Feb. 4, 2014: Advancing Rare Diseases Research, Honoring a Long-Serving Champion for Patients

As many as 25 million people in the United States are suffering from one of more than 6,500 rare diseases. Although each rare disease affects fewer than 200,000 Americans, in total, these illnesses affect a large part of our population. With NCATS’ emphasis on identifying commonalities among diseases as a route to accelerating the translational process, we are tackling the problems of rare disorders in an integrated way.

Obstacles to rare disease treatments include difficulties in diagnosis, widely dispersed patients and scientific experts, and the high perceived risk of developing such treatments.  NCATS’ rare disease initiatives, including the Office of Rare Diseases Research (ORDR) Therapeutics for Rare and Neglected Diseases (TRND) program, are directly addressing these obstacles and thus making rare disease translational research easier and more efficient for all.

Two events this month have caused me to reflect on the enormous progress made in rare diseases research over the past several decades. First, ORDR Director Stephen C. Groft, Pharm.D., will retire on February 8 from a position he held for the past 25 years, providing visionary leadership in rare diseases research and bringing hope and progress to patients across the globe. On February 28, NIH will celebrate Rare Disease Day, an annual event established to raise public awareness about rare diseases and celebrate advances in the field.

What Is a Rare Disease?
In the United States, a rare disease is generally considered to be a disease that affects fewer than 200,000 people. Rare diseases are sometimes called orphan diseases.

Steve has championed rare diseases research throughout his career, which began in the late 1960s at a small-town Pennsylvania pharmacy. His early work helping patients understand their conditions and medications spurred a lifelong focus and tireless efforts to forge relationships with members of the rare diseases community. When Steve began working at the Food and Drug Administration (FDA), rare disease patients faced an even tougher battle than they do today. Thanks in part to a crucial law Steve supported — the Orphan Drug Act of 1983 — R&D for so-called “orphan products” is now more cost-effective for pharmaceutical companies. The law’s passage marked a renewed focus on rare diseases and a coordinated approach among industry, government, scientists, patients and families, and patient advocacy groups.

Since 1983, the FDA has approved more than 450 orphan products to treat rare diseases. NCATS aims to ensure that number continues to rise as new research advances are made. The expanded role of patient advocacy groups as research partners, the Internet and social media as avenues for communication, publicity about genetic testing and gene therapies, and the global marketplace have cleared new pathways for scientific progress.

Steve and his colleagues have greatly fostered this atmosphere and laid the groundwork enabling many new discoveries. Now, instead of focusing on one rare disease at a time, we take a comprehensive approach to studying these diseases and their common characteristics. 

On February 28, Rare Disease Day at NIH will shed light on the latest research through feature talks, NIH Clinical Center tours, posters and exhibits from NCATS and other NIH Institutes and Centers; the FDA Office of Orphan Product Development, which Steve established in 1982; other federal agencies; and advocacy organizations. Support for Rare Disease Day is just one of the many ways that NCATS will remain committed to honoring and strengthening Steve’s legacy in this critical area of research, speeding advances that ultimately lead to improved health for patients counting on us to succeed.

Christopher P. Austin, M.D.
National Center for Advancing Translational Sciences