In the past, research into rare diseases took a backseat because the numbers were not promising enough. Here, it is important to note what constitutes rare diseases. As per the United States (U.S.) classification. Rare disease is one affecting less than 200000 people.
While on a plane of singularity, the numbers are indeed meek, together, they manifest strength. For instance, in the United States itself, there are about 25-30 million people suffering from one or the other rare disease.
Again, here, it is important to note that, a particular health problem may fall into the category of rare disease. However, the collective impact of rare diseases is wide. And, just because the individual figures couldn’t grasp the attention of Pharmaceutical players, the collective numbers might flare up imaginations.
A comprehensive record of rare diseases – Orphanet database – gives a staggering number. According to the analysis, about 300 million people suffer from rare diseases worldwide.
Prior to the analysis, it was hard to achieve precision of prevalence as population registries did not come into the big picture. Besides, like the United States, numerous other countries are not tracking the incidence of rare diseases. And, so it surprises non that real figures are tricky to find.
The European Journal of Human Genetics is carrying details of the analysis.
Orphanet Analysis – Background
In 1997, INSERM established Orphanet to raise awareness levels regarding rare diseases. The idea was to contribute to knowledge regarding prevalence, diagnosis and treatments available. As of now, there are 40 countries, working in sync – pooling critical data, to improve outcomes and understanding.
So, Orphanet was a result of realization that actual data was a low estimation of reality. And, it was a result of knowing that healthcare systems are lagging in tracking rare diseases. And, the fact that national registries were missing was a concrete proof.