Nature
Volume 472 Number 7341 pp5-130  7 April 2011
http://www.nature.com/nature/current_issue.html

Rare-disease project has global ambitions
Consortium aims for hundreds of new therapies by 2020.
Alison Abbott

Prader–Willi syndrome. Fabry renal disease. Spinocerebellar ataxia. Few people have heard of these and the other ‘rare diseases’, some of which affect only hundreds of patients worldwide. Drug companies searching for the next blockbuster pay them little attention. But the diseases are usually incurable — and there are thousands of them.

This week, the US National Institutes of Health (NIH) and the European Commission launch a joint assault on these conditions, whose small numbers of patients make it difficult to test new treatments and develop diagnostic methods. The International Rare Disease Research Consortium being formed under the auspices of the two bodies has the ambitious goal of developing a diagnostic tool for every known rare disease by 2020, along with new therapies to treat 200 of them. At the launch meeting in Bethesda, Maryland, on 6–8 April, prospective partners will map out research strategies to identify diagnostic biomarkers, design clinical trials and coordinate genome sequencing in these diseases. Nearly all the rare diseases, of which there are an estimated 6,000–8,000, are the result of small genetic changes.