Characterization of the Methylation Profile of Stored Human Samples

Istituto Ortopedico Rizzoli90 enrolled

Overview

The project, funded by the PNRR under Mission 4 "Education and Research," aims to strengthen the network of Italian biobanks by improving data management in accordance with the FAIR principles (Findable, Accessible, Interoperable, Reusable). The University of Trento has issued a call for proposals to support Italian biobanks in characterizing samples and expanding associated datasets using advanced technologies. The Biological Resource Center at the Rizzoli Orthopedic Institute in Bologna participated in this call for proposals, requesting funding to analyze the DNA methylation profiles of three patient cohorts: those with inflammatory/degenerative diseases, sarcomas, and rare genetic musculoskeletal disorders. This study will contribute to understanding the biological significance of methylation and exploring its diagnostic and therapeutic potential. The initiative aims to generate data useful for personalized medicine and improve the management of the diseases involved.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Rare Disorders Sarcoma of Bone and Connective Tissue Inflammatory Articular Diseases

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Be a patient with a sample stored in one of the biobanks belonging to the CRB IOR * Have one of the following conditions: a rare skeletal disorder, sarcoma, or inflammatory arthritis. Exclusion Criteria: * Patients who have refused to consent to the use of their samples or the processing of their data for genetic studies * Patients who have refused to consent to the transfer of their samples outside the IOR

Outcomes

Primary Outcomes

methylation profiles

Detect the methylation profiles of a cohort of samples stored at the CRB (rare genetic diseases, sarcomas, inflammatory arthritis) to expand the dataset of samples held at the CRB-IOR.

Time frame: 5 months

Secondary Outcomes

Fairyfication of methilation profiles

Fairyfication of data derived from methilation profiles to be linked to biological samples present on BBMRI catalogue. Data comprises desease (orphacode, ICD10), age (years month), sample type (blood, tissue, DNA), sample collection date (dd/mm/yyyy), gender (F, M), Informed Consent (mandatory)