ERN-ITHACA – Centro de Odense

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

Plomo

Ámbito de aplicación

El ámbito de especialización de nuestro centro, como miembro de la Red Europea de Referencia (ERN) ITHACA, abarca todos los síndromes que presentan anomalías del desarrollo y/o discapacidad intelectual (DI). Aproximadamente 1 de cada 40 recién nacidos presenta una malformación congénita (261 de cada 10 000 fetos y recién nacidos, según los informes de EuroCAt), y 1 de cada 40 presenta DI. Por lo tanto, entre 3 y 5 % de todos los nacimientos humanos presentan o desarrollarán una anomalía del desarrollo, de las cuales al menos entre 25 y 50 % son de origen genético o genómico. Esta enorme población representa, en realidad, la yuxtaposición de un número muy elevado de trastornos raros a nivel individual que presentan una diversidad extrema de causas y fenotipos. La competencia y el ámbito de especialización de este centro ITHACA incluyen:

• más de 5.500 síndromes dismórficos y de anomalías congénitas múltiples (MCA) (recogidos en la Base de Datos de Dismorfología de Londres), entre los que se incluyen más de 3.000 enfermedades monogénicas, todas las anomalías cromosómicas (la mayoría de ellas solo detectables mediante tecnologías de microarrays), anomalías dismórficas multifactoriales y esporádicas, y embriopatías de origen ambiental
• >1.500 formas monogénicas y cientos de formas cromosómicas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado

Atención a los pacientes

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.

Organización del centro

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.