Rare goals: a diagnostic tool for every orphan disease by 2020

Launched this week, the International Rare Disease Research Consortium aims to develop a diagnostic tool for every rare disease and new therapies to treat hundreds of them.
Written by Janet Fang, Contributor on

Von Hippel-Lindau syndrome. Serpiginous choroiditis. Prader–Willi syndrome. Polycythemia vera. Leiomyosarcoma. Fabry disease. Spinocerebellar ataxia. I could list thousands more.

Rare and likely unheard of, these and other orphan diseases affect fewer than 200,000 people each. Some affect only hundreds worldwide, and still others haven’t even been named.

This week, a global collaboration aimed to find therapies for rare diseases is being launched by the National Institutes of Health and the European Commission at a meeting in Maryland.

The small numbers of patients make it difficult to test new treatments and develop diagnostics. Drug companies searching for the next blockbuster pay little attention to these diseases, which are usually incurable, Nature News reports.

Some goals of the International Rare Disease Research Consortium thus include:

  • develop a diagnostic tool for every known rare disease by 2020.
  • find therapies to treat 200 of them.

Nearly all the rare diseases – an estimated 6,000–8,000 – are the result of small genetic changes. To that end, the consortium will be mapping out strategies to identify diagnostic biomarkers, design clinical trials, and coordinate genome sequencing.

"The number of individuals with a particular rare disease is so small,” says the commission's Ruxandra Draghia-Akli, “that we need to be able to pool information from patients in as many countries as possible." Participants pledge a minimum financial contribution and share all relevant data.

Regulatory groups like the Food and Drug Administration rely on large, randomized and controlled clinical trials when deciding whether to approve new medicines, Nature News explains, and one of the consortium's aims will be to develop alternative clinical-trial methods for diseases that affect few people.

These methods are becoming ever more important now that genome analysis is breaking down common diseases into ever smaller subclasses.

"Soon there will be no disease called breast cancer," says Draghia-Akli. Instead, the catch-all term will be replaced by "a large number of rare diseases, each of which causes malignant growth in breast tissue and requires individual treatment," she says.

The 4th International Rare Disease Day was on 28 February. To mark the event, a group called Inspire released a compilation of narratives [pdf] from patients with rare diseases. It might help someone find treatment for something they weren't sure they had.

Image: NIH

This post was originally published on Smartplanet.com

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