Project title: Metabolic diagnostic center

Project start date: 15. 8. 2008
Project completion date: 30. 4. 2011
Budget: EUR 1 277 962
Project guarantor (workplace): IMD, MUDr. Sylvie Šťastná, CSc., MBA

Project brief:

The project is implemented at the Institute of Inherited Metabolic Disorders of the General University Hospital in Prague (ÚDMP) (www.udmp.cz).

The project is funded by the Norwegian Financial Mechanism (85%, € 1,086,268) and the VFN (15%) and will be implemented in 2008-2011.

Objectives of the Metabolic Diagnostic Center:

The main goal of the project is to contribute significantly to increase the effectiveness of diagnostics of hereditary metabolic disorders (DMP) in the Institute of Drug Control in patients in the Czech Republic. We want to achieve this by extending and improving diagnostics in the DMP laboratory:

• the laboratory equipment will be renewed and supplemented with cutting-edge analytical instruments;
• a set of diagnostic methods and diagnostic procedures will be modified and extended;
• the internal and external quality control system will be expanded;
• the quality of the laboratory will be verified by its accreditation according to CSN EN ISO / IEC 15189;
• to raise the level of clinical differential diagnosis of attending physicians a book of case reports of DMP patients will be published and telephone and internet consultations will be provided;
• 2 information brochures about the ICMP will be issued.

All project activities are interrelated and, as a result, aimed at helping the target group.

We do not seek to merely increase the capacity of the workplace with an increase in the number of patients examined (doubling the number of patients examined would require a doubling of financial resources, staff, equipment and space), but above all, to increase the quality of the diagnostic process, ie to increase the number of patients diagnosed.

Target group In the project, patients with DMP from all over the Czech Republic, who will be diagnosed in increased numbers due to the project implementation, and their families, who will be offered genetic counseling and eventually after a precise diagnosis. and the possibility of prenatal diagnosis.

More information about the project can be found in the appendix here.

Supported by the Norwegian Financial Mechanism.