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Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects

Perdigao, PRL; van der Spuy, J; (2019) Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects. In: Bowes Rickman, C and Grimm, C and Anderson, RE and Ash, JD and LaVail, MM and Hollyfield, JG, (eds.) Retinal Degenerative Diseases. (pp. pp. 97-101). Springer: Cham, Switzerland. Green open access

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Abstract

Leber congenital amaurosis (LCA) caused by AIPL1 mutations is one of the most severe forms of inherited retinal degeneration (IRD). The rapid and extensive photoreceptor degeneration challenges the development of potential treatments. Nevertheless, preclinical studies show that both gene augmentation and photoreceptor transplantation can regenerate and restore retinal function in animal models of AIPL1-associated LCA. However, questions regarding long-term benefit and safety still remain as these therapies advance towards clinical application. Ground-breaking advances in stem cell technology and genome editing are examples of alternative therapeutic approaches and address some of the limitations associated with previous methods. The continuous development of these cutting-edge biotechnologies paves the way towards a bright future not only for AIPL1-associated LCA patients but also other forms of IRD.

Type: Proceedings paper
Title: Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects
Event: XVIII International Symposium on Retinal Degeneration (RD2018)
ISBN-13: 978-3-030-27377-4
Open access status: An open access version is available from UCL Discovery
DOI: 10.1007/978-3-030-27378-1_16
Publisher version: https://doi.org/10.1007/978-3-030-27378-1_16
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Adeno-associated virus (AAV), Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1), CRISPR/Cas9, Cell therapy, Gene therapy, Genome editing, Leber congenital amaurosis (LCA), Photoreceptor transplantation, Retinal degeneration, Stem cell
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10090079
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