Title : Retinitis Pigmentosa: Novel therapeutic targets and drug Ddevelopment
Abstract:
Retinitis pigmentosa (RP) is a heterogeneous group of hereditary diseases characterized by progressive degeneration of retinal photoreceptors leading to progressive visual decline. It is the most common type of inherited retinal dystrophy and has a high burden on both patients and society. This condition causes gradual loss of vision, with its typical manifestations including nyctalopia, concentric visual field loss, and ultimately bilateral central vision loss. It is one of the leading causes of visual disability and blindness in people under 60 years old and affects over 1.5 million people worldwide. There is currently no curative treatment for people with RP, and only a small group of patients with confirmed RPE65 mutations are eligible to receive the only gene therapy on the market: voretigene neparvovec. The current therapeutic armamentarium is limited to retinoids, vitamin A supplements, protection from sunlight, visual aids, and medical and surgical interventions to treat ophthalmic comorbidities, which only aim to slow down the progression of the disease. Considering such a limited therapeutic landscape, there is an urgent need for developing new and individualized therapeutic modalities targeting retinal degeneration. Although the heterogeneity of gene mutations involved in RP makes its target treatment development difficult, recent fundamental studies showed promising progress in elucidation of the photoreceptor degeneration mechanism. The discovery of novel molecule therapeutics that can selectively target specific receptors or specific pathways will serve as a solid foundation for advanced drug development. This article is a review of recent progress in novel treatment of RP focusing on preclinical stage fundamental research on molecular targets, which will serve as a starting point for advanced drug development. We will review the alterations in the molecular pathways involved in the development of RP, mainly those regarding endoplasmic reticulum (ER) stress and apoptotic pathways, maintenance of the redox balance, and genomic stability. We will then discuss the therapeutic approaches under development, such as gene and cell therapy, as well as the recent literature identifying novel potential drug targets for RP.
Audience Take Away Notes:
- An understanding of retinitis pigmentosa (RP), and a brief overview of its clinical aspects (clinical manifestation, imaging, prognosis, etc.)
- The current therapeutic options for RP
- The need for new and individualized therapeutic modalities
- The latest research developments in the treatment of RP
Explain how the audience will be able to use what they learn?
The audience can use this knowledge to contribute to the development of new therapies, improve patient care, and potentially expand their own research in the field of ophthalmology and retinal diseases.
How will this help the audience in their job?
This information can help healthcare professionals, researchers, and scientists to better understand RP, improve their clinical practice, guide their research, and inform their educational activities.
Is this research that other faculty could use to expand their research or teaching?
Yes, the information presented can serve as a basis for further research and can be incorporated into teaching materials for healthcare professionals and students.
Does this provide a practical solution to a problem that could simplify or make a designer’s job more efficient?
While it does not provide a practical solution per se, it presents the latest research developments and potential therapeutic targets which could guide future research and therapy design.
Will it improve the accuracy of a design, or provide new information to assist in a design problem?
The information presented could potentially improve the design of new therapies for RP by providing insights into potential therapeutic targets.
