ERN-ITHACA – Odense Center

Odense University Hospital
J. B. Winsløws Vej 4,
5000 Odense
DENMARK

Lead

Scope

The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and/or intellectual disability (ID). About 1/40 newborn has a congenital malformation (261/10000 fetuses and newborn following EuroCAt reports), and 1/40 has ID. Therefore, 3 to 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. The jurisdiction and scope of expertise of this ITHACA Centre includes:

• over 5500 dysmorphic and multiple congenital anomalie (MCA) syndromes (listed in the London Dysmorphology Database), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin
• >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)

Service to patients

Odense University Hospital (OUH) is the largest and most specialised hospital in the Region of Southern Denmark (RSD) and it is one of the largest education and training centers in the region, closely collaborating with the University of Southern Denmark (SDU). Many of the experts at our Center are also appointed at SDU. The hospital has extensive state-of-the-art facilities and all medical specialities are present at the hospital. Patient care is focused on improved patient involvement and individualized treatment.

The hospital has established a Center for Rare and Complex Diseases (CAKS). It is organized as a network of multidisciplinary teams led by a steering comity. The main purpose is to coordinate and adjust surveillance programs for patients with rare diseases. All specialties have a ‘rare disease co-ordinator’ appointed responsible for assignment of members for each disease specific multidisciplinary team (MDT). Each MDT is responsible for patient care and local guidelines for the particular relevant rare disease.

The H. C. Andersen Children’s Hospital at OUH is the primary paediatric department for patients from Funen. Approved by the national health authorities, the department has regional and highly specialized functions for the entire RSD (1,27 million inhabitants) in paediatric areas such as gastroenterology, neonatology, endocrinology, nephrology, neurology, cardiology, and social paediatrics. OUH has all specialists required in care for children with rare diseases including cross-disciplinary teams of physicians, nurses, psychologists, social advisors, physiotherapists, occupational therapists, dieticians and others depending on the nature of the tasks (i.e. radiologists and neuroradiologists, pathologists, psychiatrists). There is a close collaboration with the experts at the Department of Clinical Genetics in diagnostics, genetic counselling, and follow up on the patients.

Department of Clinical Genetic provide genetic counselling and has regional function for the area of Funen, highly specialized functions for RSD and for some rare diseases, nationally. The CAKS initiative is hosted by the department. The laboratory is ISO 15 189 accredited and performs pre- and postnatal exome/genome sequencing as well as a large number of other molecular and cytogenetic analysis. The department has a wide research interest in rare diseases and host a core research facility center, Clinical Genome Center.

Organisation of the center

OUH offers patients with rare diseases clinical evaluation and diagnostic consultations, genetic counselling, genetic testing, familial screening, prenatal diagnosis, patient treatment, follow up and coordination of the medical care as well as education of patients in their own rare disease.

We focus on patient involvement and individualized treatment and have three closely coordinated services to attend patients with rare and genetic disorders: The Center for Rare and Complex Diseases, the H.C. Andersen’s Children’s Hospital, and the Department of Clinical Genetic. Together we put our effort into state-of the-art diagnosis, management and treatment of rare diseases trough close collaboration facilitated by having the centers and all specializations at the same location.

Our mission is to put the patient first and for patient with rare disease this means that we strive to design and deliver care based on the needs and choices of each patient.