Project Title:

Platform for sharing and consulting genomic and clinical data applied to Neurosciences


Santa Lucia Foundation

Project Manager:

Prof. Carlo Caltagirone

The platform for sharing and consulting clinical and genomic data is mainly focused on the sharing of knowledge, protocols, genomic and clinical data, in order to promote the standardization and optimization of patients’ clinical-care and therapeutic strategies. In particular, the platform aims to implement the new provisions and directives included in the “Healthcare innovation plan based on omic sciences”, which have been published in the Official Journal of 18 January 2018.
The implementation of genomics in our national healthcare system could be economically sustainable only through a rationalized use of resources and a coordinated management of the diagnostic health services throughout the country.

The collection and classification of information on the platform will enable the generation of a national database of genomic and transcriptomic data. Specific analytical protocols (pipelines) will be developed for single pathology or for selected groups of diseases. These pipelines will enable the standardization of the genetic data required for diagnosis which are produced by the different genomic platforms and are made available to the IRCCS of the Network.
In particular, standardized protocols will be created in order to guarantee quality, validity and reproducibility of the same diagnosis, even if it is performed with different methodologies and/or completed in different Institutes.

Particular attention will be paid to the informed consent forms, which will be updated, standardized for diagnostic or research purposes and will be made available to the institutes of the Network. These forms will apply the directives of the “EU General Data Protection Regulation” (2016/679 in force since 25 May 2018), in order to increase the use and the data-sharing and to promote the scientific research and the clinical use of research results.

The integration of the clinical, genomic and instrumental information will allow a better characterization of the neurological and neurodegenerative diseases, revealing possible associations among genomic and transcriptomic data, individual prognostic profiles and personal response to drug in terms of efficacy and safety. In this perspective, the platform will be able to identify diagnostic, prognostic and pharmacogenomic biomarkers.

Moreover, the overall data will consent the generation of an atlas including the genomic variants observed within the Italian population. In particular, the database will be employed for future research and for providing a complete set of genomic information about the Italian population.

Clinical care objectives
  • Standardize the informed consent forms for research and diagnostic purposes

  • Provide an inventory of the available instruments

  • Provide an inventory of the available diagnostic health services

  • Define the standardized diagnostic protocols on the basis of the analysed genes and the interpretation criteria

  • Select patients and collect biological samples, clinical data and family history

  • Phenotypic and sub-phenotypic characterization of the different forms of disease

  • Extract the epidemiological data concerning neurodegenerative pathologies throughout the country

  • Extract the statistical data concerning the individual response to the treatments of neurodegenerative pathologies throughout the country

Scientific objectives
  • Genomic and transcriptomic characterization of several collected samples from patients, their relatives and from healthy population

  • Creation of a national atlas of the genomic variants detected in the Italian population

  • Creation of educational and e-learning programs for high-school students and graduated students

  • Development of advanced educational courses addressed to PhD students, PhDs and physicians, aimed to provide them with professional expertise in the fields of high-tech scientific research and instruments for data-analysis

Technical-Technological Objectives
  • Development of an integrated web-based platform for the management and data-sharing among the IRCCS of the Network

  • Development of standardized analytical protocols for traditional and new generation analyses which can also be applied to different technologies

  • Definition of the minimum criteria for the quality, validity and reproducibility of NGS data

For additional informations, please write at the following email address: