Objective
-To define the diagnostic criteria of primary ciliary dyskinesia (PCD);
-To improve diagnostic tools by trasferring results and techniques obtained in basic research into clinical practice;
-To prepare a manual containg information on PCD, and appropriate protocols for diagnostic and clinical practice;
-To develop a biological bank allowing current and/or future molecular studies.
The diagnostic criteria of the disease will be defined by studying the pulmonary function tests, the mucociliary clearance rate, the ultrastructural alterations of airway epithelium, and the clinical aspects of patients suspected of having PCD. Patient populations will include also healthy controls, and patients with other chronic respiratory diseases (i.e. COPD, cystic fibrosis, immunodeficiences, etc.). This study will provide significant information necessary to properly evaluate limits and advantages of the different methodologies. Additionally, comparison of data will provide a critical mass of information to define diagnostic criteria and to delineate subgroups of patients with PCD.
In a series of integrated activities new techniques obtained in basic research studies will be assessed for the suitability of diagnostic use on samples of different subgroups of patients with PCD. These techniques will be preliminary assessed on nasal and respiratory samples from different animal models of PCD. In this context, new electron microscopic techniques to enhance the details of ciliary components will be evaluated. These techniques include the use of different procedures for fixing, embedding and staining tissue samples, as well as the use of computer-aided image analysis. A new simple way for diagnosis of ciliary aplasia will be pursued by testing lymphocytes from peripheral blood for the presence of centrioles, thus avoiding multiple-site-directed biopsies from nasal and bronchial mucosa.
Taking advantage of the participants' expertise a manual reflecting scientific evaluation of current state of art of PCD will be prepared. This manual will be structured in such a way as to constitute a handbook for good clinical practice and the basis for future guidelines.
Several laboratories equipped for and experienced in molecular genetics are currently engaged to identify the gene(s) involved in PCD. By combining their resources the participating groups aim to develop a biological bank which will serve for current and/or future molecular studies on PCD.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences biological sciences genetics
- natural sciences biological sciences molecular biology molecular genetics
- medical and health sciences health sciences infectious diseases RNA viruses coronaviruses
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Coordinator
53100 Siena
Italy
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