Rare disease day: the recognized expertise centers in LUMC

There are an estimated 8,000 rare diseases. A condition is considered rare when less than 1 in 2,000 people in the Netherlands suffer from the condition. Although rare in themselves, more than one million children and adults in the Netherlands (6 to 8 percent of the population) have a rare disease.

Rare diseases are difficult to recognize while they are often life-threatening, chronic and/or disabling. More than 50 percent of patients with a rare disease are initially misdiagnosed. Care for these patients is highly complex and highly specialized.

Expertise Centers for rare disorders

The Expertise centers in the Netherlands are the place for patients with a rare disease. LUMC has 32 recognized expertise centers. The key word for our expertise centers is cooperation. Cooperation between different types of specialties within the LUMC, and also cooperation on a national and European level. This cooperation is necessary because there are often too few patients within a country. An important task of an expertise center is therefore to combine and increase knowledge and expertise through scientific research. Scientific research gives us insights into the disease itself, the quality of care and possible new treatments.   

European Reference Networks (ERN)

European Reference Networks (ERNs) are virtual advisory networks linking European centers of expertise. Both researchers, medical experts and patients are connected to the ERNs with the aim of improving access to diagnosis and treatment for rare diseases within Europe. To this end, the ERNs share their expertise, resources and knowledge. The LUMC participates in 15 ERNs. This video explains what ERNs do.

Grants for European cooperation

The LUMC is committed to further expanding European cooperation and recently received a €908,000 grant from the European Rare Disease Research Alliance (ERDERA) for this purpose. The EDERA is a European collaboration with the goal of supporting and improving research and innovations on rare diseases in Europe.

In addition, LUMC received a €571,000 grant from the Joint Action on Integration of ERNs into National Healthcare Systems (JARDIN). The goal of JARDIN is to increase access to care for rare diseases in ERN networks within Europe.