Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective

[...]one recent study from Western Australia concluded that in 2010 the state population affected by a limited cohort of only 467 rare diseases represented 2% of the population but 10.5% of in‐patient hospital costs. [...]improved diagnostics and targeted therapeutics that keep these patients healthier and reduce their time in medical facilities would be highly beneficial. With the addition of new members, and in particular Japan in 2015, IRDiRC aims to capture data from specific geographic‐regulatory regions. [...]from 2017 onward, IRDiRC will be tracking approvals by the Pharmaceuticals and Medical Devices Agency (PMDA) in Japan and more globally as other significant regulatory jurisdictions are added to the Consortium. Every successful gene discovery will not only unlock a potential diagnostic opportunity, but also has the potential to contribute to preventive and therapeutic opportunities for the corresponding rare disease, enabling precision medicine approaches for this patient population. [...]genetic linkages to rare diseases are extremely important and have incredible potential for rare disease patients. Other IRDiRC Task Forces include: i) the International Consortium of Human Phenotype Terminologies, which provided the community with standards to achieve interoperability between databases by enabling the linkage of phenotype and genotype databases for rare diseases ; ii) the Patient‐Centered Outcome Measures Task Force, which made recommendations on methods to support the development of patient‐relevant outcome measures for rare diseases in order to improve the quality of future trials and to provide data of relevance to the patient community ; iii) the Small Population Clinical Trials Task Force, which produced recommendations for efficient and innovative clinical trial designs relevant to small populations, often the focus of rare disease clinical trials, using scientific advice from regulators ; and iv) the Data Mining and Repurposing Task Force, which identified opportunities to leverage the existing research and patient data to realize the full potential of data mining and drug repurposing.