About our Department
Our research
The Center for Rare diseases is highly active in internationally acknowledged fundamental, translational and clinical research on a broad range of topics. Each center of expertise brings in unique clinical and scientific expertise on a wide range of rare diseases.
Fundamental research
We develop novel tools to allow disease modeling (e.g. organoids, organ-on-a-chip), use –omics approaches to investigate mechanisms of disease and apply advanced molecular biology methods to understand disease processes.
Translational research
Fundamental research findings are progressed into new methods to diagnose or treat diseases. Examples include: metabolomics of novel biomarkers, RNA splicing assays, immunoprofiling for cystic fibrosis and very early Inflammatory Bowel Disease.
Clinical Research
Research involving patients is the basis of our center. Having many different centers of expertise under one roof allows intensive multidisciplinary collaboration, which is essential to progress knowledge on rare diseases. Patients may participate through questionnaires or actively in specific assessments (e.g. MRI imaging of Pompe disease patients diaphragm motility). We facilitate participation in clinical trials.
Centers of expertise
Abdomen, Stomach, Intestine, Pancreas and Esophagus diseaseas
- Erasmus MC Oesophageal and Gastric Cancer center of expertise - Dr. B.P.L. Wijnhoven
- Pediatric Surgical Center for Anatomical Congenital Malformations - Prof. Dr. R.M.H. Wijnen
- Mesenteric Ischemia Center Rotterdam (in association with SFVG) - Prof. dr. M.J. Bruno
- Center of expertise for rare IBD and intractable diarrhea - Prof. Dr. J.C. Escher
Bone disorders
- Erasmus MC Bone Center - Dr. C. Zillikens
Craniofacial anomalies
- Cleft Center of expertise Erasmus MC - Dr. Sarah Versnel
- Dutch Craniofacial Center of expertise - Prof. Dr. I.M.J. Mathijssen
Ear, nose and throat (ENT) disorders
- Expert center for rare head & neck tumors - Dr. Jose Hardillo
- Center of expertise for oligodontia - Prof. Dr. E. Wolvius
- Center of expertise for pediatric laryngotracheal stenosis - Prof. Dr. B. Pullens
- Cleft Center of expertise Erasmus MC - Dr. Sarah Versnel
Endocrine conditions
- Erasmus MC Centre of Expertise for Endocrine Disorders - Prof. Dr. W.W. de Herder
- Expert Center Rare Growth Disorders - Dr. D.C.M. van der Kaay
- Center of expertise for DSD - Prof. E.L.T. van den Akker
- Expert Center Prader Willi syndrome - Prof. Dr. A. Hokken-Koelega
- Expert Center Genetic Obesity (in association with Amsterdam UMC) – Prof. E.L.T. van den Akker
Genetic tumour risk syndromes
- Erasmus MC Academic Breast and Ovarian Cancer Center - Dr. L. Koppert
- Center of expertise for Familian and Hereditary Tumors - Dr. A. Wagner
Hand & upper limp conditions
- Erasmus MC Center of expertise for Congenital Hand and Upper Limb Differences - Dr. C.A. van Nieuwenhoven
Diseases of the heart
- Center of expertise for congenital heart diseases Erasmus MC Rotterdam - Prof. Dr. W.A. Helbing and Prof. Dr. J. Roos-Hesselink
- Center of expertise for inherited cardiovascular diseases - Dr. M. Michels
- Erasmus MC Expert Center Endocarditis - Dr. N.J. Verkaik
Haematological diseases
- Center of expertise for rare mast cell related diseases - Dr. P.L.A. van Daele
- Hematologic malignancies center of expertise - Dr. M.Jongen - Lavrencic
- Sickle Cell and Thalassemia Comprehensive Care Center - Dr. M.H. Cnossen
- Center for Congenital bone marrow failure and leukemia predisposition syndromes (in association with LUMC) - Prof. Dr. M. Raaijmakers
- Expertise Center for Rare Bleeding disorders - Prof. Dr. F.W. Leebeek
Skin disorders
- Center of rare skin diseases - Prof. Dr. Pasmans
- Leprosy Center of Expertise (in association with LUMC) - Drs. C.L.M. van Hees
Immunodeficiency, autoinflammatory and autoimmune diseases
- Centre of expertise for Children with Autoimmune Diseases - Dr. S. Kamphuis
- Center of Expertise for Rare Systemic Immune Disease - Dr. J.A.M. van Laar
- Erasmus MC center of expertise for inflammatory disorders of the central nervous system - M. Titulaer
- Immunodeficiency center of expertise - Dr. V.A.S.H. Dalm
- Centre of expertise for inflammatory myopathies - Dr V.A.S.H. Dalm
- Center of expertise for Ehlers-Danlos syndromes - Dr. S. Demirdas
Cancer
- Erasmus MC Academic Breast and Ovarian Cancer Center - Dr. L. Koppert
- Center of expertise for Familian and Hereditary Tumors - Dr. A. Wagner
- Center of expertise for lung cancer - Dr. J. Aerts
- Brain Tumor Center of expertise - M.J. van den Bent
- Erasmus MC Centre of Expertise for Endocrine Disorders - Prof. Dr. W.W. de Herder
- Expert Center for rare head & neck tumors - Dr. J. Hardillo
