Genetic Therapies for Eye and Brain: Advancing Clinical Translation

The development of genetic therapeutics for both rare and common diseases is evolving rapidly, particularly in terms of local delivery to the central nervous system (CNS), including the brain and the eye. In fact, the eye is at the forefront of genetic therapeutic development due to its relatively easy delivery, contained environment, and non-invasive readouts. This is further supported by the fact that the first FDA and EMA-approved gene replacement therapy (Luxturna) and the first antisense oligonucleotide approved (Vitravene) were aimed to target the eye. In addition, several other AAV, antisense, or genome editing-based molecules are currently in an advanced clinical trial stage. For the brain, a similar trend is observed in the development of novel therapeutic strategies and delivery methods, such as AAVs that can cross the blood-brain barrier.

In this special issue, we aim to gather manuscripts describing the progress of the preclinical and clinical development of novel therapeutic approaches at the genetic level (i.e., gene replacement, genome editing, nucleic acid therapeutics) for CNS diseases affecting the eye and/or the brain. This includes novel delivery strategies, preclinical work for common, rare or n-of-1/a few cases, clinical trials, as well as lessons learned from inconclusive data or negative results, which are often unpublished and not shared with the scientific community. Addressing these aspects is crucial for advancing the field and accelerate the translation towards the clinic.

We invite the submission of original research articles related to the topics outlined above. In your cover letter, please specify that your submission is intended for the special issue titled "Genetic Therapies for Eye and Brain: Advancing Clinical Translation." Review articles are also encouraged, provided the topic is first discussed and approved by the guest editors. For more questions, do not hesitate to contact Dr. Koster or Dr. Garanto.

Deadline for first submissions: 31^st July 2025

Keywords: Advanced Therapeutics, Central Nervous System, Brain, Eye, Local Administration, Preclinical, Clinical, Gene Therapy, Gene Supplementation, Nucleic Acid Therapies, Gene Editing, Antisense Oligonucleotides

Guest Editors:

Dr. Ir. Céline Koster, Department of Ophthalmology and Department of Human Genetics, University of Amsterdam, The Netherlands 

Dr. Ir. Koster completed her PhD at the section Ophthalmogenetics of the Department of Human Genetics at the Amsterdam University Medical Centers (Amsterdam UMC) in 2022. During her PhD project, she worked on stem cell differentiation protocols towards retinal pigment epithelium cells, the development of new animal models for retinal degenerative diseases and phenotyping strategies of these preclinical models. She currently works as a postdoctoral researcher at the Departments of Human Genetics and Ophthalmology at the Amsterdam UMC and tests experimental therapies for retinal degenerative diseases including stem cell-derived transplantation and gene therapy approaches in preclinical models.
Click here for Dr. Koster's webpage.

Dr. Alejandro Garanto, Department of Pediatrics, Amalia Children´s Hospital, and Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands

Dr. Garanto conducted his PhD studies at the Department of Human Genetics of The University of Barcelona. After the completion of his PhD (2011) on the functional characterization of a gene associated with inherited retinal disease, he conducted a postdoc in which he worked on the role of deubiquitinating enzymes and their role in the retinal fate. In 2012, he moved to Nijmegen, where he focused his career towards the development of novel personalized therapeutic interventions for inherited retinal disease. In 2021, after a successful tenure-track, he established his own group at the Department of Pediatrics and Department of Human Genetics on therapeutic RNA and DNA editing for retinal and neurometabolic diseases. Currently, he is an Associate Professor and Research Group Leader at the Radboudumc. Click here for Dr. Garanto's webpage.