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Research activity

Rare musculoskeletal diseases. Pathogenesis, diagnosis and therapy of genetics-based rare musculoskeletal diseases 

Rare musculoskeletal diseases are a heterogeneous group of hereditary pathologies affecting the connective tissue. Their rarity (with a variable incidence between 1/25.000 and 1/100.000 and above) constitutes a challenge for the healthcare system, complicating the diagnosis, take-in-charge and cure of patients, and consequently, the identification of treatments and adequate therapies.

The CLIBI Laboratory performs research, development and consulting activities in the sector of eHealth. It projects and implements innovative tools for the acquisition and management of data connected to the study of hereditary pathologies. In addition, it supports the creation of networks capable of simplifying the healthcare pathways and the care processes addressing orphaned patients. 

Finally, among the primary activities of the CLIBI we provide consulting, support to projecting, editing and accounting of projects, of both industrial and research nature.

Projects

  • CORBEL - Coordinated Research Infrastructures Building Enduring Life-science services Call: H2020-INFRADEV-4-2014-2015;
  • GE.D.I. - Genotype-phenotype Data Integration platform, Call: POR-FESR 2014-2020 - AXIS 1 Research and Innovation;
  • Registry of Multiple Exostoses: data extraction, elaboration and analysis - AGREEMENT FOR FEE-PER-SERVICE;
  • LOGISANA- New open innovation models for distributive processes and healthcare logistics – Triennial Program for Productive Activities – Activity 5.1 “Sustain to the development of infrastructures for competitivity and the territory”.

BIG DATA – Pathology, Omics & Clinical Trial Registers

The CLIBI participates to the realization of platforms managing the collected data from a patient-centered, precision medicine perspective; being, in parallel, constantly aligned with the national and European decrees concerning the safeguard of privacy and the safety of personal data. 

These activities stimulate innovation in several areas of the biomedical sector: from the realization of pathology registers, to the traceability of biological samples and their related metadata, to the analysis of family trees. This is realized by utilizing ontologies and vocabularies which facilitate data interoperability according to the FAIR principles. 

Potential preclinical and clinical studies can stem from the analysis and interpretation of the collected (big) data; in fact, the CLIBI supports epidemiologic and diagnostic studies in the sector of rare skeletal and oncologic pathologies. The described activities aim at a) correlating pathologies and genetic backgrounds, b) supporting the safety and efficacy study of new pharmaceuticals or new devices; c) developing IT supports for the personalization of cures and d) realizing Natural History studies.

Analysis of Next Generation Sequencing data

The presence at the Institute of new-generation sequencing (NGS) platforms, and the participation to innovative projects in the field of Omics, provide for the involvement of the CLIBI in the analysis of Big Data. This is realized by supporting advanced studies in genetics, aiming at improving and accelerating the diagnostic pathway and the research activities.    

High Quality Biobanking

Finally, the CLIBI laboratory supports IT systems for the management of data related to the preservation of biological samples, pursuing high-quality standards.  

Such data, including temperature, timings, aliquoting and other characterizing information, result crucial in guaranteeing the reliability of the samples that are utilized in genetics and genomics studies. In addition, the CLIBI supplies the additional information which is necessary for this kind of studies, providing clinical data (a punctual recording of the clinical outcomes), data related to the family (familiar history, hereditariness and so forth) and personal information (age, sex and so forth) on the patients and their samples, coherently with the current legislation (GDPR).