Rare diseases (RD) are heterogeneous multi-system diseases with significant impact on the quality of life and social inclusion of patients. According to Regulation (EC) 141/2000, rare diseases affect < 5 of 10,000 persons. Although rare diseases are individual and rare, there are more than 8,000 of these diseases, of which only 200 are included in the MKN10 (www.orpha.net), hence the total number of these patients in the Czech Republic is about 20,000. Rare diseases are often manifested after birth and can affect 4-5% of newborns and babies (such as metabolic disorders, genetic syndromes and rare tumours), but can also appear at the adult age. About 80% of rare diseases are caused by highly penetrant mutations. The remaining rare diseases are multi-factor or caused by epigenetic effects of the environment, with often unknown pathogenesis. Incorrect or late diagnoses may lead to irreversible health damage, psychic trauma of the patients and their families, including a lack of trust in the quality of health care. Detection and clinical diagnosis of a rare disease depends above all on the education of general paediatric practitioners.
The project objectives can be summarised in four points ("4P"): a) necessity to "think of" rare disease in the case of primary clinical suspicion in field practice; b) "recognition" of rare disease – i.e. correct diagnosing in specialised centres; c) "help" – i.e. assurance of effective therapy and prevention, and d) "financing" and preparation of pharmacoeconomic documentation for marketing of medicinal products for treatment of rare diseases.
The objectives of the "4P" projects are reflected in project activities, assuring goals of the approved Programme Agreement (PA) CZ11 – Annexe I – item 6.3 and use of the project outputs after the project completion. The project requires financial support for the development of activities of the National Coordination Centre for Rare Diseases (NCCRD) of the Institute of Biology and Medical Genetics of the Motol University Hospital and 2nd Faculty of Medicine of Charles University in Prague. The NCCRD will cooperate with the OZS of the Ministry of Health of the Czech Republic and the Czech Association for Rare Diseases (CAVO), member of the European association Eurodis.org. The requested financing from Norway Grants will be used for the NCCRD activity, which is already equipped with adequate infrastructure from previous domestic and international grant activities.
The planned activities of the NCCRD, in the sense of the "4P" and NAP tasks, will aim at:
- Increased awareness and knowledge of rare diseases among the professional and general public in cooperation with CAVO and the Norwegian partner Frambu.no in the context of population, primary prevention of rare diseases. Activity – Increased awareness of rare disease issues among the general and professional public
- The NCCRD will cooperate with the OZS of the Ministry of Health of the Czech Republic in the context of activities of the "Inter-Ministerial and Interdisciplinary Commission for Rare Diseases" in development of existing activities and preparation for establishment of new centres for improvement and standardisation of therapy and prevention of rare diseases. Activity – Preparation of professional documentation for public healthcare projects concerning rare diseases
- Introduction of the newest methods of molecular cytogenetic and genetic diagnostics with special focus on the newest methods of new generation sequencing (NGS) in prenatal and postnatal diagnostics of rare disease and clarification of molecular pathogenesis of the still poorly described rare diseases including their prospective treatment.
- Improvement of pharmacoeconomic estimate of diagnostic and therapeutic costs of selected rare disease in cooperation with the State Institute for Drug Control. Activity – Preparation of professional documentation for public healthcare projects concerning rare diseases
- Improvement of complex care of patients with rare diseases by validation and use of Norwegian partner experience in the area of public health care including application of Frambu and the partner organisation experience CAVO (Czech Association for Rare Diseases). Activity – Preparation of the recommended procedures for assurance of clinical genetic and molecular genetic diagnostics of rare diseases
- Development of pre-gradual studies of rare diseases for students of medicine and post-gradual special preparation of physicians at the 1st and 2nd Faculties of Medicine of Charles University in Prague and IPVZ.