Creating an animal model for retinal dystrophies to make functional tests and open new therapy perspectives in these hereditary pathologies is the main objective of a new project driven by the University of Barcelona and ONCE, led by Professor Roser Gonzàlez, from the Department of Genetics, Microbiology and Statistics, and the Institute of Biomedicine of the University of Barcelona (IBUB).
Inherited Retinal Diseases (IRD) are hard to diagnose –clinically and genetically- and provoke retinal degeneration and lead to blindness. Therefore, identifying a new gene is not only essential for its diagnosis but also to get inside the causes of the disease, set a prognostic, identify asymptomatic family members and monitor the affected ones.
In the Faculty of Biology of the University of Barcelona, Professor Roser Gonzàlez directs the Consolidated Research Group of Functional Genomics, specialized on the study of genetic and molecular bases for eye diseases, especially degenerative retinal diseases. One of the research lines set up years ago by the team of Dr. Gonzàlez aims to identify new genes of this group of diseases and to optimize the genetic diagnose through techniques of massive exome sequencing and specific genomic panels. Moreover, the group has a distinguished scientific career on the functional study of new identified genes through the creation of cell and animal models to study in vivo and in vitro effects on mutant genes.
The new scientific project entitled “Construcción de un nuevo modelo animal de retinosis pigmentaria y estudio de su utilidad para ensayos de terapias neuroprotectoras” (Creation of a new animal model of pigmentary retinosis and study of its use in neuroprotective therapy tests), partially financially supported by ONCE, aims to create a mice model of DR through the CRISPR/Cas9 genome editing system with Cerkl gene. As previous step to make the complete phenotype analysis, the project will characterize the neurophysiological and histological alterations in the animals’ retina in vivo and in vitro. This phenotypic study is a previous requirement to assess its use as a tool for future neuroprotective tests on pharmacological, genic, or cell therapies.
The Consolidated Research Group of Functional Genomics of the UB
Dr. Roser Gonzàlez directs the Consolidated Research Group of Functional Genomics,specialized on the study of genetic and molecular bases of eye diseases, distinguished for the construction of DNA chips to ease the molecular diagnosis, and now, with functional studies, it combines these methodologies with the massive sequencing ones and the bioinformatics study of the coding regions of the genome to spread the map of genes and mutations of the IRD.
ONCE on research
Among the different services and activities ONCE carries out to fulfill their social mission, they aim to promote RDI in the fields of blindness and vision loss, through their collaboration in research projects related to ophthalmologic diseases that are more common causes of total or partial vision loss. With these collaborations, ONCE tries to promote the advanced and innovative scientific knowledge on blindness and visual deficiency, in order to encourage its prevention and development of effective treatments.
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