Genetic risks and therapy development in retinal degeneration

Grassmann, Felix and Weber, Bernhard (2017) Genetic risks and therapy development in retinal degeneration. MEDIZINISCHE GENETIK, 29 (2). pp. 195-201. ISSN 1863-5490,

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Abstract

Understanding the genetic causes of monogenic and complex retinal degenerations is crucial in elucidating the basic physiological processes involved in the development of the respective disease. Building upon such an insight will enable the development of therapies precisely tailored to patients. This review summarizes the present state of knowledge on the genetics of hereditary retinal dystrophies and complex retinal degeneration, implicating a number of causal mechanisms and molecular pathological conditions underlying the clinically and genetically heterogeneous symptoms of retinal degeneration. Building on this knowledge, the role of genetics in devising treatment strategies becomes obvious and is revealed by a plethora of therapeutic treatments in this field. Some of these will be explored in more depth, with selected examples, in other articles included in this special issue of Medizinische Genetik.

Item Type: Article
Uncontrolled Keywords: GENOME-WIDE ASSOCIATION; OPEN-ANGLE GLAUCOMA; MACULAR DEGENERATION; SUSCEPTIBILITY LOCI; MESSENGER-RNA; ARMS2; AMD; VARIANTS; HTRA1; DYSTROPHIES; Hereditary retinal dystrophy; Complex retinal degeneration; Genetics; Genetic risk factors; Therapy development
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Humangenetik
Depositing User: Dr. Gernot Deinzer
Date Deposited: 14 Dec 2018 13:10
Last Modified: 18 Feb 2019 12:44
URI: https://pred.uni-regensburg.de/id/eprint/736

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