Researchers from the Progreso y Salud Foundation, an entity under the Ministry of Health and Consumer Affairs, in collaboration with the University of Zaragoza, are studying a new therapeutic route for hereditary retinal dystrophies (HRD), mainly retinitis pigmentosa (RP). ), a genetic disease that is the leading cause of hereditary blindness in adults.
Andalusian scientists led by Francisco Díaz Corrales – principal investigator of the “Retinal Degeneration: From Genetics to Therapy” group at CABIMER – have launched a research project in collaboration with Silvia Hernández-Ainsa from the University of Zaragoza. The work, called the Neurall Project, aims to develop a new multivalent non-viral vector for the delivery of therapeutic genes in the retina.
Specifically, researchers from the Progreso y Salud Foundation will be responsible for safety and effectiveness studies in RP models. “The goal – explains Díaz Corrales – is to generate a multivalent non-viral vector that will allow the safe and effective treatment of these diseases with gene therapy, as well as the creation of predictive human preclinical models for their development and future characterization.”
According to Díaz Corrales, “gene therapy and gene editing offer promising alternatives to the treatment of DHR.” However, the production of adeno-associated viruses (which serve as vehicles for the application of these therapies) is an expensive and complicated process. “In addition, the storage capacity of the genetic material in these vectors is limited.”
In this sense, this project exploits nanotechnology, which offers a real, biocompatible and proven alternative for the delivery of therapeutic genetic material and can surpass the potential and effectiveness of adeno-associated viruses.
DHR have an estimated prevalence of one case per 1,000 to 4,000 population. It is estimated to affect more than two million people worldwide and in Spain it is estimated that around 30,000 people may be affected. The term DHR encompasses a group of diseases with a broad genetic basis and very heterogeneous molecular and cellular mechanisms that ultimately lead to chronic and progressive degeneration of the retina.
This project was supported by two patient associations, in particular the ENACH Patients’ Association (Neurodegeneration due to cerebral iron accumulation), since some patients with iron deposits also develop retinal degeneration; and the CRB1 Patients Association, as mutations in the CRB1 gene are a common cause of retinitis pigmentosa.
The Foundation to Fight Blindness, FUNDALUCE, has announced that it will present its 2022 awards to both lead researchers of this project. According to this government foundation, “their teamwork has been fundamental to this promising advance in the treatment of DHR, offering an innovative and hopeful approach using a multivalent non-viral vector with the potential to improve the quality of life of thousands of people involved.” suffering from hereditary diseases.
The FUNDALUCE Awards are an award given annually to “outstanding researchers who have demonstrated exceptional dedication and commitment to advancing ophthalmic research and improving the understanding and treatment of vision disorders.”