Medical research: Next decade's goals for rare diseases

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The International Rare Diseases Research Consortium (IRDiRC) has in the past six years achieved its ambitious goals for 2020 — three years ahead of schedule (see Nature 472, 17; 2011). The consortium has now forged a further set of goals for 2017–27 to help the millions of people who have debilitating and lethal rare diseases.

Rare diseases were once considered medical curiosities of inscrutable phenotypic complexity and negligible public-health impact. The molecular basis of almost 6,000 rare disorders is now known. However, diagnosis of most of these conditions remains arduous, and less than 6% have approved treatments.

The new IRDiRC goals aim to achieve diagnosis within one year. Because diagnosis depends on a disorder being known, this will be accomplished through international coordination of unsolved cases. Other goals are to develop 1,000 new therapies, particularly for diseases with no approved treatment, and to create methods for assessing the impact of diagnoses and therapies on patients' well-being. (For details, see H. J. S. Dawkins et al. Clin. Transl. Sci., in the press; and C. P. Austin et al. Clin. Transl. Sci., in the press.)

The IRDiRC has nearly 50 organizations in 18 nations, with a combined yearly funding of more than US$2 billion (see New members are welcome to join this globally coordinated effort.

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  1. National Centre for Advancing Translational Sciences, Bethesda, Maryland, USA.

    • Christopher P. Austin
  2. Office of Population Health Genomics, Government of Western Australia, Perth, Australia.

    • Hugh J. S. Dawkins

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