ERN-ITHACA – Düsseldorf Center

Zentrum für Seltene Erkrankungen (ZSE) Düsseldorf
Universitätsklinikum Düsseldorf
Moorenstr.5
40225 DÜSSELDORF
GERMANY

Scope

The area of expertise of the Düsseldorf Centre of the ITHACA European Reference Network (ERN) covers syndromes exhibiting intellectual disability (ID) and/or rare congenital malformations with special interest in different forms of craniofacial malformations. About 1 in 40 newborns have a congenital malformation and up to 2% have or will show ID, caused by different individually rare diseases, among which up to 50% are of genetic or genomic origin. The jurisdiction and scope of expertise of Düsseldorf ITHACA Centre includes:

• over 5500 dysmorphological and multiple congenital anomalies (MCA) syndromes (listed in the London Dysmorphology Database), with monogenic diseases, chromosomal anomalies (detectable through conventional chromosomal analysis and/or CGH-Array technology), multifactorial or sporadic anomalies as well as embryofetopathies of environmental origin
• >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD).

Service to patients

The population of the Rhine-Ruhr metropolitan region which is covered by the Düsseldorf Centre counts more than 11 million inhabitants. The Centre contributes to the care to patients by offering clinical diagnosis, genetic testing, family screening, genetic counseling, neuropsychological and neuropsychiatric evaluation, prenatal diagnosis and follow up.

Organization of the ITHACA ERN – Düsseldorf Centre

The University Hospital of Düsseldorf (UKD), the Heath Care provider (HCP) for the Düsseldorf Centre, is one of the largest hospitals in the Rhine-Ruhr region. UKD is subdivided in 32 departments and 34 institutes, four of which contribute to the Centre: the Institute of Human Genetics, the Department of General Pediatrics, the Department of Pediatric Oncology, Hematology and Immunology and the Department of Gynecology and Obstetrics.

The general expertise of UKD in the field of rare diseases has been recognized at a national level, as the Centre for Rare Diseases Düsseldorf (Zentrum für Seltene Erkrankungen Düsseldorf – ZSED) has been founded in 2014. The ZSED includes 10 centres for specific diseases. Members of the ITHACA ERN-Düsseldorf coordinate four of these centres: congenital pediatric metabolic disorders (Prof. Dr. Ertan Mayatepek), congenital immuno-deficiencies and childhood tumor susceptibility (Prof. Dr. Arndt Borkhardt), craniofacial anomalies (Prof. Dr. Dagmar Wieczorek) and rare genital malformations and tumors (Prof. Dr. Tanja Fehm).

The Düsseldorf Centre offers full coverage of general and specialized cares for children, adults and pregnant women:

• A department of medical genetics offering genetic consultation for children and adults, and pregnant women.
• A department of child neurology and metabolic disorders
• Care to children: UKD offers many facilities in general pediatrics and pediatric medical (cardiology, gastro-enterology, endocrinology, neonatology, pedaudiology, pneumology, hematology, oncology and immunology) and surgical specialties (visceral, cardiac, neurosurgery, urology and orthopedics).
• A Centre for Social Pediatrics (SPZ) offering multidisciplinary diagnosis, evaluation and care including pediatrics, neuropediatrics, psychology, psychotherapy, speech therapy, curative pedagogy, social work, nutrition counseling and neurophysiology.
• Care to adults: UKD is a maximum care hospital including all medical subspecialties.
• Prenatal diagnosis and fetal pathology
• Full technical support, including classic medical laboratories, medical imaging, biological investigations, electrophysiology, genetic and genomic investigations including arrays and NGS.