Center of Rare Diseases


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„The University Hospital Bonn and the faculty of medicine of the University Bonn offer a high quality treatment for patients with rare diseases. The “center for rare diseases” is an interdisciplinary cooperation between many institutions of the University Hospital of Bonn. Our center was created for research, teaching and especially for the care of patients with rare diseases. The center for rare dieseases is a point of contact for patients, physicians and scientists.“


Main Focus:

Rare Neurological Movement Disorders, Muscle Diseases and Epilepsies
Amyothrophic lateral sclerosis (ALS); ataxias; dystonias; hereditary spastic paraparesis (HSP); mitochondrial diseases; neuromuscular diseases; rare geneic epilepsies;
(as well as SCN1A mutations, Lgi1-mutations); limbic encephalitis

Center for Rare Diseases of the Coagulation System
Haemophilia A and B; diseases of vitamin A-metabolism; FXIII-deficit; deficit of factors I, II, V, VII, X and XI

Center for Hereditary Cancers of the Gastrointestinal Tract
Hereditary colorectal cancer without polyposis; polyposis syndromes; hereditary stomach cancer

Center for Histiocytosis
Langerhans-histiocytosis

Center for Rare Eye Diseases
Pseudoxanthoma elasticum (PXE); hereditary retinal degenerations (for example Best’s disease; Stargardt’s disease; retinitis pigmentosa (for example Refsum syndrom, Usher syndrom); macular telangiectasia

Center for Congential and Perinatal Viral Infection
Chromosomally integrated human herpes 6; connatal cytomegalovirus; connatal parvovirus infections; perinatal parecho- and enterovirus infections

Center for Congential Intestinal Atresia
Esophageal atresia; duodenal atresia; small intestine atresia

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Univ. Prof. Dr. Thomas Klockgether
Medical Director of the Center of Rare Diseases
Center of Rare Diseases
University Hospital Bonn
Sigmund-Freud-Str. 25
53127 Bonn
Germany
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