Up To 8,000 Rare Illnesses Exist In The World

Up To 8,000 Rare Illnesses Exist In The World
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The Rare Diseases International Day is on this Wednesday, February 28th.However, the scientists do not know exactly how many rare diseases exist in the world, but they estimate that there are up to 8,000 rare diseases.

These rare diseases affect a small number of people only, globally

A disease can be considered a rare one only if less than one individual out of 2,000 is affected. Today, between 6,000 and 8,000 rare diseases have been described worldwide, but scientists continue to discover between four and five such diseases, on a weekly basis.

The causes of these diseases are very varied and many are due to genetic mutations. Other causes are called autoimmune disorders (the immune system that is supposed to protect the body turns against it), rare infectious causes, and rare cancer forms and.

In some cases, not even the doctors can clearly depict the real causes of these rare diseases.

The research for rare diseases is costly

The medicine has progressed very much in the last decades.

However, the progress of the rare diseases studying is very slow, and that for a very simple reason, namely, the research for rare illnesses is costly.

Testing a new treatment involves two major steps that can take more than a decade.

First, a preclinical trial that involves testing the new therapy on cells in the laboratory should be conducted. Then, there come the trials on lab animals.

Only then, if the lab results are positive, scientists can move on to clinical trials on humans. This final step can cost as much as several million dollars. And there is still a risk – the end-product might not work in humans.

Nowadays, 20% of the people suffering from rare diseases have to wait up to 5 years for the scientists just to give a name for such illnesses. Thus, there is a very small chance for the people suffering from a rare disease to be properly diagnosed and there is almost no chance to obtain a reliable treatment.


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