Tartu University Hospital
L. Puusepa 1a
Tartu 50406
ESTONIA
Piombo
Ambito di applicazione
L’area di competenza del nostro Centro, in qualità di membro della Rete di Riferimento Europea (ERN) ITHACA, copre tutte le sindromi caratterizzate da anomalie dello sviluppo e/o disabilità intellettiva (DI). Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i dati EuroCAt) e 1 su 40 presenta una disabilità intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un’anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realtà la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un’estrema diversità di cause e fenotipi. La competenza e l’ambito di specializzazione di questo Centro ITHACA comprendono:
- oltre 5.500 sindromi dismorfiche e di anomalie congenite multiple (MCA) (elencate nel London Dysmorphology Database), tra cui oltre 3.000 malattie monogeniche, tutte le anomalie cromosomiche (la maggior parte delle quali rilevabili solo tramite tecnologie di array), anomalie dismorfologiche multifattoriali e sporadiche ed embriopatie di origine ambientale
- >1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato
Assistenza ai pazienti
Genetics and Personalized Medicine Clinic of Tartu University Hospital includes three departments: the Department of Clinical Genetics, the Department of Laboratory Genetics, and the Department of Personalized Medicine. Department of Clinical Genetics offers consultations for children and adults, including diagnostic and follow-up consultations, carrier screening, genetic counseling, and prenatal testing. There are eleven clinical geneticists, six residents in clinical genetics, a nutritional therapist, social work coordinator, and five nurses working in the department.
Patients’ multidisciplinary and interdisciplinary medical care is carried out through consultations with other specialists. In 2021 a new center for Orphan diseases was launched – Harvikhaiguste keskus (https://www.kliinikum.ee/harvikhaigused/) – where doctors, patients, and their families can refer with variable questions (mainly about diagnosis, follow-up, treatment, rehabilitation, social rights etc.) and multidisciplinary consultations are performed.
The clinical department interacts closely with molecular, cytogenetic, and metabolic diagnostic laboratories. The accredited diagnostic genetics laboratory performs molecular genetics, molecular cytogenetic, and cytogenetic testing. It applies state-of-the-art NGS-based approaches, including multi-gene panel testing and whole-exome sequencing. Regular combined staff meetings facilitate quality improvements and case-based discussions. We also have a research interest in undiagnosed patients. If the standard diagnostic workup does not identify a clear etiology, the consultee may be offered to participate in a research project focused on the identification of new inherited diseases.
Organizzazione del centro
Tartu University Hospital (TUH) is the largest health care provider in Estonia. High-quality tertiary medical care is offered in nearly all specialties. TUH provides inpatient, outpatient, and community-based services to patients living all over Estonia and institutionalized, outpatient or e-medical services for visitors to the country or patients from other countries worldwide.
TUH is the only medical institution in Estonia to provide genetic testing and genetic counseling in a wide range of clinical indications and all age groups. TUH provides medical care to patients in all groups, from birth to death, with congenital malformation and intellectual disability.
TUH is the only academic hospital in Estonia. It plays a major role in undergraduate and postgraduate medical fields studies. As the leading teaching hospital, all the staff is trained to supervise students and residents from the Faculty of Medicine, nursing students, and colleagues from other hospitals.
The third undoubtedly important part is research. In addition to everyday duties of serving patients and teaching future medical specialists, TUH integrates work with scientific research. Education and research are undertaken in close collaboration with the Faculty of Medicine. Both Medical Faculty at the University and University Hospital are widely known for clinical trials and clinical research in human health. In addition, the tight cooperation between the University and the University Hospital creates mutual synergy between preclinical and clinical research.