Moira Gunn, PhD: Challenges of Developing Rare Disease Therapies

One of the most prominent challenges facing patients of any rare disease is access to and availability of potential treatments.

Even with a push from agencies like the US Food and Drug Administration(FDA) that resulted in approval of 38 novel therapies for rare diseases in 2018, many of the 7000 rare diseases still lack approved therapies.

At the 2019 National Organization for Rare Diseases (NORD) and Orphan Products Breakthrough Summit, the topic of developing new therapies and advanced methods of diagnosis were a hot topic of discussion both in the hallways and during formal panel discussions. With such an array of conditions fitting the designation of rare disease, developing novel therapies often presents unique challenges.

Moira Gunn, PhD, professor of bioentrepreneurship at the University of San Francisco, has frontline experience into the struggles scientists and healthcare professionals experience when attempting to create novel therapies. To learn more about the hurdles those in healthcare face when creating therapies for rare diseases, MD Magazine sat down with Gunn at NORD Summit 2019 for her perspective.

MD Mag: What are the biggest challenges in creating therapies for rare diseases and are they different from challenges faced in previous years?

Gunn: Well, I'm a professor of bioentrepreneurship within the biotechnology program. And the point is, is that we can have a lot of breakthroughs in science, but we got to get it from the lab bench to the person—to a registered product. That's different in the United States as it is in all the various over 100 countries of the world, but, of course, right here in the United States is the largest market and the largest amount of innovation the largest effort. I would like to say that I don't look at how it may have been harder before—challenges were such that we just kept waiting for new technologies and waiting for new science, and we have those, but whatever it is, we can't seem to get there fast enough.

The great news today is that people's genes can be decoded. Not only their DNA but their RNA. So, their DNA could be fine, but their RNA doesn't express those genes correctly into proteins or doesn't produce the protein at all. There's just so many things that one can do with diagnostics to see what's in your blood or, or any of the output, even your skin cells, whatever is there.

So, we have a lot more information now. We frequently don't know what we're looking at. Even in the general population that's healthy, we have to look at a whole lot of people and all their data to understand what is the pattern, what is normal. We don't even have that we're at the beginning of a big bang of information about all humans. So, when we're talking with someone with a rare condition that we know is a rare condition—because for some reason, there is a problem—we're actually today working with limited information. So as we go forward, we're looking at much more information.

The most important part, though, is how do we get from the lab bench to registered product? So many things are involved in that—whether it's protection of intellectual property—so that you can take advantage of the Orphan Drug Act, as an example. There are not just laws, but there's accounting, there are information systems, which are handling systems that we've never seen before this kind of data, much less cross analysis of data.

We're talking about social policy. We're talking about multinational expertise. We're talking about ethical considerations. There are so many aspects to this that have to be understood and honored—In addition to the media, how are you represented in the media? How are your treatments, potential treatments in the media? And, of course, so many of these genetic disorders can be one of a kind or just a few.

So, we're looking at challenges, but the big thing that I think we're doing is taking information, trying to get more and more information, trying to understand what that information means so that someone comes in with a condition we've never seen before, may never see again—it's one of a kind—but we can narrow it down. So, that's the diagnostic part where we can narrow it down. Then, we can use that information to see what treatments will and will not work. So that's the very exciting portion of it, but to understand that it's not just the science or the technology. There are many aspects to this. Many people can play a role. They have to understand all of it needs to happen.