Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

Wiley, Luke A; Burnight, Erin R; Songstad, Allison E.; Drack, Arlene V.; Mullins, Robert F.; Stone, Edwin M.; Tucker, Budd A.

doi:10.1016/j.preteyeres.2014.10.002

Cited by 96 publications

(54 citation statements)

References 202 publications

(246 reference statements)

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“…Moreover, the vast heterogeneity in RP poses a challenge both to the development of therapeutic strategies and to our understanding of the underlying mechanisms and pathophysiology of the disease [3]. Currently, over 3000 different disease alleles spread across > 60 different genes and with variable inheritance patterns are associated with classical forms of RP limited to photoreceptor degenerations only; another 40 genes are associated with various forms of syndromic RP, where vision loss is accompanied by extraocular symptoms, and still others harbor mutations that cause degeneration of the retinal pigment epithelium (RPE) [4,5].…”

Section: Introductionmentioning

confidence: 99%

Personalized therapeutic strategies for patients with retinitis pigmentosa

Zheng

Tsang

2015

Expert Opinion on Biological Therapy

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Introduction Retinitis pigmentosa (RP) encompasses many different hereditary retinal degenerations that are caused by a vast array of different gene mutations and have highly variable disease presentations and severities. This heterogeneity poses a significant therapeutic challenge, although an answer may eventually be found through two recent innovations: induced pluripotent stem cells (iPSCs) and clustered regularly interspaced short palindromic repeats (CRISPR)/Cas genome editing. Areas covered This review discusses the wide-ranging applications of iPSCs and CRISPR–including disease modelling, diagnostics and therapeutics – with an ultimate view towards understanding how these two technologies can come together to address disease heterogeneity and orphan genes in a novel personalized medicine platform. An extensive literature search was conducted in PubMed and Google Scholar, with a particular focus on high-impact research published within the last 1 – 2 years and centered broadly on the subjects of retinal gene therapy, iPSC-derived outer retina cells, stem cell transplantation and CRISPR/Cas gene editing. Expert opinion For the retinal pigment epithelium, autologous transplantation of gene-corrected grafts derived from iPSCs may well be technically feasible in the near future. Photoreceptor transplantation faces more significant unresolved technical challenges but remains an achievable, if more distant, goal given the rapid pace of advancements in the field.

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Section: Introductionmentioning

confidence: 99%

Personalized therapeutic strategies for patients with retinitis pigmentosa

Zheng

Tsang

2015

Expert Opinion on Biological Therapy

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“…Therefore, other more generic therapeutic strategies must be further developed that are independent of the specific genetic defect, such as optogenetics 65 and stem cell therapy. 66 …”

Section: Lca -Past Present and Futurementioning

confidence: 99%

Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration

Hollander

2016

Invest. Ophthalmol. Vis. Sci.

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Citation: den Hollander AI. Omics in ophthalmology: advances in genomics and precision medicine for Leber congenital amaurosis and age-related macular degeneration. Invest Ophthalmol Vis Sci. 2016;57:1378-1387.The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples are discussed here. The first is Leber congenital amaurosis (LCA), a severe inherited retinal dystrophy leading to severe vision loss in children, and the second is age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. Twenty years ago, the genetic causes of these diseases were unknown. Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases. Genespecific treatments have entered the clinical trial phase for three LCA genes, and for seven LCA genes gene-specific therapies have been tested in model systems. Age-related macular degeneration is a multifactorial disease caused by a combination of genetic and environmental factors. Currently, more than 40 loci have been identified for AMD, accounting for 15%-65% of the total genetic contribution to AMD. Despite the progress that has been made so far, genetic testing is not yet recommended for AMD, but this may change if we move to clinical trials or treatments that are dependent on an individual's genotype. The identification of serum or plasma biomarkers using other ''-omics'' technologies may further improve predictive tests and our understanding of the disease mechanisms of AMD. Ultimately, it is anticipated that predictive tests will help to stratify patients for the most suitable therapy, which will enable the development of precision medicine, tailored to individual needs.

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“…In recent years, significant advances have been made by iPS cell technology in the research of inherited monogenic diseases, opening an avenue to generate patient-specific pluripotent stem cells. iPS cell technology has a broad application in blood disorders, neurodegenerative diseases, and retinal degenerative diseases, but little is known about its application in hereditary hearing loss (Wang et al, 2012;Peng et al, 2014;Ross and Akimov, 2014;Wiley et al, 2015).…”

Section: Primary Utilization Sites For Ips Cellsmentioning

confidence: 99%

Pluripotent stem cells and their use in hearing loss

Kepekçi¹,

Özturan²,

Köker³

2016

Turk J Biol

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Throughout its half a century of development, stem cell research has included two main fields: embryonic stem (ES) cell research and the reprogramming of body somatic cells. In the present review we focused on stem cell reprogramming and its relation with otolaryngology. The human body somatic cells are transformed into pluripotent cells by three basic methods: the somatic nuclear transfer method, the somatic cell fusion method (getting cellular pluripotent capacity in cellular reprogramming), and by transcription factors influencing the body somatic cells to generate reprogrammed induced pluripotent stem (iPS) cells. ES cells and iPS cells have pluripotency and differentiate into cells originating from the three germ layers; they are preferred for cellular treatment, drug development, and disease modeling research. Because of ethical restrictions in obtaining ES cells, iPS cells are an alternative pluripotent cell source and patient-specific autologous pluripotent cells are obtained by this method. Cellular treatment and regenerative medicine with pluripotent cells are currently developing and we aimed to raise awareness about this topic in our paper on using iPS cell technology in the biological treatment of hearing loss, which is an important area of research in otolaryngology.

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Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

Cited by 96 publications

References 202 publications

Personalized therapeutic strategies for patients with retinitis pigmentosa

Personalized therapeutic strategies for patients with retinitis pigmentosa

Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration

Pluripotent stem cells and their use in hearing loss

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