GLOBAL CHALLENGES

Group Seeks to Knock Out Rare Diseases

Vicki Powers | Date: 04-21-11 | Comments

An international consortium plans to collaborate on research to cure rare diseases by 2020.

For the millions affected by rare diseases (30 million alone just in the United States, according to RareDiseases.us), a new consortium is a boon for their future.

Specifically, the group will take aim at a major problem associated with rare diseases. That problem: With some rare diseases affecting only 200 people in the world, drug companies don�t invest in cures for the small numbers.

With this as the backdrop, the European Commission and the U.S. National Institutes of Health (NIH) earlier this month formed the International Rare Disease Research Consortium (IRDiRC).

The goal of the research consortium is to maximize limited resources and to coordinate and share research information worldwide. Its timeline focuses on delivering diagnostic tests for all rare diseases by 2020 � as well as new therapies to treat 200 of them.

NIH defines rare diseases as those affecting less than 200,000 people in the United States. Researchers trust that global collaboration will be the solution towards developing diagnostic methods for the estimated 7,000 rare diseases. Pooling information from diverse patients in as many countries as possible is critical to success.

Researchers will collaborate to develop diagnostic methods for the estimated 7,000 rare diseases by 2020. (Source: NIH)

This ambitious process focuses on mapping out research strategies to identify diagnostic biomarkers. Later it will design clinical trials and coordinate genome sequencing in these rare diseases. Some of the targets could include diseases such as Spinocerebellar ataxia, Fabry renal disease and Prader-Willi syndrome.

The consortium also will spawn new ways to develop alternative clinical-trial methods for diseases that affect just a few people. The current regulatory agencies � such as the U.S. Food and Drug Administration and the European Medicines Agency � rely on large, randomized and controlled clinical trials.

Similar to the Human Genome Project, this research consortium welcomes research organizations and agencies from around the world. Financial contributions are required, of course, along with sharing relevant data.

The project beginnings link back to a fall 2010 workshop where worldwide health agencies explored the idea of international cooperation in rare disease research. It provided a base point of current activities and helped leaders brainstorm areas that would most benefit from international cooperation.