Remember the “Ice Bucket Challenge” from a few years ago? Thanks to this celebrity-fueled craze, this "rare disease" was shoved under the public's eye and received $115 million dollars in funding donations in just 30 days, helping provide a major genetic breakthrough towards understanding the disease.
Today is Rare Disease Day – an annual call to arms to raise awareness of the 7,000-odd “rare diseases” that affect millions of people each day.
In the US, a disease is defined as rare if it affects fewer than 200,000 Americans at any given time. In Europe, a disease is defined as rare when it affects fewer than one in 2,000. So while the term “rare disease” might suggest otherwise, there are around 350 million people out there living with one of these rare diseases. Many more perhaps go undiagnosed or misdiagnosed.
The problem lies in awareness, diagnosis, funding, and research. Rare diseases and disorders are less likely to receive the funding and awareness required to accelerate research.
While the more prevalent diseases such as cancer, heart disease, and stroke understandably take precedence in science’s “things to do list”, it’s crucial these millions of people with rarer diseases don’t get left behind.
But while there’s a lot of work to be done, the past few years have shown progress when it comes to rare disease research. In 2015, 47 percent of novel new drug approvals were for rare diseases, and 566 medicines are in development for patients with rare diseases.
Here’s just a handful of rare diseases that with a little more attention, funding, and research could improve the lives of many. From the fascinating to the well-known success stories, all of these diseases can be found in the Orphanet Report Series (PDF) on rare diseases in 2016.
Fibrodysplasia ossificans progressiva, aka “Stone Man Syndrome”
“Stone Man Syndrome” (image right) is a genetic disorder that turns soft tissues, like muscle tissue and connective tissue, into bone. Eventually, movement becomes severely constrained and bone begins to grow on the outside of the body. Only a few hundred cases have been reported and there is little in the way of medical treatment.
Image of a skeleton with Fibrodysplasia ossificans progressiva. Joh-co/Wikimedia Commons CC BY-SA 3.0
This condition is characterized by a lack of premolar teeth, excessively sweaty hands, and a premature graying of the hair. Originally described by Swedish geneticist Jan Jarvid Böök in the 1950s, just 26 published cases of this disease have been reported.