The purpose of this project fully corresponds to the content of Programme Area No. 27 of the “Public Health Initiatives” (2009-2014) – i.e. assure basic aspects of public healthcare in the area of rare diseases in the Czech Republic in the context of primary, secondary and tertiary prevention of rare diseases.
The NCCRD was commissioned with addressing this issue in the framework of NS and NAP and in cooperation with the OZS of the Ministry of Health of the Czech Republic and CAVO:
- Preparation of a concept of diagnostics, treatment and prevention of rare diseases on the basis of Norwegian experience and generally accepted European principles (for example on the basis of EUCERD.eu, Eurordis.org recommendations), adapted to the current therapeutic and preventive care in the Czech Republic, and preparation of professional documentation for audits of the existing centres for treatment of rare diseases and their further work in harmony with the proposed concept according to point 1), including professional documentation for the methodology of establishment of new centres in the healthcare system in compliance with Section 112 of Act No. 372/2011 Coll. OZS of the Ministry of Health of the Czech Republic
- Increase awareness and knowledge in the area of rare diseases among the general and professional public (physicians, non-physician healthcare professionals and other medical staff) and in pre- and post-gradual studies in cooperation and close connection and on the basis of result exchange with our Norwegian partners (at least 3 training courses, 1 chapter of a professional monograph and 1 specialised article in a professional journal). A secondary objective is development of information portals for rare diseases
- Improvement of diagnosing and secondary prevention in genetic risk families. The NCCRD will introduce and improve the algorithm of genetic examination in genetic risk families with rare disease history in the context of specialised genetic advisory service on the level of all departments of medical genetics (of state and private healthcare centres).
Another secondary objective of the project is assurance of maximum accuracy of "digital" phenotype specification of rare diseases, whether from the anthropological, clinical or genealogical point of view, with indication of specific laboratory / molecular genetic and cytogenetic examinations in connection with syndrome diagnostics (output: algorithm of the phenotype examination) and preparation of the algorithm of neuropsychiatric examination for assessment of the level of psychosomatic damage and threat to normal evolution of children and adults with rare disease (output: algorithm of the examination). At the same time assurance of the optimum combination and standard of molecular cytogenetic methods on the level of specialised sites (arrayCGH, MLPA, NGS) for assurance of pre-implantation, prenatal and postnatal diagnostics of genetically accurately defined syndromes accompanying rare diseases in close cooperation and on the basis of result exchange with Norwegian partners (output: methodology for genetic sites). Described in the activity of processing of the recommended procedures for assurance of clinical genetic and molecular genetic diagnostics of rare diseases.
- Implementation of model pharmacoeconomic studies for selected rare diseases for objective addressing of payments for therapeutic procedures for rare diseases in cooperation with the State Institute for Drug Control in Prague and iheta.org.
- Continuous extension of the bio bank of frozen serum for further improvement of diagnostics in families with rare disease history in the cryo centre of the Motol University Hospital. Described in the activity of processing of the recommended procedures for assurance of clinical genetic and molecular genetic diagnostics of rare diseases.
- Organisation of a final international conference with presentation of project outputs.
An additional project activity has been approved since 3 August 2015 – its goal is to create a database of genomic variations in a representative cohort of Czech population based on whole-exome sequencing of at least 200 individuals with the help of a pipetting system that will be acquired under the project.
Within this additional activity, there will be a pilot study with the intention to develop standards of body structure, proportions and body composition of preschool children in the age categories of 4, 5 and 6 years; each group will include 30 individuals per gender. 13 dimensions will be measured: body height, weight, head circumference, length and width of the skull, face width and height, sitting height, upper limb span, foot length, arm circumference, the skin fold over triceps and scapula. A sub-activity will include the creation of development standards for face, palate, and development of an evaluation software. The development standards of the face will be created as average virtual surface models (including variability) for the age range of 0 to 15 years. Ideally, at least 30 to 50 subjects will be included for each age and gender, i.e. 1000-1600 models, including adjustments and further analytical processing. Morphome3cs will be modified: user interface, export DCA outputs for standards calculation on surface models, average shapes for selected subgroups, statistical model for the form of the face of each gender, PCA score, topological information, import of a surface model of an individual (OBJ format), manual insertion of landmarks to the surface model, import of previously prepared standards, comparison of individuals and the norm, surface distance map, Mahalanobis distance of the main components in the area and other statistical analyses. The Natural Sciences Faculty of the Charles University in Prague will participate in this pilot project.
A further project sub-activity will be based on the collaboration with the Stomatology Department of the 2nd Faculty of Medicine and the University Hospital in Motol – it will focus on examination norms of the upper palate in the form of average virtual models for 4 age categories: 5 years (10x), 12 years (20x), 15 years (20x), 18 years (20x). An intraoral 3D scanner will be used in this process. This device will be purchased as a part of the project.
The project (reg. No. NF-CZ11-PDP-3-003-2014) called the National Coordination Centre for Rare Diseases at the University Hospital in Motol was extended until 30 April 2017. The total cost of the project is CZK 30,972,417 – a grant from the Norwegian Fund covers 80% of the project funding i.e. CZK 24,777,933, and 20%, i.e. CZK 6,194,484 comes from co-financing.