Dr. Roser Gonzàlez Duarte, professor emeritus of genetics at the University of Barcelona and founder of DBGen, attended the XXXIV Pan-American Congress of Ophthalmology held in Cancun (Mexico) from May 25 to 28, 2019. She presented a paper within the session “Clinical and molecular approaches in hereditary ocular pathologies” coordinated by Dr. Cristina Villanueva, an ophthalmologist at the APEC Hospital in Mexico City. This congress, organized by the Pan American Association of Ophthalmology (PAAO), is undoubtedly the most important scientific forum in Latin America and Brazil. More than 900 speakers from all over the world attended its 34th edition, where a great diversity of ophthalmology topics were addressed related to public health, ophthalmic surgery, and, of course, genetics and hereditary eye diseases.
In her presentation, Dr. Gonzàlez summarized the most interesting results obtained by the DBGen team in the genetic diagnosis of inherited retinal diseases in Latin American patients and highlighted the importance of validating functional predictions of pathogenicity of new nucleotide variants located in non-coding regions of the genes, introns and regulatory regions. She also explained the strategies DBGen has applied to identify structural alterations in genes that cause retinal dystrophies and the implementation of various bioinformatics and functional strategies to increase the diagnosis yield that in DBGen currently exceeds 80%.
At the end of the session, an interesting debate was opened emphasizing the importance of genetic diagnosis to inform patient’s disease prognosis and especially considering that it is an absolutely necessary first step to be able to opt for emerging gene therapies.