A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies

J. A. Thompson; J. N. De Roach; T. L. McLaren; T. M. Lamey

doi:10.1007/978-3-319-75402-4_32

A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies

J. A. Thompson, J. N. De Roach, T. L. McLaren, T. M. Lamey

Centre for Ophthalmology and Visual Science (affiliated with the Lions Eye Institute)

Research output: Chapter in Book/Conference paper › Conference paper › peer-review

7 Citations (Scopus)

Abstract

Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes. A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs. Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.

Original language	English
Title of host publication	Retinal Degenerative Diseases
Subtitle of host publication	Mechanisms and Experimental Therapy
Editors	Johnn Ash, Robert Anderson, Matthew LaVail, Catherine Rickman, Joe Hollyfield, Christian Grimm
Place of Publication	Netherlands
Publisher	Springer
Pages	265-271
Number of pages	7
ISBN (Electronic)	9783319754024
ISBN (Print)	9783319754017
DOIs	https://doi.org/10.1007/978-3-319-75402-4_32
Publication status	Published - 1 Jan 2018
Event	XVII International Symposium on Retinal Degeneration - Kyoto, Japan Duration: 19 Sept 2016 → 24 Sept 2016

Publication series

Name	Advances in Experimental Medicine and Biology
Volume	1074
ISSN (Print)	0065-2598
ISSN (Electronic)	2214-8019

Conference

Conference	XVII International Symposium on Retinal Degeneration
Country/Territory	Japan
City	Kyoto
Period	19/09/16 → 24/09/16

Access to Document

10.1007/978-3-319-75402-4_32

Cite this

Thompson, J. A., De Roach, J. N., McLaren, T. L., & Lamey, T. M. (2018). A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies. In J. Ash, R. Anderson, M. LaVail, C. Rickman, J. Hollyfield, & C. Grimm (Eds.), Retinal Degenerative Diseases: Mechanisms and Experimental Therapy (pp. 265-271). (Advances in Experimental Medicine and Biology; Vol. 1074). Springer. https://doi.org/10.1007/978-3-319-75402-4_32

Thompson, J. A. ; De Roach, J. N. ; McLaren, T. L. et al. / A mini-review : Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies. Retinal Degenerative Diseases: Mechanisms and Experimental Therapy. editor / Johnn Ash ; Robert Anderson ; Matthew LaVail ; Catherine Rickman ; Joe Hollyfield ; Christian Grimm. Netherlands : Springer, 2018. pp. 265-271 (Advances in Experimental Medicine and Biology).

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title = "A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies",

abstract = "Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes. A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs. Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.",

keywords = "Genetic variants, Inherited retinal dystrophies, Leber congenital amaurosis, Next-generation sequencing, Personalised therapies, Registry, Retinal disease",

author = "Thompson, {J. A.} and {De Roach}, {J. N.} and McLaren, {T. L.} and Lamey, {T. M.}",

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Thompson, JA, De Roach, JN, McLaren, TL & Lamey, TM 2018, A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies. in J Ash, R Anderson, M LaVail, C Rickman, J Hollyfield & C Grimm (eds), Retinal Degenerative Diseases: Mechanisms and Experimental Therapy. Advances in Experimental Medicine and Biology, vol. 1074, Springer, Netherlands, pp. 265-271, XVII International Symposium on Retinal Degeneration, Kyoto, Japan, 19/09/16. https://doi.org/10.1007/978-3-319-75402-4_32

A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies. / Thompson, J. A.; De Roach, J. N.; McLaren, T. L. et al.
Retinal Degenerative Diseases: Mechanisms and Experimental Therapy. ed. / Johnn Ash; Robert Anderson; Matthew LaVail; Catherine Rickman; Joe Hollyfield; Christian Grimm. Netherlands: Springer, 2018. p. 265-271 (Advances in Experimental Medicine and Biology; Vol. 1074).

Research output: Chapter in Book/Conference paper › Conference paper › peer-review

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AU - De Roach, J. N.

AU - McLaren, T. L.

AU - Lamey, T. M.

PY - 2018/1/1

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N2 - Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes. A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs. Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.

AB - Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes. A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs. Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.

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BT - Retinal Degenerative Diseases

A2 - Ash, Johnn

A2 - Anderson, Robert

A2 - LaVail, Matthew

A2 - Rickman, Catherine

A2 - Hollyfield, Joe

A2 - Grimm, Christian

PB - Springer

CY - Netherlands

Y2 - 19 September 2016 through 24 September 2016

ER -

Thompson JA, De Roach JN, McLaren TL, Lamey TM. A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies. In Ash J, Anderson R, LaVail M, Rickman C, Hollyfield J, Grimm C, editors, Retinal Degenerative Diseases: Mechanisms and Experimental Therapy. Netherlands: Springer. 2018. p. 265-271. (Advances in Experimental Medicine and Biology). doi: 10.1007/978-3-319-75402-4_32

A mini-review: Leber congenital amaurosis: Identification of disease-causing variants and personalised therapies

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