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