Over 300 million people around the world are currently living with a rare disease. The estimate, created to draw the attention of policymakers and healthcare experts, is based on a database containing information on the prevelance of rare diseases pooled from scientific literature. Analysis of the data revealed that at any given time, 3.5 to 5.9 per cent of the global population suffers from rare diseases.
A dearth of information on rare diseases prompted Inserm, a reserach institute, to assimilate data on these conditions. From their analysis they found that rare diseases are not all that rare and urge public health policies at global and national level to address this issue.
In their study, the team analyzed data on the prevalence of 3,585 rare diseases from scientific literature. And from more than 6,000 diseases described in the database, they found that 72 per cent were genetic and 70 per cent began in childhood. The analysis also showed that of the rare diseases that were examined, 149 of them were causing 80 per cent of the cases globally.
The final picture showed that about four per cent of the world's population — 300 million people — are suffering from rare diseases.
Such analysis, designed to help people suffering from rare diseases, could feed into public policy. "Such figures are needed if we are to identify priorities for health and research policy, understand the societal burden of these diseases, adapt the management of patients and, more generally, promote a real public health policy for rare conditions. Given that little is known about rare diseases, we could be forgiven for thinking that their sufferers are thin on the ground. But when taken together they represent a large proportion of the population. Although rare diseases are individual and specific, what they have in common is their rarity, and the consequences which result from that," emphasizes Ana Rath, from Inserm and the author of the study.
In the future, the team will focus on collecting and analyzing data on rare diseases excluded from this study, including cancers and other rare diseases caused by infectious agents or environmental factors.