Retinal electrodiagnosis in inherited and acquired diseases: experimental signal processing and genotype-phenotype correlations in patients

• Grant number: 23/07925-1
• Support Opportunities: Research Grants - Visiting Researcher Grant - International
• Start date: February 01, 2024
• End date: January 31, 2025
• Field of knowledge: Humanities - Psychology - Physiological Psychology
• Principal Investigator: Dora Selma Fix Ventura
• Grantee: Dora Selma Fix Ventura
• Visiting researcher: Mirella Telles Salgueiro Barboni
• Visiting researcher institution: Semmelweis University, Hungary
• Host Institution: Instituto de Psicologia (IP). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 22/00191-0 - Mechanisms, genetics and performance of the visual system: clinical research in humans and animal experiments, AP.TEM

Abstract

The present proposal describes scientific activities for a visiting researcher with the Vision Laboratory in the Institute of Psychology at the University of São Paulo (USP) as the host institution for the visit of Dr. Mirella Barboni, associate scientist in the Department of Ophthalmology at Semmelweis University of Budapest in Hungary. The main objectives of the visit are to strengthen the scientific research collaborations that have been established between the two groups and to promote the participation of the researcher in different stages of subprojects of the Thematic Project (FAPESP 22/00191-0) to which this application is linked. Among the research activities planned for the visit, the participation of the visiting researcher in the development of a research project in collaboration between the Laboratory at USP and the researcher's Department in Hungary is included. The project aims to analyze DNA samples from patients with congenital color vision deficiencies (CCVD) examined in Budapest. The objective of the study is to establish an association between the genetic characterization and retinal pathways dysfunctions in the presence of hybrid cone opsin (anomalous trichromatic subjects). The study started previously as a result of a collaboration with Professor Jan Kremers from Germany. Regarding the academic activities, the researcher will co-supervise three postgraduate students working on the electrophysiological and psychophysical evaluation of patients with Duchenne muscular dystrophy (DMD): Master's (CAPES 88887.702948/2022-00), PhD (FAPESEP 21/ 05442-8) and post-doctoral awarded in the Thematic Project, that is in process of being implemented. The DMD evaluations will be done in collaboration with the Departments of Pediatric Neurology and Ophthalmology of the Faculty of Medicine at USP. Other studies may have the participation of the researcher, such as a subproject of the Thematic Project that will be co-developed in the Department of Ophthalmology at the Federal University of Sao Paulo (UNIFESP) whose objective is to establish retinal biomarkers for the differential diagnosis of two types of neuro-ophthalmological diseases that can cause neuritis optic: multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) leading to low vision or irreversible blindness. The aim is to investigate possible retinal dysfunctions that would provide a correct diagnosis in the early stages of the disease when the laboratory test (anti-AQP4) could prove inconclusive and treatment needed to start before more severe visual changes are observed. Regarding the animal studies, the researcher would contribute to perform the experiments and the analysis of electrophysiological data obtained from the species studied in the Laboratory, such as fish, snakes, and rodents. The researcher would perform training of the young researchers from both clinical and animal Labs showing alternative visual assessments and automated tools for processing and analyzing electrophysiological signals that may become a postgraduate course of the Neuroscience program. We believe the visit by Mirella Barboni may promote the advancement of the studies on clinical and animal visual electrophysiology at the USP Vision Laboratory. In addition, it may further contribute to the international presence of the group by increasing the number of abstracts submitted for presentation at international conferences and the publications relative to the results obtained during the visit. (AU)