IRDiRC: Achievements and ambitious new goals for rare disease research
The International Rare Diseases Research Consortium (IRDiRC), was officially launched in 2011. It was formed at the initiative of the US National Institutes of Health (NIH) and the European Commission in order to unite public and private sector funders of research, patient advocacy groups, and scientific researchers so as to advance rare diseases research worldwide. IRDiRC was originally conceived with two main goals: to contribute to the development of 200 new therapies for rare diseases, and the means to diagnose most rare diseases by the year 2020. Six years after its official launch, the Consortium took stock of achievements to date at the 3rd IRDiRC Conference held in Paris in February 2017. The goal of 200 new therapies was attained earlier this year, ahead of schedule, and the community is well on its way to reaching the diagnostics goal. The Consortium is now looking to attaining new, more ambitious goals for the decade ahead.
Looking back: Achievements to date in the field of rare diseases research
Advances in diagnostics and therapeutics in the field of rare diseases over the past six years are attributed to a combination of factors and many players, including IRDiRC; a review of recent achievements in the field has been recently published by the Consortium for Clinical and Translational Science taking stock of advances in the field of rare diseases research since its establishment.
Progress in the area of diagnostics has been catalysed in recent years by the development of next-generation genomics and improved data sharing. This has resulted, in particular, in the faster discovery of causative genes, and thus the development of new diagnostics. A genetic test is now available for around 3,600 rare diseases, compared to 2,200 in 2010, and an average of about 260-280 rare genetic diseases have been discovered per year, according to data curated by Orphanet and Online Mendelian Inheritance in Man (OMIM). An approximate increase in diagnostic efficiency of 10% to 30-50% was also seen over the past six years.
Major public-sector research initiatives focused in this area have emerged in many countries, most notably at the initiative of IRDiRC members US NIH, the EC, and the Japan Agency for Medical Research and Development (AMED). However, the greatest transformative aspect in the field has been the engagement and collaboration between these public funders, industry and people living with rare diseases. The last six years have thus seen considerable progress towards the initial IRDiRC goals.
Looking forward: New rare disease research goals for the next decade
Following on from the success in attaining its initials in the therapeutics and diagnostics field, the IRDiRC has initiated a year-long collaborative process to devise goals for the rare disease research field in the next decade.
This new vision and set of goals for 2017-2027, audacious and pioneering in nature, were announced this summer.
The Consortium’s new vision is summed up in a sentence which speaks a thousand words for those living with a rare disease: Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.
In order to work towards this bold and ambitious vision, IRDiRC has set itself three goals for the next decade:
"1. All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline
2. 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options.
3. Methodologies will be developed to assess the impact of diagnosis and therapies on rare disease patients."
The progress toward the previous goals has shown that the international rare diseases research community is eager to share knowledge and experience, and work collaboratively across borders in order to bring diagnoses and therapies to patients. The momentum gathered must be maintained. The Consortium notes that these new goals can only be achieved with fundamental changes to the way science is conducted, shared, and applied to the care of rare disease patients. IRDiRC members have committed themselves to catalyse such changes and the Consortium hopes that others will share and help with this commitment to action.
In a recent article entitled Future of Rare Diseases Research 2017-2027 : An IRDiRC Perspective, the Consortium highlights that novel approaches to therapeutic discovery, as well as new models both for funding drug discovery and for covering treatment costs, are likely to be necessary for these goals to be met and for rare diseases to be treated in a comprehensive manner. Informed by the phenomenal progress enabled by the IRDiRC Scientific Committees, the Consortium has recently instituted three sector-specific Constituent Committees (Funders, Companies, and Patient Advocacy Groups), which are identifying areas of common need and opportunity within their sector, prioritising and addressing solutions via coordinated implementation activities. Substantial challenges remain but the 2017-2027 goals will surely help raise the bar for rare diseases research worldwide and improve the lives of those living with a rare disease.
For more information: IRDiRC Press Release
