ERN-ITHACA – Gdansk Center

University Clinical Center, Gdansk, Poland
Rare Disease Centre with Department of Pediatrics, Hematology and Oncology and Genetic Clinic
Ul Dębinki 7
80-952 Gdańsk,
POLAND

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

The aim of the Rare Disease Center (RDC) is to provide coordinated multidisciplinary medical care for people with rare diseases, taking into account the individual needs of the patient and his family. The Center takes care of selected rare diseases in children via hospital admissions and outpatients care. During short visits we provide multidisciplinary care according to specific dedicated guidelines, to improve patients quality of life and treatment if possible.

We are currently implementing pilot procedures of transition of care from childhood to adulthood.

RDS as a part of highly specialized hospital is able to provide care of neurologists, endocrinologists, surgeons, cardiologists, ophthalmologists, ENT specialists, nephrologists. RDS team includes 5 clinical geneticists and 4 trainees involved in genetic consultations for children and their families. All of the patients are supported with necessary written information regarding specific condition plus additional info about patient organizations and clinical trials available. We stay in contact with majority of Polish patient organizations, organizing common conferences and workshops.

There are 4 pediatric departments that are members of the ERNs (ERNICA, PaedCan, ERKnet, E-urogen). Moreover, there are specialists of physiotherapy, occupational therapy, psychologists, speech and language therapists, social workers etc.

Majority of UCC specialists are at the same time Medical University of Gdansk academic teachers and researchers.

 Well-equipped imaging and laboratory base for children make it possible to perform the diagnostic and consultation procedures necessary for a given disease entity and to determine further procedures, including rehabilitation and psychological care. The Center provides care to selected units among rare diseases in which it has special skills resulting from the acquired knowledge and clinical experience, cooperation with patient organizations, and participation in research projects and conferences.

Individual clinics take part in clinical trials and implement unique therapies. As one of the first centers in the country, RDS also offers targeted patient care at home, based on the possibilities of the digital platform and telemedicine. UCC also provides extensive education to families and people involved in the care of a patient with a rare disease.

Organization of the center

The University Medical Center of Gdansk is one of the largest hospitals in Poland and   has more than 1100 beds available,  4600  employees, 128 000 admissions/year ( 22000 children hospitalizations ) and about 350000 consultations in open departments( 50000 childrens consultations)  and 75 years of tradition. UCC of Gdansk offers  comprehensive care in all fields of medicine, including highly specialised procedures. UCC  is resourced accordingly, with adequate numbers of operating theatres, intensive care units, isolation rooms, as well as the huge  number of highly subspecialized experts. Services are provided for approximately 3  million of inhabitants.

LGK (Laboratory of Clinical Genetics), our accredited and internationally certified hospital district-owned laboratory, performs all necessary cytogenetic and a number of molecular tests including aCGH and selected NGS gene panels.

The  Medical Imaging Center is the one of largest medical imaging center in Poland  and its services are fully accredited. Its services (e.g. x-ray, scanning, ultrasound, CT, MRI, isotope scanning, PET-CT) cover the needs of all specialties, thus also ours, and those we may need to consult.