In Bethesda, Maryland, this week, representatives from the National Institutes of Health (NIH) and European Commission are helping to launch an International Rare Disease Consortium to develop a diagnostic tool for every known rare disease by 2020, along with new therapies to treat 200 of them, according to an April 4 Nature article. The goal is quite ambitious—similar to the UN’s Millennium Development Goal targets to eliminate worldwide poverty by 2015—but it’s a task well-worth pursuing.

According to the NIH website, a rare (or orphan) disease is generally considered to affect fewer than 200,000 in the United States. Because drugs for rare diseases do not affect blockbuster-size patient groups—or bring in the accompanying blockbuster revenues—they are often ignored by large drug developers. Orphan-drug status and grants provide some incentive in this regard.

But ultimately, it’s about the patients in need. It’s likely that everyone reading this blog knows someone who knows someone with a rare disease. And these conditions need cures and treatments just as any disease.

It’s nice to see, therefore, that rare diseases are attracting global attention from industry and regulators alike. In addition to the NIH-EU consortium, FDA launched a database last June to spark rare-disease drug development. The agency also created a new Associate Director for Rare Diseases position to complement the work of its Office of Orphan Products Development. Also last summer, Pfizer established a rare-disease research unit to pursue treatments in various therapeutic areas, and to provide scientific and technological resources to find new treatments for patients with rare conditions. And over the past few years, the US and EU have collaborated to adopt a common application for drug manufacturers seeking orphan designation for their drug products. (See related article). More trans-Atlantic efforts in this area are underway.

The NIH/EU project is expected to be conducted in a similar fashion to the Human Genome Project so that data from various researchers around the world can be shared. Part of the work will focus on developing clinical-trial methods for diseases that affect smaller populations.

Related link

NIH hosts a webpage devoted to rare diseases.