The Essen Center for Rare Diseases (EZSE) is an interdisciplinary center at University Hospital Essen, bringing together experienced specialists from more than 30 university hospital departments and institutions, in partnership with the University of Duisburg-Essen. Its work focuses on coordinated, patient-centered care for children and adults with rare diseases, including support for people seeking a diagnosis and those already diagnosed. The center offers guidance and case assessment, interdisciplinary case conferences, patient navigation, and collaboration with treating doctors, patient organizations, and experts across Germany.

A particular focus is genetic disease. As a provider in the statutory genomic sequencing model under Section 64e of Germany’s Social Code V, the EZSE can offer comprehensive interdisciplinary genetic diagnostics to patients suspected of having a rare genetic condition. The center also supports referrals and cooperation among healthcare professionals and provides information for patients and clinicians.

Research, teaching, and the development of diagnostics and therapies are central to its work. The EZSE is connected to 36 clinics, institutes, and departments and 14 integrated specialist centers