The global issue of rare diseases goes far beyond a handful of people living with uncommon conditions, according to new research that finds more than 300 million people around the world are living with a disease considered rare.
Researchers from Inserm, a French public health research agency, say the number of people living with a rare disease is equal to four percent of the world’s total population. The findings were published in the European Journal of Human Genetics.
The research centered on Orphanet, Inserm’s comprehensive database of rare diseases that includes more than 6,000 diseases. Nearly 3,600 conditions were analyzed by researchers, who excluded rare cancers and conditions caused by infection or poisoning. Researchers also found that more than two-thirds of rare diseases are genetic and 70% start in childhood.
In a press release announcing the results, Inserm said the statistics are important for identifying priorities of health and research policy and adapting management of rare disease patients.
While the prevalence of those living with a rare disease may be startling, Dr. Ana Rath, who led the research, said the findings may actually underestimate the scope of the issue of rare diseases.
“The majority of rare diseases are not traceable in healthcare systems and in many countries there are no national registries,” Rath said.