The greatest barrier to the prevention, diagnosis and treatment of rare diseases is insufficient knowledge, including information about the natural history of rare diseases.
In the past, a lack of rare disease research has delayed the establishment of the fundamental scientific knowledge needed to understand the causes and mechanisms for most rare diseases.
This has resulted in under-diagnosis, misdiagnosis, delays in diagnosis and inappropriate treatment. The key to developing this knowledge is supporting and encouraging all elements of rare disease research.
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Research has increased over the last two decades. However, there is a lack of research to cover every one of over 6000 identified rare diseases.
Research on rare diseases cannot be carried out in isolation. Pooling of scarce resources is essential, not only to avoid duplications but also to optimise the use of funding, infrastructures and technological platforms.
We need to link up infrastructures that perform rare disease research. There is a need for a framework to enable efficient and ethical data sharing on a large scale.
In addition, there needs to be an organic connection between data coming from healthcare and data from research to achieve a higher degree of integration. The recently established European reference networks (ERNs) can play a pivotal role in enhancing research capabilities.
Through our work, we advocate for more funding for research at European, national and international levels.
We are involved in specific research projects that structure the research environment, acting as a broker between disease-specific patient organisations and national funders, provide capacity-building trainings for patients so they can be involved and bring the patient voice to research projects and infrastructures.
We need earlier patient access to promising, innovative drugs without compromising patient safety. We need to move from the proof of concept to the first clinical trial more quickly and without compromising patient safety.
We need more translational research to ensure basic research is translated into medicines for patients. Early access cannot be achieved without the continuous evidence generation.
The rare disease community, including all rare disease patient organisations and their partners, can be deservedly proud of its achievements over the last 20 years.
We now look to the future with great energy and drive. Building on our collective expertise from experience and shared values, together we will continue to tackle the new challenges that lie ahead.