRC a new era has come around, with different subgroups that are not only asked to comment, but also to be involved in setting both the goals and actions, but also involved in attributing to these goals.
Growth of IRDiRC requires new structure
What role should patient advocacy play in research, both inside and outside of IRDiRC?
Patient groups need to be at the same level as funders, companies, and scientists
Once governance issues are resolved, a Patient Advocates Committee representative will participate in OpComm
Purpose of Committee
Constituency groups will be analogous to the scientific committees in terms of their structure and level in the organization
The main initial goals of this group are to identify:
Overlap and gaps in patient advocacy group priorities; find common ways to addressing problems, no matter the patient advocacy group
Common roadblocks across patient advocacy groups worldwide that IRDiRC should address, in order to achieve their vision
Find other people in the patient space who would benefit the committee or benefit from the committee
Would like to use that information to:
Determine appropriate goals for IRDiRC in the patient advocacy space for the next 5 years; it will be the occasion to redefine how and where to have an influence
Identify how the patient advocacy groups will contribute to that new set of goals

9. IRDiRC Scientific Committees Chairs
Diagnostics
Chair: Kym Boycott, Children’s Hospital of Eastern Ontario, Canada
Co-Chair: Gareth Baynam, Health Department of Western Australia
Foundational (aka, Interdisciplinary)
Chair: Hanns Lochmüller, University of Newcastle, UK
Co-Chair: Petra Kaufmann, National Center for Advancing Translational Sciences (NCATS), NIH, US
Therapies
Chair: Diego Ardigò, Chiesi Pharmaceuticals, Italy
Red = newly elected

10. Creation of New IRDiRC Goals, 2017-2027 Background
IRDiRC original Goals
Contribute to the development of 200 new therapies
Means to diagnose most RDs
After only 6 years:
These initial objectives have been largely achieved
Provides need/opportunity to establish new Goals for next decade
Being formulated via a broadly consultative process beginning July 2016, discussed in detail at IRDiRC member meeting 6-7 Feb, at IRDiRC 3rd International Conference 8-9 Feb 2017; will be finalized and published in April

11. IRDiRC Planning Committee International Representation
Chris Austin (NIH/NCATS)
Ruxandra Draghia-Akli (EC)
Jeff Schloss & Lu Wang (NIH/NHGRI)
Hanns Lochmüller (Newcastle U)
Daria Julkowska (ANR/E-Rare)
Ana Rath (INSERM)
Makoto Suematsu (AMED)
Carlo Incerti (Genzyme)
Sharon Terry (Genetic Alliance)
Yann Le Cam (EURORDIS)
Kym Boycott (Children’s Hospital Eastern Ontario)
Hugh Dawkins (Health Dept of Western Australia)

12. Our Mission: Transformation, not Incrementalism
Scale of problems in RD research necessitate changes that will bring about exponential improvement
Diagnostic odyssey remains the norm even for well known RDs, leading to lost quantity and quality of life, enormous costs
6000 untreatable RDs, ~3 have first treatment approved/yr => 2000 years for all RD to be treatable
Access is low and costs are high: cost of diagnostic odyssey + lack of treatments + cost of new treatments: “unsustainable”.
If we magically had treatments for all RDs today, and treated all affected cost $200K/yr => ½ GDP (US)

13. Our Mission: Transformation, not Incrementalism
But radically more efficient and effective paradigms have been developed and demonstrated
The common factor in all of these radical improvements: SHARING
of knowledge
of data
of infrastructure
of expertise
of viewpoints

14. IRDiRC Goals – 2017-2027 Draft overarching Vision
Enable all people living with a rare disease to receive diagnosis, care, and therapy within one year of coming to subspecialty medical attention

15. For more information http://www.irdirc.org/
Secretariat: Lilian Lau,
Chair: Christopher Austin,
Co-Chair: Hugh Dawkins,