A “rare” disease affects fewer than 200,000 people, but there are about 7,000 of them, meaning collectively, there are more patients with a rare disease than all of the cancer and HIV/AIDS patients combined.

That is a big number: 30 million Americans, and 350 million people worldwide.

Facing the truth

Even so, less than 5 percent of the 7,000 different types of rare diseases actually have treatment available whatsoever. There have been rapid advancements in the understanding of the molecular basis of disease.

These discoveries could be the basis for developing potential treatments. Unfortunately, most of them are stalled at the doorstep of drug development. This is because the scientists who make these discoveries are generally not experienced in designing the additional prototype development needed to produce a possible therapy.

Developing any drug is complex, expensive and slow. For every drug that is successfully brought to market, a dozen others fail. As such, companies can’t step in until they have more evidence that a discovery could lead to a drug that will work.

Our symptoms

The result is a big gap between the idea for a cure, which results from basic research, and the drug candidate that can be tested in humans and is attractive to pharmaceutical companies for development into new therapies.

New models are emerging to address the burden of hundreds of millions of patients with these rare but common diseases, and to address the collective healthcare system costs of this massive population of severely affected patients.