Training in Nephrogenetics and its Implementation in the Tubulopathies Outpatient Clinic of the Nephrology Department at Escola Paulista de Medicina, Federal University of São Paulo

• Grant number: 25/03589-2
• Support Opportunities: Scholarships abroad - Research
• Start date: May 06, 2025
• End date: August 05, 2025
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Ana Cristina Carvalho de Matos
• Grantee: Ana Cristina Carvalho de Matos
• Host Investigator: Aude Servais
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Institution abroad: Université Paris Cité, France

Abstract

Genetic testing has become a fundamental pillar in the investigation of hereditary kidney diseases, especially monogenic tubulopathies. However, its implementation in clinical practice still faces significant challenges, such as the correct indication of tests, the selection of the appropriate methodology, the interpretation of findings by bioinformaticians and geneticists, and the provision of genetic counseling to patients and their families.In Brazil, genetic testing for hereditary kidney diseases is not yet widely incorporated into nephrology practice. The lack of specific training limits early diagnosis, increases costs due to unnecessary invasive tests, and hinders the implementation of personalized therapies.Given this scenario, it is essential to train nephrologists to understand the entire genetic testing process, from clinical indication to the application of results in patient care. The main objective of this project is to enable the candidate to undergo comprehensive training in nephrogenetics at a reference center in France, gaining experience in all stages of the diagnostic process for hereditary tubulopathies. Upon returning, the candidate intends to implement genetic testing in the laboratories of the Nephrology Discipline at the Federal University of São Paulo (Unifesp), contributing to the improvement of care for patients with these rare diseases.The proposed training will have a direct impact on the candidate's clinical and academic practice, as she currently works as a nephrologist at Unifesp, engaging in three main areas:Clinical care - managing patients with nephrolithiasis, hereditary tubulopathies, and polycystic kidney disease in specialized outpatient clinics.Teaching and supervision - mentoring residents in internal medicine and nephrology, contributing to the training of future specialists.Scientific research - actively participating in scientific meetings and collaborating in clinical research studies, fostering knowledge production in the field.In a public healthcare system with limited resources, it is crucial to determine when genetic tests are truly necessary, ensuring the rational use of these diagnostic tools. The knowledge acquired during the training will help optimize this approach, reducing costs and improving diagnostic and therapeutic precision.The Necker-Enfants Malades Hospital was selected as the reference institution due to its excellence in treating hereditary kidney diseases in both children and adults. The hospital is part of MARHEA (MAladies REnales Héréditaires de l'Adulte et de l'Enfant) and is integrated into ERKNet (European Reference Network for Rare Kidney Diseases). In addition to having a specialized multidisciplinary team, the center maintains structured disease registries and well-established clinical protocols, allowing the candidate to gain experience in advanced methodologies that can be adapted to the Brazilian healthcare context.