ERN-ITHACA – Aarhus Center

Aarhus University Hospital
Palle Juul-Jensens Blvd. 161
8200 Aarhus
DANIMARCA

Piombo

Ambito di applicazione

L’area di competenza del nostro Centro, in qualità di membro della Rete di Riferimento Europea (ERN) ITHACA, comprende le sindromi caratterizzate da disabilità intellettiva (DI) e/o malformazioni congenite rare, con particolare attenzione alle diverse forme di malformazioni craniofacciali. Circa 1 neonato su 40 presenta una malformazione congenita e fino a 2% presentano o presenteranno una DI, causata da diverse malattie rare a livello individuale, tra cui fino a 50% sono di origine genetica o genomica. La competenza e l’ambito di specializzazione del Centro di Düsseldorf ITHACA comprendono:

• oltre 5.500 sindromi dismorfologiche e di anomalie congenite multiple (MCA) (elencate nel London Dysmorphology Database), tra cui malattie monogeniche, anomalie cromosomiche (rilevabili tramite analisi cromosomica convenzionale e/o tecnologia CGH-Array), anomalie multifattoriali o sporadiche, nonché embriopatie di origine ambientale
• >1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato.

Assistenza ai pazienti

The Department of Clinical Genetics at Aarhus University Hospital (AUH) works at two levels: we have a group of specialists in our unit and a close collaboration with the Center for Rare Diseases including a wide network within the whole AUH and even beyond.

Department of Clinical Genetics offers – beside extensive genetic testing options – consultations for children and adults including diagnostic consultations, carrier screening, genetic counselling, prenatal testing and pre-implantation testing. Currently, there are six clinical geneticist’s senior consultants and 5 additional specialists, five residents in genetics, and four nurses working at the department. The department harbors specialist teams for rare disorders, prenatal, neurology, oncology, sex chromosome aberrations, kidney and skin diseases and rare liver disorders.

The existing and consolidated multidisciplinary network at AUH aim for diagnostics according to highest international standards, and further strive continuously for patient centered care and optimal coordination. We also aim for a multidisciplinary approach when seeing patients in the outpatient clinic. This includes regularly multidisciplinary clinics that comprise a consultation with the continuous responsible health care professional (primarily the team’s geneticist or paediatrician at Centre for Rare Diseases, the team’s nurse and other participants (eyedoctors, surgeons etc. from the team as needed based on an individual approach). Additionally, monthly multidisciplinary meeting/conference with participation of above and other relevant specialties: discussion of diagnosis and treatment, discussion and planning of collaborative research, and establishments of common guidelines. The team is involved in multidisciplinary diagnosis and treatment of infants, children, adolescents as well as adults.

Organizzazione del centro

Aarhus University Hospital belongs to the elite of university hospitals, and aims to be the best choice for patients and professionals. Aarhus University Hospital serves both citizens in the local area and patients in need of highly specialised treatment.

Aarhus University Hospital has approx. 10.000 staff members, 850 beds and 43 clinical departments. Yearly approx. 900.000 outpatient visits, 85.000 admissions, 80.000 surgeries and 5000 births.

Aarhus University Hospital develops and provides highly specialised treatment, research and education at international level.