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

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.

• Authors: Christian Schön, Elvir Becirovic, Martin Biel, Stylianos Michalakis
• Journal: Methods in molecular biology (Clifton, N.J.) (Methods Mol Biol) Vol. 1715 Pg. 33-46 ( 2018) ISSN: 1940-6029 [Electronic] United States
• PMID: 29188504 (Publication Type: Journal Article)

Topics

• Color Vision Defects (genetics, therapy)
• Dependovirus (genetics)
• Gene Transfer Techniques
• Genetic Therapy (methods)
• Genetic Vectors
• HEK293 Cells
• Humans
• Plasmids
• Retinitis Pigmentosa (genetics, therapy)