Expertise Center for Rare Disorders (ECZA)

Patients with a rare disorder can come to the LUMC for specialized care. A disorder is considered rare if fewer than 1 in 2,000 people in the Netherlands suffer from the disorder. To show just where patients with a rare disorder can be admitted, the VWS has designated expertise centers. These expertise centers must comply with strict conditions as they work together in a European context to improve knowledge sharing among nations.

National Expertise Centers for Rare Disorders

The LUMC has 37 Centers for Rare Diseases which are recognized by the Ministry of Health, Welfare and Sport. The continuity is one of the key components for examination in the recognition of a  a Center for Rare Diseases. But another component, for example, involves whether a certain care path is available and how the quality of care is measured and improved. An important task of an expertise center is that knowledge and skills are bundled and expanded, including through scientific research.

The allocation of centers of excellence for rare diseases is a major step towards better and integrated care, treatment, and quality of life for patients with rare diseases, which affect a total of 6 to 8% of the population.

Below you will find a list with more information about the 37 expertise centers for rare disorders in the LUMC.

Expertise Center for Congenital Abnormalities and Intellectual Disabilities
Expertise Centers for Rare Congenital Immunodeficiencies and Stem Cell Transplantation
Expertise Centers for Rare Autonomic Disorders
Expertise Center for Rare Cardiomyopathy
Expertise Center for Congenital Heart Disorders
Expertise Center for Rare Bone Marrow Deficiencies
Center for Congenital Bone Marrow Deficiencies and Genetic Predisposition for Acute Leukemia
Expertise Center for Bone and Soft Tissue Tumors
Expertise Center for Cutaneous Lymphoma
Expertise Center for Endocrine Disorders and Bone Disorders
Expertise Center for Rare Hereditary Colon Tumors
Expertise Center for Hereditary Cerebral Vascular Diseases
Expertise Centers for Hereditary Eye Diseases and Central Serous Chorioretinopathy
Expertise Center for Familial and Hereditary Breast Cancer
Expertise Center for Familial Skin Melanoma
Expertise Center Rare Genetic Neurodegenerative Disorders
Expertise Center for Hematopoietic Stem Cell Transplantation and T-cell Immunotherapy
Expertise Center for Haemophilia and Related Disorders
Expertise Center for Rare Hemoglobinopathy
Expertise Center for Brain Tumors
Expertise Center for Rare Head Pain and Headache
Working Group for Head and Neck Oncology University Cancer Center
Expertise Center for Immune Mediated Cytopenias
Expertise Center for Import and Travel-related Illnesses
Leprosy Expertise Center
Expertise Center for Lupus, Vasculitis and Complement-associated Systemic Disorders
Expertise Center for Rare Liver Diseases
Expertise Center for Marfan Syndrome and Related Hereditary Aorta Problems
Multidisciplinary Management of Autoimmune Disorders
Expertise Center for Rare Neuromuscular Disorders
Expertise Center for Rare Kidney Diseases
Expertise Center for Rare Eye Tumors
Expertise Center for Rare Ear Disorders
Expertise Center for Rare Prenatal and Congenital Infections
Expertise Center for Polyomavirus-associated Skin Infections and Tumors
Expertise Center for Rare Sleeping Disorders / Narcolepsy
Expertise Center for Vestibular Schwannoma and NF2
Expertise Center for Rare Pregnancy-related Disorders

Information about European Reference Networks (ERNs)

Nationally recognized Centers of Rare Diseases collaborate on a European level in so called European Reference Networks (ERNs). ERNs are virtual networks and aim to tackle complex or rare diseases that require highly specialized treatments and a pooling of knowledge and resources. View all ERNs below.

European Reference Networks (ERNs)

The LUMC participates in various European Reference Networks (ERNs). In these reference networks, nationally recognized centers of rare diseases work together on rare diseases or conditions that require highly specialized treatments and a pooling of knowledge and resources. To discuss a patient's diagnosis and treatment, ERN coordinators convene a "virtual" advisory board of medical specialists from various disciplines. This way, knowledge from several centers of expertise is combined for the benefit of the patient.

The LUMC participates in various European Reference Networks (ERNs). In these reference networks, nationally recognized centers of rare diseases work together on rare diseases or conditions that require highly specialized treatments and a pooling of knowledge and resources. To discuss a patient's diagnosis and treatment, ERN coordinators convene a "virtual" advisory board of medical specialists from various disciplines. This way, knowledge from several centers of expertise is combined for the benefit of the patient.

LUMC participates in 15 European reference networks

The LUMC is the coordinator of the ERN affiliated registries Endo-ERN and ERN-BOND. The LUMC is also a participating expertise center in another 14 networks.

International Rare Diseases Research Consortium (IRDiRC)

IRDiRC (International Rare Diseases Research Consortium) is a consortium with more than 40 member organizations from all over the world. IRDiRC’s vision is that all people with a rare disease should receive a correct diagnosis and treatment within one year after visiting a doctor for medical complaints. Prof. Aartsma-Rus, professor of translational genetics at the LUMC, is a member of the IRDiRC Therapies Scientific Committee.