Rare disease are defined based on a prevalence of <1/2000. Together, there are more than 6,000 rare conditions affecting more than 500.000 Belgians. Up to 80% of these conditions have a genetic basis.

The diagnostic process for patients with rare conditions is often complicated: a diagnostic odyssey that takes approximately 5 years on average. Furthermore, in the initial stages of the disease, an incorrect diagnosis is often made, which in turn leads to inappropriate and sometimes even harmful treatment.

Given the genetic etiology, establisching the diagnosis usually requires identifying the causal genetic defect. In the current project, we want to contribute to a significant reduction in the diagnostic delay for patients affected by rare disorders by offering advanced molecular biological research techniques in an early stage.