The International Rare Diseases Research Consortium (IRDiRC) teams up researchers and organizations investing in rare diseases research in order to achieve two main objectives by the year 2020, namely to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases.
A number of grand challenges are being addressed through collaborative actions to reach these 2020 goals such as:
- establishing and providing access to harmonized data and samples,
- performing the molecular and clinical characterization of rare diseases,
- boosting translational, preclinical and clinical research,
- and streamlining ethical and regulatory procedures.
IRDiRC Objectives and Timetable
- Individual researchers and consortia have been studying rare diseases for several decades. However, the rare disease research community was very fragmented mainly due to the large heterogeneity of rare diseases. Indeed, for many diseases, there are very limited amount of researchers and resources available. However, concerted efforts to organize the rare disease research community and funding were emerging in several countries but so far, international coordination was rather limited.
- The idea to establish IRDiRC came during a meeting between Dr. Ruxandra Draghia-Akli (European Commission) and Dr. Francis Collins (NIH) in 2009. Their main objective was to accelerate medical breakthroughs for people affected by rare diseases by establishing a network of research funders.
- In October 2010, the European Commission and the US National Institute of Health announced in the first preparatory workshop in Reykjavik (Iceland) their intention to join forces on rare diseases research. The two institutions planned to coordinate their research funding on rare diseases and to make major investments in this research field in the years to come.
- In April 2011, IRDiRC was officially established and launched during the second preparatory workshop in Bethesda (USA). The group of funding agencies representatives agreed to have an Interim Executive Committee until the end of 2012. The group chose Dr. Ruxandra Draghia-Akli as interim Chair.
- In October 2011 in Montreal (Canada), the third preparatory workshop gathered around 100 participants representing public and private funding organizations, scientists, regulators, industry and patient groups. It focused on continuous efforts to develop common scientific and policy frameworks to guide the activities of the participating IRDiRC members.
- In September 2012, Dr. Paul Lasko, Scientific Director of the Canadian Institutes of Health Research (CIHR) Institute of Genetics, was selected as the next Chair of the executive committee, starting in 2013.
- In April 2013, the first IRDiRC conference took place in Dublin, Ireland. Organized by the European Commission, this conference was attended by more then 400 participants. Researchers, clinicians, patient groups and representatives of public and private organizations met to assess the three-year old work of IRDiRC, which is dedicated to finding treatments and diagnoses for rare diseases.
- In November 2014, the Second IRDiRC Conference was organized between IRDiRC and BGI in Shenzhen, China. Over 600 participants attended this conference which provided opportunity for Chinese and international stakeholders who are active in the field of rare disease to forge links.
- In March 2015, Task Forces were established to tackle specific topics of importance to rare diseases research, including patient-centered outcome measures, small population clinical trials, data mining and repurposing, matchmaker exchange (in collaboration with GA4GH), and automatable data and access(in collaboration with GA4GH).
- In December 2015, Dr. Christopher Austin, Director of the National Center for Advancing Translational Sciences, National Institutes of Health (NCATS, NIH), was selected as the next chair of the Executive Committee, starting in 2016.
- In May 2016, it was decided that for the Consortium to continue to function efficiently, IRDiRC governance needs to adapt to the growth in size and diversity of its members and functions. The first of these adaptations is the renaming of IRDiRC’s largest representative body, formerly the Executive Committee, as the Consortium Assembly.
- In February 2017, the Third IRDiRC Conference was organized in Paris, France. This conference, around 300 participants from around the globe, attended the meeting to help shape the future of rare diseases research, and to celebrate achievements in the first five years of IRDiRC.