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26th Annual GP2A Medicinal Chemistry Conference & 32nd Journées Franco-Belges de Pharmacochimie
Article

Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention

1
USC Roski Eye Institute, Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA
2
Department of Ophthalmology, Translational Vision Research Center, Gavin Herbert Eye Institute, University of California, Irvine, CA 92697, USA
*
Author to whom correspondence should be addressed.
Pharmaceuticals 2019, 12(2), 74; https://doi.org/10.3390/ph12020074
Received: 16 April 2019 / Revised: 8 May 2019 / Accepted: 15 May 2019 / Published: 17 May 2019
(This article belongs to the Collection New Tools for Medicinal Chemists)
The advent of genetic therapies for inherited retinal diseases (IRDs) has spurred the need for precise diagnosis and understanding of pathways for therapeutic targeting. The majority of IRDs that are clinically diagnosed, however, lack an identifiable mutation in established disease-causing loci and thus can be investigated with limited rational drug discovery methods. Transcriptome profiling of the retina can reveal the functional state of the tissue, and geographic profiling can uncover the various clinical phenotypic presentations of IRDs and aid in pharmaceutical intervention. In this investigation, we detail the retinal geographic expression of known retinal disease-causing genes in the primate retina and functional targetable pathways in specific IRDs. Understanding the genetic basis as well as the resulting functional consequences will assist in the discovery of future therapeutic interventions and provide novel insights to medicinal chemists. Herein, we report that, despite the genetic heterogeneity of retinal diseases, potential functional pathways can be elucidated for therapeutic targeting and be used for predictive phenotypic and genotypic modeling of novel IRD presentations. View Full-Text
Keywords: retina; retinal gene distribution; retinal gene functionality; inherited retinal degenerations; RNA-Seq; geographic expression; systems pharmacology; drug discovery retina; retinal gene distribution; retinal gene functionality; inherited retinal degenerations; RNA-Seq; geographic expression; systems pharmacology; drug discovery
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MDPI and ACS Style

Mustafi, D.; Arbabi, A.; Ameri, H.; Palczewski, K. Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention. Pharmaceuticals 2019, 12, 74. https://doi.org/10.3390/ph12020074

AMA Style

Mustafi D, Arbabi A, Ameri H, Palczewski K. Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention. Pharmaceuticals. 2019; 12(2):74. https://doi.org/10.3390/ph12020074

Chicago/Turabian Style

Mustafi, Debarshi, Amirmohsen Arbabi, Hossein Ameri, and Krzysztof Palczewski. 2019. "Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention" Pharmaceuticals 12, no. 2: 74. https://doi.org/10.3390/ph12020074

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