ERN-ITHACA – Tübingen Center

Institut für Medizinische Genetik und angewandte Genomik
Calwerstr. 7
72076 TÜBINGEN
GERMANY

Lead

Scope

The area of expertise of the Tübingen Centre of the ITHACA European Reference Network (ERN) covers mainly genetic syndromes exhibiting developmental anomalies and/or intellectual disability (ID) or neurodegenerative disorders. These patients are cared for by the multidisciplinary team of the Centre for Rare Diseases (CRD). CRD undertakes both clinical and genetic diagnosis as well as therapy of these patients. We have multidisciplinary teams e.g. for patients with fragile X syndrome, syndromes with skeletal features (i.e. cleft lip and palate, growth abnormalities) or with heart involvement. Our center has a special focus in bridging transition of childhood care into care of adults and pursuing a family oriented medical care approach.

Service to patients

The regional population covered by the Tübingen Centre is south-west Germany. A significant number of consultations come from other parts of the country, European countries or from overseas. Besides conventional or surgical therapeutic approaches and clinical or genetic testing we offer integrated care involving non-medical specialties such as psychology, social worker and interacting with lay group representatives.

Organization of the ITHACA ERN – Tübingen Centre

The University Hospital Tübingen (UKT) covers all clinical specialties. Main contributors to the Centre are the University Children’s Hospital – Department of Pediatric Neurology, the Institute of Medical Genetics and Applied Genomics and the Centre for Rare Diseases (for details see http://www.medizin.uni-tuebingen.de/en/Homepage.html). Our special expertise is on ultra-rare diseases, disease gene identification, neurometabolic and neurodegenerative diseases, and surveillance of cerebral palsy including systematic description of rare brain malformations and maldevelopments with in depth phenotyping and neuroimaging.

Within the Centre we offer diagnosis and treatment

• for children with congenital malformations at facilities in general pediatrics (cardiology, nephrology, endocrinology, neonatology…) and pediatric surgery (visceral, cardiac, neurosurgery, orthopedics,…)
• for children with developmental delay or metabolic disease at the Department of Pediatric Neurology
• for children with developmental delay, autism or ASD at the Department for Pediatric and Juvenile Psychiatry
• for newborns with congenital malformation incl. cleft lip and palate / Pierre-Robin sequence at the Department of Neonatology and the Centre of Dentistry, Oral Medicine and Maxillofacial Surgery
• for families with genetic diseases at the Institute of Medical Genetics and Applied Genomics for genetic consultation for children and adults, as well as cytogenetic, molecularcytogenetic and molecular diagnosis including clinical exome sequencing
• for pregnant women with unclear clinical manifestation of the fetus with complex malformations applying molecularcytogenetic analysis and clinical exome sequencing

Comprehensive clinical care is guaranteed due to

• multidisciplinary team meetings of geneticists / radiologists / neuropediatricians / neurologists and childhood psychiatry experts for discussion of single patients with unsolved or unusual manifestation e.g. in the field of neurodegenerative, neurometabolic and syndromal disorders
• interdisciplinary meetings for patients with rare clefting syndromes (special rare disease subcenter)
• interdisciplinary fetal pathology boards
• general patient registry for rare diseases for all of our integrated rare disease subspecialties serving as quality control due to monitoring the numbers of patients, and
• the possibility of patient participation in a wide range of research studies