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Cold Spring Harb Perspect Med. 2014 Dec 11;5(5):a017160. doi: 10.1101/cshperspect.a017160.

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

Author information

1
Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242.
2
Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242 Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242.

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.

PMID:
25502747
PMCID:
PMC4448588
DOI:
10.1101/cshperspect.a017160
[Indexed for MEDLINE]
Free PMC Article

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