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AAV Serotypes and Their Suitability for Retinal Gene Therapy

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Retinal Degenerative Diseases XIX

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1415))

Abstract

Throughout the last 25 years, exceptional progress in retinal gene therapy was achieved. The major breakthrough was realized in 2017 when the FDA approved the adeno-associated virus (AAV)-based gene therapy for treatment of the monogenetic disorder Leber congenital amaurosis type 2 (LCA2). Since then, many therapies for inherited retinal diseases (IRD) reached phase I/II clinical trials, targeting diseases like achromatopsia, choroideremia, retinitis pigmentosa, Stargardt disease, and many more (reviewed in (Trapani and Auricchio, Trends Mol Med 24:669–681, 2018)). Advanced vector and capsid design technologies as well as improved gene transfer and gene editing methods may lead to refined therapies for various eye diseases. Many research departments worldwide focus on optimizing transgene expression by designing novel AAV serotypes. Besides serotype tropism, the method of injection (intravitreal, subretinal, or suprachoroidal) (Han et al., Hum Gene Ther 31:1288–1299, 2020) defines the efficiency outcome along with the use of tissue-specific promotors which play a critical role for cell targeting.

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Abbreviations

AAP:

Assembly-activating protein

AAV:

Adeno-associated virus

c-Met:

Hepatocyte growth factor receptor

FGFR1:

Fibroblast growth factor receptor 1

HSPG:

Heparan sulfate proteoglycan

IRD:

Inherited retinal diseases

ITR:

Inverted terminal repeats

LCA2:

Leber congenital amaurosis type 2

rAAV:

Recombinant AAV

RPE:

Retinal pigment epithelium

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Author information

Authors and Affiliations

  1. Lab for Retinal Cell Biology, Department of Ophthalmology, University Hospital Zurich, University of Zurich, Schlieren, Switzerland

    Lynn J. A. Ebner & Christian Grimm

Authors
  1. Lynn J. A. Ebner
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  2. Christian Grimm
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Corresponding author

Correspondence to Lynn J. A. Ebner .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    John D. Ash

  2. Ocular Genomics InstituteDepartment of OphthalmologyMassachusetts Eye and Ear InfirmaryHarvard Medical School, Boston, MA, USA

    Eric Pierce

  3. Health Sciences Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

    Robert E. Anderson

  4. Department of Ophthalmology, Duke Medical Center, Durham, NC, USA

    Catherine Bowes Rickman

  5. Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

    Joe G. Hollyfield

  6. Laboratory for Retinal Cell BiologyDepartment of OphthalmologyUniversity Hospital Zurich, University of Zurich, Schlieren, Switzerland

    Christian Grimm

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Ebner, L.J.A., Grimm, C. (2023). AAV Serotypes and Their Suitability for Retinal Gene Therapy. In: Ash, J.D., Pierce, E., Anderson, R.E., Bowes Rickman, C., Hollyfield, J.G., Grimm, C. (eds) Retinal Degenerative Diseases XIX. Advances in Experimental Medicine and Biology, vol 1415. Springer, Cham. https://doi.org/10.1007/978-3-031-27681-1_20

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