WebsEdge/Health

The department of Clinical Genetics of the Erasmus MC University Medical Center Rotterdam has a long-standing history of being at the front row of the clinical genetics community This was achieved by integrating clinical care, laboratory diagnostics, and innovative research. This cross pollination resulted in a tremendous benefit for our patients. For instance It resulted in the identification of the gene for Fragile X and the genes for Tuberose Scleroses and in the enzyme replacement therapy for patients with Pompe Disease. Staff work In Multidisciplinary Expertise Groups (MEG) where medical doctors, laboratory specialists, and researchers meet and discuss the diagnostic outcomes and the research results of the patients. In particular the combination of clinical, diagnostic lab outcomes and research results leads a to cross pollination which makes us go the extra mile in most cases. This has resulted in a number of great research successes, from a new form of therapy for neurological diseases based on a gene discovery to understanding better the decision making process of expectant mothers seeking genetic testing through the National study on the introduction of non-invasive prenatal screening (NIPT).