SmartGene: Development of a device for diagnosing outcomes in patients with osteoarthritis, based on genomic and associated clinical information

• Grant number: 24/02333-1
• Support Opportunities: Research Grants - Innovative Research in Small Business - PIPE
• Start date: December 01, 2024
• End date: August 31, 2025
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Tiago Lazzaretti Fernandes
• Grantee: Tiago Lazzaretti Fernandes
• Company: SPERO SCIENCE INNOVATION BIOTECNOLOGIA EDUCACAO INOVACAO SAUDE LTDA
• CNAE: Atividades de serviços de complementação diagnóstica e terapêutica
• City: São Paulo
• Pesquisadores principais: Rafaella Rogatto de Faria

Abstract

Cartilage injuries and osteoarthritis are a public health problem with a high prevalence, which causes an enormous socioeconomic impact. Conventional treatments work to improve pain and joint function, but are not capable of altering the progression of the disease. Single Nucleotide Polymorphisms (SNPs) are genetic markers capable of helping to understand biological processes. For this reason, it is believed that polymorphisms are diagnostic products and will contribute to choosing the best treatment and clinical outcome, characterizing personalized medicine. Precision medicine is the new paradigm to be achieved in healthcare. Thus, the aim is to develop a computerized system to evaluate the relationship between genotypic and clinical information to predict a therapeutic outcome that is most suitable for the patient. A cross-sectional study will be carried out with 200 patients unresponsive to conservative treatment with physiotherapy, strengthening and guidance. A swab of the oral mucosa from each individual will be collected, and the samples will later be sent for analysis. The evaluation of genetic markers related to cartilage damage and osteoarthritis will be done following a pre-determined panel and using banks public data. This is a diagnostic product to be used in patients' clinical practice to define the best treatment. It is expected to identify polymorphisms and their correlation with functional aspects, capable of helping to understand the progression of cartilage lesions and the development of osteoarthritis, and, mainly, in choosing the best treatment, whether non-operative or operative. (AU)