Genetic Testing for Inherited Retinal Disease.
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TLDR
The report by Stone et al in this issue (available at www.aaojournal.org/article/S0161-6420(17)30460-8/fulltext;) is a timely reminder of the revolution under way in molecular genetic testing for inherited retinal disease (IRD).About:
This article is published in Ophthalmology.The article was published on 2017-09-01 and is currently open access. It has received 19 citations till now. The article focuses on the topics: Genetic testing.read more
Citations
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Journal ArticleDOI
Optogenetic approaches to vision restoration.
Matthew P. Simunovic,Weiyong Shen,John Y. Lin,Dario A. Protti,Leszek Lisowski,Mark C Gillies +5 more
TL;DR: Pre‐clinical trials of optogenetic approaches in animal models suggest that the technique may restore vision in previously blind animals, with the threshold for activation being within 1‐2 log units of the thresholds for cone activation.
Journal ArticleDOI
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium
Debra A. Thompson,Alessandro Iannaccone,Robin R. Ali,Robin R. Ali,Vadim Y. Arshavsky,Isabelle Audo,Isabelle Audo,James W B Bainbridge,Cagri G. Besirli,David G. Birch,Kari Branham,Artur V. Cideciyan,S.P. Daiger,Deniz Dalkara,Jacque L. Duncan,Abigail T. Fahim,John G. Flannery,Roberto Gattegna,John R. Heckenlively,Elise Heon,K. Thiran Jayasundera,Naheed W. Khan,Henry Klassen,Bart P. Leroy,Bart P. Leroy,Robert S. Molday,David C. Musch,Mark E. Pennesi,Simon M. Petersen-Jones,Eric A. Pierce,Rajesh C. Rao,Thomas A. Reh,José Sahel,Dror Sharon,Paul A. Sieving,Paul A. Sieving,Enrica Strettoi,Paul Yang,David N. Zacks +38 more
TL;DR: This position paper reviews recent accomplishments and existing challenges in clinical trials for IRDs and presents a set of recommendations aimed at rapidly advancing future progress, to stimulate discussions among researchers, funding agencies, industry, and policy makers that will further the design, conduct, and analysis of clinical trials needed to accelerate the approval of effective treatments forIRDs.
Journal ArticleDOI
The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective.
Orla Galvin,Gloria Chi,Laura Brady,Claire Hippert,Marta del Valle Rubido,Avril Daly,Michel Michaelides,Michel Michaelides +7 more
TL;DR: It is revealed that IRD patients do not frequently engage the healthcare system and as such suggests a cost-of-illness model from a societal perspective may be a better format, which would support value for money to regulatory bodies for treatments approved, and progressing through clinical trials.
Journal ArticleDOI
Inherited retinal disorders: using evidence as a driver for implementation
TL;DR: Some of the current obstacles to implementation of clinical genetic interventions are summarized and approaches to overcome these barriers are discussed.
Journal ArticleDOI
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Ahra Cho,Ahra Cho,Jose Ronaldo Lima de Carvalho,Akemi J. Tanaka,Ruben Jauregui,Ruben Jauregui,Ruben Jauregui,Sarah R. Levi,Sarah R. Levi,Alexander G. Bassuk,Vinit B. Mahajan,Vinit B. Mahajan,Stephen H. Tsang,Stephen H. Tsang,Stephen H. Tsang +14 more
TL;DR: Negative WES analyses inconsistent with the phenotype should raise clinical suspicion, and subsequent genetic testing may detect genetic variants missed by WES and can make patients eligible for gene replacement therapy and upcoming clinical trials.
References
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Journal ArticleDOI
What is next generation sequencing
Sam Behjati,Patrick S. Tarpey +1 more
TL;DR: The aim of this article is to review the potential applications of NGS in paediatrics and to assess the need for further research into this area.
Journal ArticleDOI
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
Edwin M. Stone,Edwin M. Stone,Jeaneen L. Andorf,Jeaneen L. Andorf,S. Scott Whitmore,S. Scott Whitmore,Adam P. DeLuca,Adam P. DeLuca,Joseph C. Giacalone,Joseph C. Giacalone,Luan M. Streb,Luan M. Streb,Terry A. Braun,Terry A. Braun,Robert F. Mullins,Robert F. Mullins,Todd E. Scheetz,Todd E. Scheetz,Val C. Sheffield,Budd A. Tucker,Budd A. Tucker +20 more
TL;DR: A clinically directed tiered testing strategy can increase sensitivity and improve statistical significance without increasing cost and genetic testing for inherited retinal disease is now more than 75% sensitive.
Journal ArticleDOI
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing.
Edwin M. Stone,Anthony J. Aldave,Arlene V. Drack,Mathew W. MacCumber,Val C. Sheffield,Elias I. Traboulsi,Richard G. Weleber +6 more
TL;DR: K skilled counseling should be provided to all individuals who undergo genetic testing to maximize the benefits and minimize the risks associated with each test.
Journal ArticleDOI
Molecular findings from 537 individuals with inherited retinal disease
Jamie M Ellingford,Jamie M Ellingford,Stephanie Barton,Sanjeev S. Bhaskar,James O'Sullivan,James O'Sullivan,Simon G. Williams,Janine A. Lamb,Binay Panda,Panagiotis I. Sergouniotis,Panagiotis I. Sergouniotis,Rachel L. Gillespie,Rachel L. Gillespie,Stephen P. Daiger,Georgina Hall,Theodora Gale,I. Christopher Lloyd,I. Christopher Lloyd,Paul N. Bishop,Paul N. Bishop,Simon C Ramsden,Graeme C.M. Black,Graeme C.M. Black +22 more
TL;DR: It is shown that clinically analysed variants indicated as rare in dbSNP and the Exome Variant Server remain rare in ExAC, and that genes discovered as a cause of IRD in the post-NGS era are rare causes ofIRD in a population of clinically surveyed individuals.
Journal ArticleDOI
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
Jamie M Ellingford,Stephanie Barton,Sanjeev S. Bhaskar,Simon G. Williams,Panagiotis I. Sergouniotis,James O'Sullivan,James O'Sullivan,Janine A. Lamb,Rahat Perveen,Rahat Perveen,Georgina Hall,William G. Newman,William G. Newman,Paul N. Bishop,Stephen A Roberts,Rick Leach,Rick Tearle,Stuart Bayliss,Simon C Ramsden,Andrea H. Németh,Graeme C.M. Black,Graeme C.M. Black +21 more
TL;DR: It is shown that WGS methods can detect disease-causing genetic variants missed by current NGS diagnostic methodologies for IRD and thereby demonstrate the clinical utility and additional value of WGS.
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