Special Issue "Molecular Therapies for Inherited Retinal Diseases"
Deadline for manuscript submissions: closed (1 March 2019) | Viewed by 37764
A printed edition of this Special Issue is available here.
Interests: gene augmentation therapy; inherited retinal diseases; optogenetics; Retinitis Pigmentosa; Stargardt disease; splicing modulation; vertebrate model systems
2. Department of Human Genetics and Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands
Interests: RNA editing; RNA delivery; genome editing; induced pluripotent stem cell technology; inherited retinal diseases; splicing modulation; molecular therapies; neurometabolic diseases; congenital disorders of glycosylation
Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, the possibilities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. ‘Classical’ gene augmentation therapy has been under study for several genetic subtypes of IRD, and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opens avenues for the development of other strategies. Yet, every gene—or even every mutation—may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. Besides gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state-of-the-art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside. This issue is not meant to include papers on therapeutic strategies for multifactorial eye diseases, such as age-related macular degeneration, glaucoma or myopia, nor on non-molecular therapeutics of IRDs such as cell replacement therapy or retinal implants.
Dr. Rob W.J. Collin
Dr. Alejandro Garanto
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- Inherited retinal disease
- Molecular therapy
- Gene augmentation
- Splicing modulation
- Genome editing
- RNA editing
- Delivery vectors