Overview
Project Summary
This research project is a clinical and multicentric study that pretends to characterize epidemiologically and clinically portuguese patients with optic atrophy, in particular Leber’s Hereditary Optic Atrophy (LHON), in Portugal. We will also evaluate the genetic causes, study the impact of genetic mutations and determine its pathogenicity, with functional studies, in order to elucidate the cause and disease mechanisms, with the perspective of contributing also for the development of therapeutic approaches. This project includes the bigenomic analysis of patients with optic nerve atrophy in Portugal. Whole exome, besides the complete analysis of mitochondrial genome (mtDNA) by next generation sequencing (NGS), integrates a method directed to codifying regions in the nuclear genome, allowing to discover the genes with higher probability of affecting the clinical phenotype, and offers an accessible combination of cost/time. Thus, a NGS approach allows a genetic diagnosis in patients with different types of hereditary eye disorders, using only one test. The determination of genetic diagnosis brings huge benefits to clinical diagnosis, regarding the assessment of the inheritance pattern, as well as disease management, including genetic counselling and therapeutics. We pretend that the entire portuguese population will benefit from the study, because the approach would broaden to encompass the patients of all Portuguese regions, with international repercussions in LHON management.
Main Goals
This project aims to fill out the existing gap and implement a new approach in genetic diagnosis of optic atrophy in Portugal, with the possibility of being applied in other countries. It is an innovative study, because it will allow us to identify causes and elucidate etiological mechanisms in Optic Atrophies, particularly in LHON, which may have much relevance in application and development of treatments.
Coordination
Project Details
Project Code
N/A
Start Date
2018-06-01
End Date
2022-05-31
