ERN-ITHACA – Pècs Center

Department of Medical Genetics
Clinical Center – University of Pécs
Szigeti 12
H-7624 PECS
HUNGARY

Plomb

Champ d'application

Notre domaine d'expertise, en tant que centre du Réseau européen de référence (ERN) ITHACA, couvre tous les syndromes se caractérisant par des anomalies du développement et/ou une déficience intellectuelle (DI). Environ 1 nouveau-né sur 40 présente une malformation congénitale (261 pour 10 000 fœtus et nouveau-nés selon les rapports EuroCAt), et 1 sur 40 est atteint de déficience intellectuelle. Par conséquent, 3 à 5 % de toutes les naissances humaines présentent ou développeront une anomalie du développement, parmi lesquelles au moins 25 à 50 % sont d’origine génétique ou génomique. Cette population considérable représente en réalité la juxtaposition d’un très grand nombre de troubles individuellement rares présentant une extrême diversité de causes et de phénotypes. Le champ d’action et le périmètre d’expertise de ce centre ITHACA comprennent :

• plus de 5 500 syndromes dysmorphiques et anomalies congénitales multiples (MCA) (répertoriés dans la base de données de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monogéniques, toutes les anomalies chromosomiques (dont la plupart ne sont détectables que grâce aux technologies de puces à ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryofétopathies d’origine environnementale
• >1 500 formes monogéniques et des centaines de formes chromosomiques de déficience intellectuelle, associées ou non à un trouble du spectre autistique (TSA).

Service aux patients

The scope of our patient care activities includes the recognition of both the discrepancies leading to abnormalities of the genome and the developing pathological processes, as well as the early identification of individuals and families at risk, and upon the identification of the genetic defect the preventive care of the affected family members, prevention of mental and physical retardation of those born with genetic disorders in addition to the rehabilitation of such patients.

Organisation du Centre

The University of Pécs was founded by King Louis the Great in 1367, as the first university in Hungary. Today, this University is one of the largest institutions of higher education in Hungary with the widest spectrum of teaching and research activities. The Clinical Center of the University is a regional center for a population around1 million inhabitants, but – as one of the four Rare Disease Expert Center in Hungary since the ministerial appointment in June 2015 – for several diseases, including groups of rare and undiagnosed diseases its coverage is nationwide. The departments of the Clinical Center are traditionally involved in the diagnosis, prenatal diagnosis, follow up, rehabilitation and treatment (if available) of the developmental anomalies and/or intellectual disability. The individual departments form a Rare Disease Center, which is a local umbrella network, with strong national and international affiliations (affiliate partner in Neuromics, member of UDNI – Undiagnosed Disease Network International). The coordinator of the Rare Disease Center is the Department of Medical Genetics, which is a diagnostic, treatment and research facility specialized in hereditary and acquired disorders of the human genome.

The Health Care Provider (HCP) is the Clinical Center of the University of Pécs with 21 departments and 8 institutions, these count over 1200 adult and 180 pediatric beds and around 1.7 million outpatient care. There are 1700 births/year on the Department of Obstetrics and Gynecology. With the multidisciplinary and the wide range of expertise provide by the Clinical Center the HCP is involved in all field of the rare diseases management. Regrading to scope the ERN-ITHACA the following departments have outstanding role:

• 2 departments of medical genetics offering genetic counselling for children and adults and pregnant women with prenatal diagnostic unit.

• 1 department of child neurology with experience in the management of different childhood epilepsy syndromes.

• 1 department of child psychiatry offering care for ASD and ID patients (including inpatient unit)

• 1 department of General Pediatric: endocrinology, cardiology, nephrology, gastroenterology, oncology and with surgical unit with specialized skills in orofacial and urogenital malformations and newborn surgery. 1 NICU with 20 beds.

Different specialized departments in adult care, including neurology, and the interventional services include neurosurgery as well and a brand new rehabilitation center with a wide spectrum of available treatment options.

Full technical support, including classic medical laboratories, medical imaging (T3 MRI), and electrophysiology, genetic and genomic investigations including array, NGS and mass spect facility.