Having a rare disease means you could have one of any of 5,000-7,000 distinct disorders, each with their own quirks. Just how many there are though remains unclear. As originally reported in News Medical, that’s a problem according to Dr. Tudor Oprea of the University of New Mexico, who has recently worked on a project that attempted to count them but was left in the blurry gray area that many rare diseases are stuck in. He says without proper classification, the diseases can never be treated effectively. A definition and clear category of a disease is the base for research, and without precision in definitions, they cannot give diagnosis or pull samples for treatments. He says that despite plenty of research published each year on rare diseases, very little progress is made on cures. He thinks clear universal definitions are a necessary prerequisite to progress in rare disease treatment.
Why Don’t Rare Diseases Have Clear Definitions?
There are various barriers to setting definitions straight. One is the inconsistency in what qualifies as a ‘rare disease’ in different countries. In the United States, a rare disease is defined as affecting fewer than 200,000 people. In Europe, its one in 2000. Further, different countries may define the diseases using different aspects of the disease or the scientific community may have imprecise definitions in the first place. A disease can also encompass many variations. When is a variation distinct enough to deserve a distinct place as a unique disease? Without this unique category, it is unlikely much research will be detailed enough to address the specific variation because it is lumped into a bigger, less precise category. This failure to create precise parameters hinders the ability to diagnose patients because doctors don’t even know what exactly the disease means. Without diagnosis, there are not many patients to use for research and to further treatments for the disease. Thus the cycle goes on.
Oprea explained the Mondo Project is using computer technology to compile all the different information and individual works made on rare diseases and processing it together. This project involved researchers worldwide who analyzed an international database and determined there could potentially be thousands of rare diseases not yet included in numbers. Oprea believes the need to clean up definitions is pressing, and urges the World Health Organization to come up with a consensus and set worldwide standards in order to advance research and diagnosis. Clear definitions are the first step to scientific discovery.
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