Launch of the International Rare Disease Research Consortium sets some ambitious goals
In early April, regulatory agency stakeholders, researchers, patient group representatives, members of the biopharmaceutical industry, and health professionals gathered for the second meeting and official launch of the International Rare Disease Research Consortium (IRDiRC). Following a successful preparatory meeting in Iceland in October 2010 (learn more), the second reunion picked up the pace with the endorsement by members to fulfil certain goals, including, notably, a commitment to the development of 200 new rare disease treatments by the year 2020 and the development of diagnostics for all rare disorders. Related challenges identified include the need to establish and provide access to harmonised data and samples, perform the molecular and clinical characterisation of rare diseases, boost translational, preclinical and clinical research, and streamline ethical and regulatory procedures.
Unprecedented cooperation…
Formed under the auspices of the US National Institutes of Health (NIH) and the European Commission, the IRDiRC will involve “an unprecedented cooperation at the international level” in order to fulfil the ambitious goals defined. As such, public and private stakeholders from all over the world are invited to join the fight to alleviate the suffering of rare disease patients and their loved ones. Participants included representatives from Canada, and individual European countries (France, Germany, Italy, Spain, and the UK, amongst others). Genetic Alliance president and CEO, Sharon Terry, who participated in the three day meeting, commented on the Genetic Alliance website that, "The energy generated by having concrete goals, with the commitment and leadership of major international funders throughout the entire meeting, was palpable. Now it is time to roll up our sleeves as a community, and focus our energy getting the business plan in place to succeed."
The loaded agenda began with an analysis of ongoing research efforts and future challenges, including a breakdown of country-specific activities. The conference then gave over to several breakout sessions on offer, including an Understanding of Pathophysiology of Rare Diseases (including genomic analysis by next generation sequencing, and animal and iPS cells models of rare diseases); Ontologies/Disease Classification/Natural History; Biomarkers; Patient Registries and Biospecimen Repositories; Preclinical Research and Clinical Trials; and Communication/Publication/Information/PR/Data Policy. The meeting wound down with a report and conclusions from the breakout sessions.
The next steps
A scientific and policy framework must be developed in order to “guide the research activities and foster collaboration among the stakeholders to systematically explore all the opportunities to accelerate the development of diagnostics and therapies for rare diseases”. Funding and budget considerations also need addressing. It is anticipated that the governance of the project will be modelled after the Human Genome Project – and thus be open to research bodies from around the world. It is probable that a minimum financial contribution will be required by participants, although no figure has yet been determined. Participants would also have to share all relevant data, a process that would help harmonise terminology and nosology between countries. A third meeting is being planned in Montreal, Canada, in the days preceding the 12th International Congress of Human Genetics in early October. Until then, the consortium members will focus on strengthening cooperation and reaching out to new members.