3rd International Rare Disease Research Consortium Conference

The 3rd International Rare Disease Research Consortium (IRDiRC) conference was held last week in Paris. It brought together international experts in the fields of public health, funding agencies, academic research, patient advocacy and health industry to discuss the progress in the rare disease field and to set new goals for the next decade.

The conference started with an introduction to the IRDiRC history and achievements.

Ruxandra Draghia-Akli from the European Commission introduced the IRDiRC 2010-2020 headline goal of having 200 new therapies and means to diagnose most rare diseases by 2020. The IRDiRC, formally launched in 2012, has over 40 members of several institutions around the world.

Paul Lasko from the McGill University in Canada introduced the IRDiRC basic principles of cooperation at international level to stimulate, coordinate and maximise output of rare disease research efforts around the world. The IRDiRC teams up public and private organisations investing in rare diseases research. The research funders can join and work together but each organisation funds research its own way adhering to a common framework. Diagnostic projects funded by IRDiRC members have been the major factor in the discovery of ~1400 new rare diseases and have led to the optimization of NGS pipelines in a clinical setting.

Christopher Austin, chair of the IRDiRC, explained how the 2010-2020 IRDiRC objectives have already been achieved and the new objectives are being formulated. A consultation process is ongoing to develop new goals to be published in Spring 2017.

The second session of the conference aimed to give a global view of the rare disease field in 2017.

Makoto Suematsu, from AMED in Japan, presented the AMED program – Initiative on Rare and Undiagnosed Diseases (IRUD) – created to improve the life of rare disease patients, to promote global data sharing and the centralization of expensive analysing machines and to create matrices to check quality of projects. The IRUD Regional Alliance Hospital Network includes >200 hospitals in Japan and >2000 registered families with rare diseases. Another successful collaboration promoted by AMED is the SCRUM-Japan, an academia-industrial collaboration program incentivising data sharing among pharma sectors in the rare disease field.

Irene Norstedt and Caroline Hager from the European Commission gave an overview of the rare disease field in Europe. There are ~6000 diseases affecting ~30M EU citizens. So far, 128 orphan medicines have been authorized addressing 142 conditions. Since 2007 over €800M has been invested in rare disease research. EU investment in rare disease research increases every year, for Horizons 2020: to date €200M has been invested into 44 projects. An interesting projected funded by the EU – the RD connect project – is bringing together different platforms providing tools for rare disease online analysis. They also mentioned the Orphanet consortium, the clinical trials projects – ASTERIX, IDeAl, InSPiRE, and the European Reference Networks (ERNs).

Petra Kaufmann from the National Center for Advancing Translational Sciences (NCATS) presented a perspective on North American rare diseases research. Her key points on how to make a difference for rare diseases were the smart use of data, creating a research consortium, partnering for success, engaging the next generation of researchers, integrating care and research and integrating data from multiple sources. Petra also mentioned the importance of continuity of data, data standards and the importance of having ‘end-user’ in mind. She also presented the NCATS Toolkit project that aims to create a source for online educational and informational research tools that patient groups can access along with context, to improve coordination rather than re-create existing resources and to promote continuity across the lifecycle of the drug development process.

Hugh Dawkins from the Western Australia (WA) Department of Health presented the Australian perspective. Australia has a dispersed population and resources and 6-8% of Australian population with undiagnosed diseases are “invisible” in the health system. The WA Department of Health decided to start collecting information about rare diseases. They surveyed patient organisations, explored the existing clinical services, the local information, used genomic policy makers and finally created the WA Rare Disease Strategic Framework 2015-2018.

Anders Olauson from the Agrenska Foundation in Sweden presented the UN NGO Committee for Rare Diseases. This UN meeting started with the need for a global platform to share the knowledge that we have and to make sure that it is applicable for all socio-economic and cultural contexts, to explore what more could be done to advance knowledge of rare diseases at a global level, to connect rare diseases stakeholders across borders, to collaborate with other stakeholders to exchange knowledge and expertise and finally for recognition and attention at the UN level, where rare diseases remain an area little explored, with great social and economic impact. The focus of this UN committee should not be just on research and drugs but also on education, fighting discrimination and helping people cope with living with a rare disease.

Several other sessions focussed on diagnostics and therapeutics research, on trends in patient advocacy and a final session considered the IRDiRC goal-setting for 2017-2027, which we plan to discuss in future blogs.

This kind of event is crucial to promote dialogue and collaboration between stakeholders in a field that should be part of the global health agenda. Everyone who participated left the conference more informed, motivated and empowered to work together to improve the lives of people living with rare diseases globally.

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