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
