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Stem cells as tools for studying the genetics of inherited retinal degenerations
Journal article   Open access   Peer reviewed

Stem cells as tools for studying the genetics of inherited retinal degenerations

Luke A Wiley, Erin R Burnight, Robert F Mullins, Edwin M Stone and Budd A Tucker
Cold Spring Harbor perspectives in medicine, Vol.5(5), pp.a017160-a017160
12/11/2014
DOI: 10.1101/cshperspect.a017160
PMCID: PMC4448588
PMID: 25502747
url
https://doi.org/10.1101/cshperspect.a017160View
Published (Version of record) Open Access

Abstract

The ability to provide early clinical intervention for inherited disorders is heavily dependent on knowledge of a patient's disease-causing mutations and the resultant pathophysiologic mechanism(s). Without knowing a patient's disease-causing gene, and how gene mutations alter the health and functionality of affected cells, it would be difficult to develop and deliver patient-specific molecular or small molecule therapies. Many believe that the field of stem cell biology holds the keys to the future development of disease-, patient-, and cell-specific therapies. In the case of the eye, which is susceptible to an extremely common late-onset degenerative disease known as age-related macular degeneration, stem cell-based therapies could increase the quality of life for millions of patients worldwide. Furthermore, autologous, patient-specific induced pluripotent stem cells could be a viable source to treat rare Mendelian retinal degenerative diseases such as retinitis pigmentosa, Stargardt disease, and Best disease, to name a few.
Quality of Life Mutation Genetic Therapy Retinal Degeneration - genetics Humans Induced Pluripotent Stem Cells - transplantation Retinal Degeneration - therapy Cell- and Tissue-Based Therapy

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