Rare Disease Day

by Ian Phillips

Rare diseases are not rare at all. They afflict over 20 million people in the United States, according to the National Institutes of Health. On February 28, the Center for Rare Disease Therapies at Keck Graduate Institute will join millions of people around the world in observing Rare Disease Day in an effort to increase awareness of these disorders and the problems that patients and their families face daily from them.

Rare Disease Day will bring attention to patients such as David and Babak Darvish. The Darvishes, both physicians in Los Angeles, are afflicted with Hereditary Inclusion Body Myopathy (HIBM), a rare genetic disorder that destroys human muscles, which has been gradually sapping away David and Babak's control of movement since they were in medical school. Now, some 11 years later and confined to wheel chairs, the brothers perform research to find a treatment for HIBM. They have discovered an errant gene that lies at the root of their disease, and founded an organization to raise funding for more research. Their example is heroic and hopeful.

HIBM is just one of approximately 7,000 rare diseases listed by the National Organization for Rare Diseases (NORD), a federation of patient advocates in the United States. As defined by the Orphan Drug Act of 1983, a rare disease affects 200,000 or less. The act also established a special office in the Food and Drug Administration to specifically approve special drugs designed to treat rare diseases. Some 1,800 drugs have been approved to date, but only 350 of them have been made available to patients, due to the high costs involved in drug development. This situation has left millions with no treatment or only limited therapy.

For drug companies looking to score billions of dollars from blockbuster drugs, a disease that affects a relatively small number of people is not an attractive investment. But some in the pharmaceutical industry are committed to meeting the needs of rare disease patients.

The Pharmaceutical Research and Manufacturers Association (PhRMA), the industry's lobbying representative in Washington, DC, is supportive of this movement, and companies like BioMarin in San Francisco, Genzyme in Boston and Sigma Tau in Maryland are specializing in rare disease therapies. They are not only finding innovative treatments, but also discovering that the market is bigger than was assumed-for what may be rare in the US, such as malaria, is quite the scourge in other parts of the world, enlarging the demand for effective treatments.

Rare Disease Day is now observed on the last day of February each year, after beginning in 2008 on the "rare" February 29 (due to leap year) by the European Organization for Rare Diseases. This year NORD will lead efforts in the US to honor Rare Disease Day. KGI's Center for Rare Disease Therapies is part of the US coalition supporting NORD and Rare Disease Day. A non-profit center, the Center works with the NIH Office of Rare Diseases, the FDA's Office of Orphan Products Development and pharmaceutical companies to educate students, future researchers and industry leaders in all aspects of helping increase therapies for rare diseases.

Ian Phillips is the director of the Center for Rare Disease Therapies at Keck Graduate Institute in Claremont, California. He is also the Norris Professor of Applied Life Sciences, specializing in stem cell research.