Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa

Christian Schön; Elvir Becirovic; Martin Biel; Stylianos Michalakis

doi:10.1007/978-1-4939-7522-8_3

Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa

Methods Mol Biol. 2018:1715:33-46. doi: 10.1007/978-1-4939-7522-8_3.

Authors

Christian Schön¹, Elvir Becirovic¹, Martin Biel¹, Stylianos Michalakis²

Affiliations

¹ Department of Pharmacy, Center for Drug Research, Center for Integrated Protein Science Munich CiPSM, Ludwig-Maximilian-University, Munich, Germany.
² Department of Pharmacy, Center for Drug Research, Center for Integrated Protein Science Munich CiPSM, Ludwig-Maximilian-University, Munich, Germany. michalakis@lmu.de.

PMID: 29188504
DOI: 10.1007/978-1-4939-7522-8_3

Abstract

Achromatopsia (ACHM) and retinitis pigmentosa (RP) are inherited disorders caused by mutations in cone and rod photoreceptor-specific genes, respectively. ACHM strongly impairs daylight vision, whereas RP initially affects night vision and daylight vision at later stages. Currently, gene supplementation therapies utilizing recombinant adeno-associated virus (rAAV) vectors are being developed for various forms of ACHM and RP. In this chapter, we describe the procedure of designing and developing specific and efficient rAAV vectors for cone- and rod-specific gene supplementation.

Keywords: ACHM; Achromatopsia; Cone photoreceptors; Gene therapy; RP; Recombinant adeno-associated virus vectors; Retinitis pigmentosa; Rod photoreceptors; rAAV vectors.

MeSH terms

Color Vision Defects / genetics
Color Vision Defects / therapy*
Dependovirus / genetics*
Gene Transfer Techniques*
Genetic Therapy / methods*
Genetic Vectors*
HEK293 Cells
Humans
Plasmids
Retinitis Pigmentosa / genetics
Retinitis Pigmentosa / therapy*