National Coordinating Centre for Rare Diseases at the Motol University Hospitals

Project facts

Project promoter:
University Hospital Motol
Project Number:
CZ11-0002
Target groups
Non governmental organisation,
Researchers or scientists
Status:
Completed
Initial project cost:
€1,168,771
Final project cost:
€1,167,519
From Norway Grants:
€ 934,015
The project is carried out in:
Czech Republic

Description

The project is needed due to shortcomings in the field of rare diseases, including deficiencies in terms of primary, secondary and tertiary prevention in the Czech Republic. The objective of the project is to extend awareness and knowledge about rare diseases, implementation of new diagnostics methods and development of rare diseases education. The expected outcomes are diagnostic and therapeutic-preventive care for rare diseases, increased awareness and knowledge of the issue of rare diseases and improved detection and secondary prevention. This will be achieved through the development of a methodology for establishing new centers in the health care system, training events and an algorithm of genetic testing. The target groups are both the lay and professional community, including doctors, paramedical and other health care professionals. The project partner, Frambu, will take part in awareness-raising among both the professional and untrained public. The partnership is aimed at improving the detection of genetic risk families.

Summary of project results

Rare diseases are seen as such diseases occurring in fewer than five cases per 10 thousand. The rarity of a disease is a handicap for patients.More than 6 thousand diagnoses of rare diseases are described; however, efficient causal treatment is available only for several dozens of them. Determining the correct diagnosis is a big problem: physicians see such diseases only rarely and determining a diagnosis can take years. In year 2012 the National coordination center for patients with rare diseases where established at Department of Biology and Medical Genetics, University Hospital Motol. The project stemmed from the need for the quality improvement of primary, secondary and tertiary treatment, incl. their diagnosis and treatment. Within the project, Czech somatometric standards-, 3D models of jaws and upper palate and 3D “facial gestalt” metadata were established in a representative cohort of apparently healthy Czech children between 3-18 years of age. In addition, a proprietary Morpho3metrics program was improved and a pilot exome sequencing in molecular syndromology linked to human phenotype ontology and 3D facial gestalt analysis had been carried. Unique equipment purchased during the project from Norway Grants has been used within the sustainability period at UHM, and has served the entire country via NKCVO. More than ten events for the professional and non-professional public were organized and supported to raise RD awareness. A dedicated monograph “Rare Cancers” was edited and more than 250 RD patients were examined within the project through improved methods of next generation sequencing and molecular cytogenetics, a large DNA biobank from various RD was established, and the system of teaching of pre-graduate students of the 2nd Faculty of Medicine of Charles University was introduced in collaboration with CAVO. In addition, dedicated websites were developed RD. A very successful helpmail was introduced and a nationwide population specific genetic variant database was created, all of which provided a basis of excellent sustainability of the project at UHM. NKCVO prepared guidelines and endorsed participation of 17 Czech RD experts’ centers in respective European Reference Networks for rare diseases. Through the activities of NKCVO the Czech Republic is currently ranked 8th within EU28 countries and first within EU13 (EU New Member States) in terms of the scope and quality of RD ERN participation. Overall, this project was successfully completed and significantly improved care for RD in the country.

Summary of bilateral results

The first Norwegian partner to take part in the project was the Norwegian Resource Center for Rare Disorders (www.frambu.no). FRAMBU has been working with NKCVO on raising awareness among rare disease (RD) professionals and the general public in order to improve their early detection and ensured on site training of Czech RD patient organizations and/or experts in the area of health and social issues. The second Norwegian partner was Haukeland University Hospital, Bergen, Center for Medical Genetics and Molecular Medicine (www.helse-bergen.no, HUH Bergen). HUH Bergen is the top Norwegian genetic facility with which NKCVO had collaborated on the improvement of next generation sequencing diagnostics, human phenotype ontology and bioinformatics related to RD.