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.

Living with a rare condition

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.

Data sharing

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, the exchange of clinical information currently takes place via the European Reference Networks.

These, established by European Union, connect specialists across Europe, allowing healthcare professionals to share specialised information and treatments for rare pathologies.

Already, 97 percent of people suffering from these types of conditions are willing for their health data to be shared with the hope it can spur research for new treatments.

"If a patient arrives at a centre which is part of the network, his file will be shared thanks to a tool called the 'Case Patient Management System’. This enables a patient's clinical data to be shared between experts of a rare disease, and allows them to make recommendations," says Hélène Dollfus, Head of the Medical Genetics Department of the Strasbourg University Hospital.

Improving patient care

In Belgium, Ghent University’s Medical Research Centre produces a huge volume of clinical data every day. Researchers say this sharing of high-quality information is vital when it comes to efficient care for patients with rare diseases.

"One of the challenges in Europe is the access to health care for rare diseases. If there are good registries of patients with real diseases, with international data sharing and access to these registries, then this is a unique treasury because we connect with clinical experts and also laboratory experts, also with researchers to come to the best possible healthcare," explains Elfride de Baere, Head of Clinic, Center for Medical Genetics at Ghent University Hospital.

In addition to sharing data, online virtual clinics have made it much easier for experts to share their knowledge with colleagues across Europe.

Bart Leroy, Professor of Ophthalmology at Ghent University says all these advances should lead to progress in treating these rare conditions. 

"The benefits for patients would be that very difficult cases are shared and discussed by international experts from within the EU, and together, we obviously are much more powerful in our knowledge and much more knowledgeable to finally provide better care for the patient."

The European Health Data Space should empower better cross-border access to medical information and research. Not only will that help create a global knowledge network it should also significantly improve care for patients with rare diseases.