Rare diseases in Europe: does data sharing hold the key to progress?

Rare diseases don’t often get the scientific research funding they need due to the low number of cases. But a new European Health Data Space aims to improve care and treatment for patients suffering from these kinds of pathologies through better information sharing.

French piano teacher Caroline suffers from a rare genetic disease called Stargardt Syndrome. First diagnosed when she was six years old, the condition has progressively led to a loss of vision.

As a classified rare disease, it can be risky for Caroline to travel abroad, where treatment for the disorder can be difficult. 

"One day, I had an allergic reaction to a very strong product and so I went to accident and emergency. Of course, they quickly realised that I couldn't see anything. But it was really complicated to explain everything so that they had all the information,” Caroline told Euronews.

Although specialists at Strasbourg University Hospital have been managing Caroline’s condition, these types of illnesses can be immensely challenging for doctors to diagnose and treat due to the low number of cases.

What actually is a rare disease?

It's a condition that affects less than 1 in 2,000 people.

More than 6,000 different rare pathologies have been identified to date.

72 percent of rare diseases are genetic whilst others are the result of infections - bacterial or viral -, allergies and environmental causes.

70 percent of those genetic rare diseases start in childhood.

Rare diseases currently affect an estimated 30 million people in Europe and 300 million worldwide.

When it comes to treating these types of diseases, sharing knowledge is key. For that, the new European Health Data Space, launched in May 2022, aims to do just that. 

In the case of rare pathologies,