Promoting Comprehensive Care for People with Rare Diseases: Strengthening the Care, Registration and Awareness Network at Hospital das Clínicas in Ribeirão Preto

• Grant number: 23/10203-8
• Support Opportunities: Research Grants - Research in Public Policies
• Start date: February 01, 2024
• End date: January 31, 2027
• Field of knowledge: Health Sciences - Collective Health - Public Health
• Principal Investigator: Domingos Alves
• Grantee: Domingos Alves
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil
• Associated researchers: Amaury Lelis Dal Fabbro ; Érico Torrieri ; Temis Maria Félix ; Victor Evangelista de Faria Ferraz
• Associated scholarship(s): 24/22679-0 - Expert Second Opinion for Rare Diseases, BP.PD; 24/19360-1 - Artificial Intelligence Applied to Rare Diseases: Optimizing the Diagnostic Itinerary in the Care Network, BP.MS; 24/19281-4 - Digital Strategies for Disseminating Information on Rare Diseases: Expanding Reach and Impact, BP.MS; + associated scholarships 24/13545-0 - Management of Implementation and Validation of Computational Tools Aligned with Comprehensive Care for People with Rare Diseases, BP.TT; 24/04976-7 - Management of Implementation and Validation of Computational Tools Aligned with Comprehensive Care for People with Rare Diseases, BP.TT; 24/06751-2 - Implementation of a knowledge management model to support health education and awareness processes in the context of rare diseases, BP.PD; 24/03631-6 - Data Integration and Analysis to Improve Public Policies on Rare Diseases, BP.TT - associated scholarships

Abstract

The implementation of the National Policy for Comprehensive Care for People with Rare Diseases (PNAIPDR) faces significant challenges due to the complexity, diversity and low prevalence of these conditions. Comprehensive care for people with rare diseases requires not only the implementation of basic actions for diagnosis and care, but also the strengthening of different existing services, programs and levels of care. These levels vary according to the financial, technical, human resources and infrastructure services that are part of the health care network. Given this scenario, it is essential to develop digital health tools that can contribute to epidemiological surveillance activities and monitoring of patients with rare diseases, as well as aimed at education and awareness among health professionals about these diseases. Such tools should allow the registration, monitoring and follow-up of patients, storing everything from basic information to data related to treatments, exams and hospitalizations. In this context, a research project focused on three lines of action is proposed: facilitating access to the care network, establishing comprehensive patient registration and monitoring, and promoting education and awareness. The project's objective is to provide up-to-date information, speed up diagnosis, foster collaboration between institutions and professionals, and combat the stigma associated with rare diseases. The importance of using up-to-date scientific knowledge and fostering network collaboration to address the complex challenges related to rare diseases is emphasized. The participation of the National Network for Rare Diseases (RARAS) and the leadership role of the Academic Health Complex of the Hospital das Clínicas de Ribeirão Preto (HCRP) are fundamental for the success of the project. By adopting this comprehensive approach, it is hoped to improve health care and quality of life for people affected by rare diseases in the country. (AU)