Genetic basis of inherited macular dystrophies and implications for stem cell therapy

Carla B Mellough, David H W Steel, Majlinda Lako

Research output: Contribution to journalReview article

8 Citations (Scopus)

Abstract

Untreatable hereditary macular dystrophy (HMD) presents a major burden to society in terms of the resulting patient disability and the cost to the healthcare provision system. HMD results in central vision loss in humans sufficiently severe for blind registration, and key issues in the development of therapeutic strategies to target these conditions are greater understanding of the causes of photoreceptor loss and the development of restorative procedures. More effective and precise analytical techniques coupled to the development of transgenic models of disease have led to a prolific growth in the identification and our understanding of the genetic mutations that underly HMD. Recent successes in driving differentiation of pluripotent cells towards specific somatic lineages have led to the development of more efficient protocols that can yield enriched populations of a desired phenotype. Retinal pigmented epithelial cells and photoreceptors derived from these are some of the most promising cells that may soon be used in the treatment of specific HMD, especially since rapid developments in the field of induced pluripotency have now set the stage for the production of patient-derived stem cells that overcome the ethical and methodological issues surrounding the use of embryonic derivatives. In this review we highlight a selection of HMD which appear suitable candidates for combinatorial restorative therapy, focusing specifically on where those photoreceptor loss occurs. This technology, along with increased genetic screening, opens up an entirely new pathway to restore vision in patients affected by HMD.

Original languageEnglish
Pages (from-to)2833-45
Number of pages13
JournalStem Cells
Volume27
Issue number11
DOIs
Publication statusPublished - Nov 2009
Externally publishedYes

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Macular Degeneration
Cell- and Tissue-Based Therapy
Stem Cells
Genetic Testing
Ethics
Cell Differentiation
Therapeutics
Epithelial Cells
Technology
Delivery of Health Care
Phenotype
Costs and Cost Analysis
Mutation
Growth
Population

Cite this

Mellough, Carla B ; Steel, David H W ; Lako, Majlinda. / Genetic basis of inherited macular dystrophies and implications for stem cell therapy. In: Stem Cells. 2009 ; Vol. 27, No. 11. pp. 2833-45.
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abstract = "Untreatable hereditary macular dystrophy (HMD) presents a major burden to society in terms of the resulting patient disability and the cost to the healthcare provision system. HMD results in central vision loss in humans sufficiently severe for blind registration, and key issues in the development of therapeutic strategies to target these conditions are greater understanding of the causes of photoreceptor loss and the development of restorative procedures. More effective and precise analytical techniques coupled to the development of transgenic models of disease have led to a prolific growth in the identification and our understanding of the genetic mutations that underly HMD. Recent successes in driving differentiation of pluripotent cells towards specific somatic lineages have led to the development of more efficient protocols that can yield enriched populations of a desired phenotype. Retinal pigmented epithelial cells and photoreceptors derived from these are some of the most promising cells that may soon be used in the treatment of specific HMD, especially since rapid developments in the field of induced pluripotency have now set the stage for the production of patient-derived stem cells that overcome the ethical and methodological issues surrounding the use of embryonic derivatives. In this review we highlight a selection of HMD which appear suitable candidates for combinatorial restorative therapy, focusing specifically on where those photoreceptor loss occurs. This technology, along with increased genetic screening, opens up an entirely new pathway to restore vision in patients affected by HMD.",
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Genetic basis of inherited macular dystrophies and implications for stem cell therapy. / Mellough, Carla B; Steel, David H W; Lako, Majlinda.

In: Stem Cells, Vol. 27, No. 11, 11.2009, p. 2833-45.

Research output: Contribution to journalReview article

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T1 - Genetic basis of inherited macular dystrophies and implications for stem cell therapy

AU - Mellough, Carla B

AU - Steel, David H W

AU - Lako, Majlinda

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AB - Untreatable hereditary macular dystrophy (HMD) presents a major burden to society in terms of the resulting patient disability and the cost to the healthcare provision system. HMD results in central vision loss in humans sufficiently severe for blind registration, and key issues in the development of therapeutic strategies to target these conditions are greater understanding of the causes of photoreceptor loss and the development of restorative procedures. More effective and precise analytical techniques coupled to the development of transgenic models of disease have led to a prolific growth in the identification and our understanding of the genetic mutations that underly HMD. Recent successes in driving differentiation of pluripotent cells towards specific somatic lineages have led to the development of more efficient protocols that can yield enriched populations of a desired phenotype. Retinal pigmented epithelial cells and photoreceptors derived from these are some of the most promising cells that may soon be used in the treatment of specific HMD, especially since rapid developments in the field of induced pluripotency have now set the stage for the production of patient-derived stem cells that overcome the ethical and methodological issues surrounding the use of embryonic derivatives. In this review we highlight a selection of HMD which appear suitable candidates for combinatorial restorative therapy, focusing specifically on where those photoreceptor loss occurs. This technology, along with increased genetic screening, opens up an entirely new pathway to restore vision in patients affected by HMD.

KW - Animals

KW - Cell- and Tissue-Based Therapy

KW - Genetic Therapy

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KW - Macular Degeneration

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KW - Stem Cell Transplantation

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KW - Review

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