ERN-ITHACA –Pécs Center (Hungary)
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 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.
Services to patients
The Service operates to provide clinical and genetic diagnosis to subjects with genetic diseases and to define the reproductive risk of couples from families with genetically determined conditions. The Centre contributes to the care to patients by offering genetic counseling and genetic diagnosis, newborn and pediatric evaluation, neuropsychological and neuropsychiatric evaluation, prenatal diagnosis, follow-up and therapeutic care. Within the genetic counseling different assessments can be provided, including pre- and post-testing, monitoring and follow-up visits and certification release for the National Health System. Recently, the possibility to perform Artificial Reproductive Technologies with Preimplantation Genetic Diagnosis is also considered. Multidisciplinary visits and multiprofessional case discussions are regularly planned in order to provide the patient with the optimal management for his condition. The Service works in close connection with patients associations encouraging meetings with patients and experts, promoting initiatives aimed to improve health conditions and quality of life of affected members, families and caregivers and enhancing preventive, therapeutic and rehabilitative activity. The Center is in tight contact with parents association as AIRETT Onlus, the Association for early onset seizure variants of Rett syndrome due to CDKL5, parents association for congenital Rett syndrome due to FOXG1, European Federation of Rett associations (RSE) and others.
Organization of the ITHACA ERN – Siena
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.
Lead: Dr Kinga HADZSIEV
Department of Medical Genetics
Clinical Center – University of Pécs
Tel: 36 72 536 427