A landmark study has for the first time quantified the global burden of rare diseases, estimating around 300 million people affected—far more than previously thought.
Conducted by French researchers at Inserm (National Institute for Health and Medical Research), this pioneering study—published in the European Journal of Human Genetics—marks the first comprehensive count of people living with rare diseases. In a October 26, 2019, press release, Ana Rath from Inserm's Rare Diseases Platform (US14-Orphanet) noted: "Rare diseases are poorly understood, leading many to assume patients are few. Collectively, they represent a significant portion of the population. Though each is unique, they share the challenges of rarity."
In Europe, a disease qualifies as rare if it affects fewer than 5 in 10,000 people. This includes conditions like neurofibromatosis, Batten disease, Creutzfeldt-Jakob disease, and various amyloidosis. Over 6,000 such diseases exist, yet most remain understudied, poorly documented, and little known.
Inserm US14 researchers analyzed point prevalence data for 3,585 rare diseases, excluding rare cancers and infection- or poisoning-related conditions. Their findings: 3.5% to 5.9% of the global population—approximately 300 million people, or nearly 4%—live with rare diseases at any given time.
This reveals that rare diseases, collectively, are not rare. It underscores the need for robust public health policies tailored to these conditions.
Study leaders highlight gaps, such as missing national registries in many countries. Better data on patient numbers and diagnoses would improve estimates, visibility in healthcare systems, and support.
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