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

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 2011-2020 objectives: 200 new therapies for rare diseases by 2020 Means to diagnose most rare diseases by 2020 Achieved in 2017  new objectives being formulated

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

IRDiRC Structure

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

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

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

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

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

Creation of New IRDiRC Goals, 2017-2027 Background IRDiRC original Goals 2011-2020 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

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)

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 patients @ cost $200K/yr => ½ GDP (US)

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

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

For more information http://www.irdirc.org/ Secretariat: Lilian Lau, lilian.lau@irdirc.org Chair: Christopher Austin, austinc@mail.nih.gov Co-Chair: Hugh Dawkins, hugh.dawkins@health.wa.gov.au