Regional Registry-based Biobank Development and Pharmacogenetic Analysis: Synergistic Strategies Driving Towards Personalized Medicine in Rheumatoid Arthritis Management

Biologics have revolutionized rheumatoid arthritis (RA) management, with a great impact on patient that justifies treatment with these high-cost drugs. Nevertheless, timing and proper therapeutic decision making remain the main challenge in clinical practice.

Pharmacogenetics approach might open promising perspectives, increasing our understanding on genetic-related drug efficacy. Nevertheless, to ensure feasibility and reliability of translational applications of this strategy in clinical practice, large population-based research studies represent a crucial key step.

Objectives

Major aim of this project is the building-up of an integrated model of multidisciplinary research tools to support large-scale and high-quality disease-based studies. The main targets of this proposal will be:

• to develop a disease-based biobank, integrated with already established Emilia-Romagna regional RA Registry, providing a large-scale prospective collection and storing of multiple biological samples
• to perform a pharmacogenetic study analyzing a panel of gene variants potentially influencing the response to Tumor Necrosis Factor (TNF) blockers. Methods
• Biobank development. A step-wise plan will be considered for: designing biobank governance frame-work, defining Standard Operating Procedures, implementing information system resources. All these procedures will be applied for collecting, processing and storing biological samples of patients included in regional RA registry.
• Pharmacogenetic study. A panel of candidate gene variants will be studied in genomic DNA from 300 patients enrolled in the regional RA registry. The association between genotypes and response to biological drugs will be assessed by data-mining approach, and a predictive model will be defined. Expected Results This proposal will create a disease-based biobank, tightly integrated with the already established Emilia-Romagna regional RA Registry, and pave the way towards personalized therapy applications in Rheumatology.