The 100,000 Genomes Project - Uncovering Pathogenic Variants in Inherited Optic Neuropathies with Whole-Genome Sequencing (Video)

Update Item Information
Identifier 20200310_nanos_sciplatform3_02
Title The 100,000 Genomes Project - Uncovering Pathogenic Variants in Inherited Optic Neuropathies with Whole-Genome Sequencing (Video)
Creator Neringa Jurkute; Gavin Arno; Amy Slater; Nikolas Pontikos; Marcela Votruba; Savita Nutan; Andrew Webster; Patrick Yu-Wai-Man
Affiliation (NJ) NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL IoO, London, United Kingdom of Great Britain and Northern Ireland; (GA) (NP) (AW) Moorfields Eye Hospital and UCL IoO, London, United Kingdom of Great Britain and Northern Ireland; (AS) Royal Brompton and Harefield NHS Foundation Trust, London, United Kingdom of Great Britain and Northern Ireland; (MV) School of Optometry and VisionSciences, Cardiff University, Cardiff, United Kingdom of Great Britain and Northern Ireland; (SN) Great Ormond Street Hospital, London, United Kingdom of Great Britain and Northern Ireland; (PYWM) Moorfields Eye Hospital, UCLIoO, University of Cambridge, Cambridge, United Kingdom of Great Britain and Northern Ireland
Subject Genetic Disease; Optic Neuropathy
Description Inherited optic neuropathies (ION) are a genetically heterogeneous group of disorders characterised by progressive and irreversible loss of retinal ganglion cells. Reaching a confirmed molecular diagnosis can be challenging given the number of disease-associated genes that have been identified within both the nuclear and mitochondrial genomes. In addition, routine genetic testing will also not identify novel causes of optic atrophy. In this study, we applied whole-genome sequencing (WGS) to investigate a cohort of patients with a clinical diagnosis of ION.
Date 2020-03
Language eng
Format video/mp4
Type Image/MovingImage
Source 2020 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2020: Scientific Platform Session III
Collection Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s60p69jk
Setname ehsl_novel_nam
ID 1544738
Reference URL https://collections.lib.utah.edu/ark:/87278/s60p69jk
Back to Search Results