Otto-von-Guericke University, Med. Faculty – Central German Network for Rare diseases

The University-Hospital and Medical Faculty of the Otto-von-Guericke-University (OvGU) Magdeburg have established in 2014 the Central German Competence Network for rare diseases (MKSE) with a distinctive profile. Based on the established research core areas, neuromuscular and inflammatory diseases, interdisciplinary patient care is established in close collaboration of paediatric and adult medicine together with Human genetics. Patients were offered state of the art diagnosis and treatment of growth disorders (Silver-Russell-S., Noonan-S.), pituitary diseases, disorders of Sexual Development, syndromes of calcium-phosphate metabolism, adrenal and thyroid disorders.

A collaborative approach has been established for differential diagnosis and surgical as well as conservative treatment of Congenital Hyperinsulinism. Our centre hosted a registry for congenital hyperinsulinism (IRB No 110/04) with > 300 patients. Rapid moleculargenetic testing for diagnosis of focal CHI (within one week) and a panel of 11 genes responsible for other types of congenital hyperinsulinism had been established. Both localization diagnosis using 18FFDopa-PET/CT (2004-2016) or 18FFDopa-PET/MRI and surgery are performed within an established collaborative network `COACH´.

Otto-von-Guericke University, Med. Faculty – Central German Network for Rare diseases is participating in the following Main Thematic Groups (MTGs):

• MTG3Genetic Disorders of Glucose & Insulin Homeostasis

General representatives