The Rare Diseases Department adopts a multidisciplinary and multiprofessional approach, maintaining a strong commitment to collecting information on and documenting rare diseases.
The UOC staff is involved in maintaining a helpline for patients, their families, and health professionals to provide useful, general news about rare diseases and the current organisation of the regional and national networks. It also participates in the network, coordinated by the Istituto Superiore di Sanità, of institutional helplines (a national toll-free number that offers information) dedicated to rare diseases.
This unit also supports the development of research projects, both basic and clinical, on rare diseases that are studied at the Daccò Centre.
Knowledge is developed by maintaining Disease Registries, which enable the collection of very valuable epidemiological data and provide a useful tool for answering complex questions, thanks to the availability of clinical information and biological samples/specimens
Aims/Objectives
• Provide up-to-date information on rare diseases
• Maintain, enhance and monitor the information and documentation service on rare diseases (helpline) for patients, their families and health professionals
• Foster collaboration with patient associations and federations dedicated to rare diseases
• Support the Coordinating Centre for the Regional Rare Diseases Network, collaborating with DG Welfare in relevant areas
• Update Disease Registries constantly
• Help collect data and case histories to assist in the development of multidisciplinary research projects (basic research, epidemiological research, clinical research) for the rare diseases studied at the Daccò Centre
METHODOLOGICAL APPROACHES
• Creating web-based applications for storing rare disease and patient information (developed with HTML and PHP code for the front-end, MySQL for the back end, with client/server architecture)
• Developing data validation procedures, relational database design (MySQL) and ad hoc scripts (Python and R) for data analysis of the Regional Rare Disease Registry
• Managing the website of the Coordination Centre of the Regional Rare Disease Network (Joomla! Content Management System) and creating web-based applications to share information from relational databases
• Adhering to the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines for implementing an integrated genetic counselling model
• Adopting consistent and effective communication strategies tailored to the audience (patient, family member, health care provider)
• Applying the unsupervised classification technique (unsupervised cluster analysis) as an objective, data-driven tool to identify homogeneous groups of patients from the data (clinical, biochemical, genetic, histological) available in the Disease Registries
• Adhering to and applying GDPR and national regulations for processing personal data in the context of sharing information and counselling
Related Structures
