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
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.
Relation is Part of NANOS Annual Meeting 2020: Scientific Platform Session III
Contributor Primary Neringa Jurkute, MD, FEBO
Contributor Secondary Gavin Arno, Amy Slater, Nikolas Pontikos, Marcela Votruba, Savita Nutan, Andrew Webster, Patrick Yu-Wai-Man
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2020-03
Format video/mp4
Source 2020 North American Neuro-Ophthalmology Society Annual Meeting
Rights Management Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s60p69jk
Setname ehsl_novel_nam
Date Created 2020-04-29
Date Modified 2020-05-20
ID 1544738
Reference URL https://collections.lib.utah.edu/ark:/87278/s60p69jk