Rare Disease Research and the Road Ahead

In a series of articles, we will review those findings and add some insights from our experience working with those conditions. Let’s start with the basics.

Around 7,000 recognized conditions meet the definition of “rare.” Unfortunately, only some 1,300 rare diseases have drugs in development and only 5% have an approved treatment option. These numbers are essential. Just because 7,000 rare diseases have been identified, that does not mean that there are not more conditions out there that have not yet been diagnosed — there are. Some people have things wrong with them but don’t yet know that the culprit is a rare disease. At the same time, drugs are being developed all the time that could help provide relief, offer a cure, or form the basis of a treatment protocol that allows the afflicted to manage their conditions better.

Here is where it gets tricky. Developing treatments for rare diseases starts with identifying the root cause.

Modern medicine is getting pretty good at this. Thanks to sequencing technologies and advanced analytics, researchers can map out how an individual may have ended up with a rare disease. They can also screen more effectively for these conditions. Some next-gen applications involve previously unthinkable technologies, like facial recognition. It is an exciting time to be involved with rare disease research!

If a researcher can figure out how the condition came to exist, his or her team can begin to develop possible treatments.

Traditionally, rare disease research focused on small-molecule drugs, but medicine is continuously evolving. Molecular biology is a good example. Technological advances in that area have meant that the human genome can be mapped and largely understood. There is still room to grow this understanding, but it has already led to new treatments for rare diseases and other conditions alike.

This research has given rise to several therapeutic modalities. Each one works differently and offers the ability to treat or manage diseases uniquely. In a series of articles, we are going to look at each one in turn. We will discuss the technology around treatment as well as the strengths and limitations it possesses. We will also look at some of the ways that researchers have used the modality successfully.

Subsequent sections will include:

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