QuickCheck: Are there more people with rare diseases than the entire Malaysian population?

It has been claimed over the last five years that if all the people with rare diseases around the world came together to form a nation, that country would have a population ten times larger than Malaysia's.

Is it true that there are that many people living with rare diseases globally?



A 2019 research paper published in the European Journal of Human Genetics calculated that there are at least 300 million people living with a rare disease worldwide.

In contrast, World Bank statistics show that the population of Malaysia stood at an estimated 32.8 million people in 2019.

As summarised in an article by the American Journal of Managed Care, researchers found that on average, 4% of the total world population is affected by a rare disease at any given time and the study derived this figure from then-new research on 3,585 rare diseases.

In reaching the estimate, researchers excluded rare diseases caused by infection or poisoning, cancers and used a method to add together a measurement system that took into account the different definitions based on legislative systems.

An example of this would be how a rare disease was defined – in the European Union, a rare disease is defined as a condition affecting 50 in every 100,000 people, while in the United States it is roughly 86 per 100,000.

As was summed up by Ana Rath of Inserm US14, an information and service platform for rare diseases and orphan drugs, such people actually are a larger chunk of the population out there than we might assume.

"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," said Rath.

"Although rare diseases are individual and specific, what they have in common is their rarity, and the consequences which result from that," they added.

With that said – and factoring local and global population growth trends into account – it could be argued that this figure is still most likely true as of 2024.








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