- Erasmus MC Oesophageal and Gastric Cancer center of expertise - Dr. B.P.L. Wijnhoven
- Rotterdam Ocular Melanoma Center (ROMC) - E. Kilic
- Hematologic malignancies center of expertise - Dr. M.Jongen-Lavrencic
- Center for Congenital bone marrow failure and leukemia predisposition syndromes (in association with LUMC) - Prof. Dr. M. Raaijmakers
- Soft tissue sarcoma center of expertise - Dr. D.J. Grunhagen
- Center of expertise for rare urinary tract tumors & testicular tumors - Dr. G.R. Dohle
Hepatological diseases
- Erasmus MC Liver Center of expertise - Prof. Dr. J.N.M. Ijzermans
- Center of expertise for pregnancy induced diseases - Dr. W. Visser
Respiratory diseases
- Center of expertise for lung cancer - Dr. J. Aerts
- Academic center of excellence for sarcoidosis - Dr. M. Wijsenbeek
- Academic center of excellence for Interstitial Lung Disease - Dr. M. Wijsenbeek
- Center of expertise for Pulmonary hypertension - Dr. K. Boomars
- Center of expertise for congenital lung malformations - Dr. J. M. Schnater
- Cystic Fibrosis center of expertise Rotterdam - Dr. H.M. Janssens
Neurological and neuromuscular diseases
- Frontotemporal Dementia center of expertise - Prof. Dr. J.C. van Swieten
- Erasmus MC center of expertise for inflammatory disorders of the central nervous system - M. Titulaer
- Neuromuscular Center Erasmus MC - Prof. Dr. P.A. van Doorn
- Expert Center spinal disraphism Rotterdam - Dr. J.K.H. Spoor
- Brain Tumor Center of expertise - M.J. van den Bent
- The ENCORE expertise center for neurodevelopmental disorders - Y. Elgersma
Kidney and urogenital diseases
- Erasmus MC Center of Expertise for Rare Kidney and Urinary Tract Disease - Prof. Dr. E.J. Hoorn
- Center of expertise for DSD - E. van den Akker
- Center of expertise for rare urinary tract tumors & testicular tumors - Dr. G.R. Dohle
Developmental disorders
- The ENCORE expertise center for neurodevelopmental disorders - Y. Elgersma
- Expert Center Prader Willi syndrome - Prof. Dr. A. Hokken-Koelega
Eye diseases
- Center for Genetic Eye Diseases Rotterdam - A. Thiadens
- Center of expertise for Uveitis - Prof. Dr. A. Rothova / J. ten Berge
- Rotterdam Ocular Melanoma Center (ROMC) - E. Kilic
Metabolic disorders
- Center for Lysosomal and Metabolic Diseases - Prof. Dr. A.T. van der Ploeg
- Expertise center Erasmus MC Vascular Genetics - Dr. J.E. Roeters van Lennep
- Neuromuscular Center Erasmus MC - Prof. Dr. P.A. van Doorn
Vascular Diseases
- Center of expertise for inherited cardiovascular diseases - Dr. M. Michels
- Center of rare skin diseases - Prof. Dr. Pasmans
- Mesenteric Ischemia Center Rotterdam (in association with SFVG) - Prof. dr. M.J. Bruno
Pregnancy induced diseases
- Center of expertise for pregnancy induced diseases - Dr. W. Visser
Infectious diseases
- Erasmus MC Institute of Tropical Diseases
Notable results
Drug repurposing
Erasmus MC study shows that existing drug is effective for the treatment of another rare thyroid condition.
The amazing story of discovering a drug (Triac) for the rare thyroid disease Allan-Herndon-Dudley Syndrome and getting it approved. Triac was used 50 years ago for the treatment of another thyroid indication.
ERN Guard-heart
Erasmus MC joins European Reference network (ERN) on rare and complex hereditary cardiac diseases.
The Erasmus MC joins the European Reference network ERN-GUARD, a European network of academic hospitals with proven expertise on rare heart conditions. Expert centers, such as Erasmus MC, are judged not only on clinical expertise but also on scientific excellence.
Role of Junk-DNA explained
Roadmaps into genetics of brain defects.
Researchers at Erasmus MC describe the location and function of enhancers involved in brain development. These enhancers are located in non-coding regions of the DNA, which function remained unknown for a long time. This study shows that defects in 40.000 of the almost 1.6 million enhancers may be involved in development of brain defects. The identification of the brain-disease-related enhancers opens novel opportunities for fundamental research as well as ‘routine’ diagnostics.
3D printed drugs for children
Erasmus MC and TNO pioneer 3D Drug printing.
Oral drugs and children are not always a perfect match. Often the standard dose of a tablet is too high for children and the taste prevents effective drug intake. With 3D printing these challenges may be addressed, as the medication can be ‘printed’ at any dose custom to the child, the taste masked. A nice twist is that it allows printing tablets in children-friendly shapes. The dose can easily be adapted per child or as the child ages. Interestingly, the largest pasta manufacturer in the world, Barilla, is a partner in this project.
