Spotlight on Rare Disease Day

March 1, 2012
Amy Ritter, PhD

Amy Ritter was Scientific Editor, BioPharm International.

Rare disease day is an annual awareness-raising event coordinated at the international level by EURORDIS, a non-governmental patient-driven alliance of patient organizations representing more than 502 rare diseases patient organizations in over 46 countries.

Rare disease day is an annual awareness-raising event coordinated at the international level by EURORDIS, a non-governmental patient-driven alliance of patient organizations representing more than 502 rare diseases patient organizations in over 46 countries.  This year marks the fifth that EURORDIS has coordinated the event, which was marked by outreach activities in more than 40 countries that centered on the theme of solidarity.   EURORDIS organized a summit in Brussels, Belgium on Feb. 29, 2011, featuring speakers from European governments, rare disease research groups, and patient advocacy groups who highlighted both the progress and the remaining challenges around developing medicines for rare diseases and bringing them to market in Europe.

In the US, Educational outreach to patient advocacy groups representing those with rare diseases was the focus of events held on Feb. 29 2012 at the NIH campus in Bethesda, MD and on Mar. 1, 2012 in Silver Spring, MD. Rare Disease Day was established to raise awareness with the public about rare diseases, the challenges encountered by those affected, the importance of research to develop diagnostics and treatments, and the impact of these diseases on patients’ lives.

NIH’s event was organized by the NIH Office of Rare Diseases Research. The focus of the presentations was basic and translational research that can be used to identify the causes of rare diseases and develop cures. Presentations highlighted basic research from NIH scientists on the mechanisms of certain rare diseases. Additional presentations highlighted the potential application of stem cell therapies for rare diseases, and the role that molecular biology can play in identifying disease mechanisms.

FDA’s event featured presentations by the Centers for Drug Evaluation and Research, the Center for Biologics Evaluation and Research, and the Center for Devices and Radiological Health, outlining the role that each agency plays in approving therapies for rare diseases. Presentations included an overview of the drug development and approval processes, and an explanation of accelerated review processes available for therapeutics intended to treat rare diseases. In addition, a presentation by the Office of Drug Shortages summarized the drug shortage problem and outlined the steps that FDA has been taking to alleviate shortages. This is of particular interest to patients with rare diseases because at least three drugs intended to treat rare diseases, Cerazyme, Fabrazyme, and doxil, are currently experiencing shortages.

Patient advocacy groups are playing an increasingly important role in influencing the development of new therapies. These events offer an opportunity for government organizations to engage with the public about government’s role in the development of new drugs, and in turn to gain the perspective of the public about rare, but unmet medical needs.

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