eprintid: 10090079
rev_number: 29
eprint_status: archive
userid: 608
dir: disk0/10/09/00/79
datestamp: 2020-01-22 10:45:39
lastmod: 2021-10-04 00:17:05
status_changed: 2020-01-22 10:45:39
type: proceedings_section
metadata_visibility: show
creators_name: Perdigao, PRL
creators_name: van der Spuy, J
title: Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D08
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
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
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.
date: 2019-12-29
date_type: published
publisher: Springer
official_url: https://doi.org/10.1007/978-3-030-27378-1_16
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1740260
doi: 10.1007/978-3-030-27378-1_16
isbn_13: 978-3-030-27377-4
lyricists_name: van der Spuy, Jacqueline
lyricists_id: JVAND30
actors_name: Austen, Jennifer
actors_id: JAUST66
actors_role: owner
full_text_status: public
series: Advances in Experimental Medicine and Biology
volume: 1185
place_of_pub: Cham, Switzerland
pagerange: 97-101
event_title: XVIII International Symposium on Retinal Degeneration (RD2018)
book_title: Retinal Degenerative Diseases
editors_name: Bowes Rickman, C
editors_name: Grimm, C
editors_name: Anderson, RE
editors_name: Ash, JD
editors_name: LaVail, MM
editors_name: Hollyfield, JG
citation:        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   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10090079/3/van%20der%20Spuy%20XX.Perdigao.pdf