Rare Disease Research and the Road Ahead

Clinical research has grown in leaps and bounds. Researchers now have the tools to understand many of the world’s rarest diseases at a molecular level. At the same time, current legislation supports the development of treatments to address these rare conditions. However, challenges in this realm persist. A recent article in Nature reviewed the challenges in rare disease development as well as the opportunities that different rare disease development platforms present. 

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.

Rare Disease is Not THAT Rare

Rare disease is an exciting field that transcends singular therapeutic areas. A condition may be considered unique because it has a low incidence – but don’t let that fool you. There are more than 350 million people around that world that have a rare disease. To put that number in perspective, if you had $350 million in dollars, you could give every single person in the world a nickel. It is also seven times the number of hamburgers that McDonald’s sells in a day counting all of its locations around the world, six times the number of people that visit a Starbucks in a given week, and roughly the same as the number of people around the world that have been diagnosed with depression. 

That is a lot of people, and it probably includes someone you know. In the United States, around 30 million people are estimated to have a rare disease. Considering that just under 330 million people are living in the US, that means that one in 11 people is affected. This means that if you have 440 Facebook friends, 44 of them could have at least one rare disease.

What is Rare Disease?

It depends on where you live. In the US, a rare disease is any condition that less than 200,000 people have. In Europe, the official definition of a rare disease requires that it occurs in one out of 2,000 people or fewer.

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.

What Causes Rare Diseases?

Rare diseases may manifest in different ways, but they appear to have some common causes. One of these is inheritance – a Mendelian inheritance, to be exact. Mendelian inheritances involve recessive genes. People inherit the genes for a condition without realizing it. These people are called “carriers.” For the disease to develop, one carrier needs to mate with another carrier, and that offspring needs to inherit the necessary genes from both parents. Sickle-cell anemia is one example of this, as is cystic fibrosis, hemophilia, or blue eyes. 

Roughly 72% of rare diseases have some genetic basis. A range of issues causes the remainder. Bacterial infections and viruses are possible causes as well as allergies or the environment where a person lives. Indeed, anyone could be affected by a rare disease at some point in their life.

How Do You Treat Rare Disease?

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.

Understanding the Science of Rare Disease Research

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. Over the next four weeks, 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:

1.     Small Molecules
2.     Antibodies 
3.     Protein Replacements 
4.     Oligonucleotides 
5.     Gene Therapy
6.     Drug Repurposing

There will also be a companion piece: The Future of Rare Disease Research. It will summarize some key findings and elaborate on where we see rare disease research evolving.You can also visit our website for more information on our rare disease experience.