International Rare Disease Research Consortium Commits to Aggressive Goals

Many prominent funders, researchers, clinicians, and advocates have joined together to launch the International Rare Disease Research Consortium (IRDiRC). Leadership from the European Union, Canada, and the United States convened in Iceland and Bethesda, Maryland, in late 2010 and early 2011, respectively. The assembled group, of which Genetic Alliance is a part, determined that the status quo of rare disease therapy development will not suffice; bold, new goals are needed (Abbott, 2011; Petrone, 2011). Traditionally, rare disease therapy development has faced the same challenges as common conditions, with the additional hurdles imposed by small, geographically dispersed patient populations. Lack of incentives, which cascade from small markets and low-powered studies, and lack of tools—biospecimen, high-quality antibodies, and animal models—also hinder research. Additionally, the dearth of natural history studies makes it more challenging to identify clinically meaningful biomarkers and endpoints in rare diseases, impeding clinical research. Therefore, despite legislative efforts in the United States and abroad, limited financial incentives exist to entice private companies to invest in the costly research and development process needed to bring new therapies for rare diseases to market (Forrest et al., 2011).

However, with extraordinary challenges come unparalleled opportunities. The added challenges faced by the rare disease community create strong incentives for the type of widespread collaboration needed to advance all research, on both rare and common conditions. The IRDiRC is capitalizing on the shared obstacle inherent in rare disease research by building the shared infrastructure needed to systematically advance research on all conditions. By harmonizing datasets, standardizing research results, improving access to data, establishing best practices, and increasing global communication on rare disease research, the IRDiRC will create a common platform and culture to accelerate global rare disease research. Equally important, the IRDiRC will work to promote openness and greater data sharing, helping to create the culture of collaboration needed to move the ball forward.

The goals set forth this spring by the IRDiRC are ambitious: to develop diagnostic tests for all rare diseases (there are almost 7000) and to create 200 new therapies by 2020. To acquire funding outside the traditional structure, the IRDiRC requires countries seeking to participate in this unprecedented public-private partnership to invest a set amount of money over a period of 5 years. Rather than pooling money into a common fund, the IRDiRC has decided that the money will remain within the country of origin. The European Union, United States, Canada, and several European countries have pledged to join this unprecedented international consortium. Any funder is eligible to apply—whether government, industry, or nonprofit.

IRDiRC working groups are convening to keep the agenda advancing quickly. Between now and the next meeting, scheduled for October 2011 in Montreal, Canada, the group will continue to strengthen collaborations and seek new funders. In particular, funding from the pharmaceutical industry, diagnostic companies, regulators, and disease advocacy groups is needed.

The value of the IRDiRC lies not only in its ability to advance rare disease research and impact the lives of the millions of individuals touched by rare diseases worldwide, but also to illustrate the transformative power of openness and collaboration in research. Where else, if not in rare diseases, can communities come together in novel ways that will make an impact on the world in the near future? This experiment will change the way we do business, at least in rare diseases, and most likely in the world of common conditions as well. Stay tuned or join us!