The EU Isn’t Forgetting the Rare Disease Community


Even though the diseases that Patient Worthy covers are considered “rare,” collectively, the rare disease community affects millions and millions of people worldwide. Despite this, there is a huge socioeconomic burden of rare diseases and many barriers against developing new therapies.

Developing therapies for even common diseases requires a huge time and monetary investment, but since there are only a few patients that will benefit from rare disease treatment, pharmaceutical companies may not be able to cover the drug’s cost, much less, make a profit.  Furthermore, it is difficult to find enough patients to participate in clinical trials, and for genetic childhood diseases, even more difficult to perform trials with young subjects. For these reasons, from the start, pharmaceutical companies have very little interest in researching and developing treatments.

However, a new approach across the European Nations could help patients secure access to new treatments. 24 European Reference Networks (ERNs) have been launched this year, created through a collaboration between EU countries and the European Commission.

These ERNs are virtual networks of healthcare providers across Europe and would help improve both the speed and the accuracy of diagnoses, marry the management of patients in the EU, and support the healthcare community in sharing data and information.

All of these initiatives would not only improve overall healthcare, but also lower costs of high-quality rare disease care and have significant potential on research.

For example, an ERN could help create and expand a patient registry for a rare disease, which would in turn help experts access disease information and contacts for clinical trials.

Another opportunity that ERNs bring to the rare disease dinner table is international specialists.  Thus, a rare disease patient could have access to one of their only specialists in the world, even if he/she is based in another country, and further, he/she wouldn’t need to travel to that country unless absolutely necessary.  Highly specialized treatment and concentrated medical knowledge is now more accessible than ever before.

Needless to say, this latest technological initiative will help alleviate some of the major problems facing the rare disease community, contributing to better diagnoses, hopefully better treatments, and definitely, better quality of life for rare patients, who, while perhaps few and far between, are more common than we think.


This information was provided from a Horizon interview with Dr. Daria Julkowska, a coordinator of another EU-funded rare disease project. To see the full transcript of the interview, click here.




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