University Medical Center Magdeburg
Institute of Human Genetics and
Central German Network for Rare Diseases
(Mitteldeutsches Kompetenznetz Seltene Erkrankungen, MKSE)
Lead
Prof. Dr. med. Martin Zenker
Telephone: +49 391 6715062
Fax: +49 391 6715066
Email: martin.zenker@med.ovgu.de
Scope
The area of expertise of Magdeburg Centre, as member of the ITHACA European Reference Network (ERN), generally covers all syndromes exhibiting developmental anomalies and/or intellectual disability (ID). 3-5% of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes, including over 5500 dysmorphic and multiple congenital anomalie (MCA) syndromes and over 1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD). A specific focus of expertise and patient care of the Magdeburg Centre is regarding RASopathies.
Service to patients
The Magdeburg Centre covers the German federal state of Saxony-Anhalt and neighboring regions but also on a supra-regional basis serves patients affected by rare diseases out of its particular field of expertise.
Multidisciplinary teams of the Central German Network for Rare Diseases (MKSE) provide clinical and genetic diagnostics, counseling and therapy. Specific teams exist e.g. for Noonan syndrome, neurofibromatosis, and disorders accompanied by disturbed growth and skeletal anomalies. The Centre closely collaborates with various Patient Advocacy Organisations.
Organisation of the center
The University Hospital Magdeburg (UMMD) covers all clinical specialties. Its activities within ERN-ITHACA are led and coordinated by the Institute of Human Genetics (Director and HCP Representative Martin Zenker) in close cooperation with the University Children’s Hospital, the Department of Neurology and the Central German Network for Rare Diseases (MKSE). External collaborating partners include regional social-paediatric centres (SPZ) as well as medical centres for adults with disabilities (MZEB).
The Centre is particularly dedicated at to diagnosis and treatment for children with congenital malformations, developmental delay / intellectual disability, endocrine or metabolic diseases, and autism.
Medical geneticists and paediatric specialists represent the core of the multidisciplinary team. They provide joint outpatient clinics for children with developmental disorders to establish a precise diagnosis and for appropriate counseling of families. Genetic diagnosis and counseling is offered by the Institute of Human Genetics. Additional specialists from other disciplines join the multidisciplinary team as appropriate.