Diseases in orphan

Rare Diseases: Orphans in DangerPeter Saltonstall


Rare Diseases: Orphans in Danger

For rare diseases and orphan products, the future looks promising, but as Peter Saltonstall finds, significant research, educational and policy challenges remain. A view from one of the patient community's staunchest advocates

This is an encouraging time for people who have a rare disease. One third of the new drugs approved in recent years by the FDA have been orphans. For some rare diseases, such as Gaucher disease and homozygous familial hypercholesterolemia, there are now multiple approved therapies.

The genomic revolution promises to identify innumerable opportunities for new therapies. Investors have recognized that there is a business model for a company that makes drugs intended for patients with rare diseases. Many of the major drug companies have created divisions devoted to orphan drugs.

At the same time, there is a long way to go. There are nearly 7, 000 diseases that are categorized by the NIH as rare—that is, affecting 200, 000 or fewer Americans. Only a few hundred of these diseases currently have approved treatments. While each rare disease affects a relatively small number of people, rare diseases collectively affect nearly 30 million Americans, or one in 10.

We all know someone who is alive today because of the remarkable medical advances of recent years. But the patient advocacy community still faces a remarkable number of challenges:

1 More research dollars for rare diseases: It is ironic that we are on the cusp of so many scientific advances at a time when federal and private industry research dollars are becoming scarcer. Most rare diseases are genetic in nature. The human genome project has opened up so many new avenues for research. We will never have unlimited dollars, but if only we could pursue additional potentially fruitful leads, we would see an acceleration in new therapies.

2 Diagnosing rare diseases: Unless a physician specializes in diagnosing and treating rare diseases—and comparatively few do—most practicing physicians have little experience in diagnosing one. In some cases, a blood test is all that is needed, yet I hear story after story from parents about how challenging it was for them to secure an accurate and reliable diagnosis for their child. For many diseases, it can take half a dozen years or longer before an accurate diagnosis is made.

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Popular Q&A

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orphan diseases what are orphan diseases?

"Orphan disease" is a description assigned to one of the more than 6,000 rare diseases that affect relatively small numbers of patients.

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