Practical Applications of Genetic Testing: Science and Advances of Genetic Testing

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Identifier 20230313_nanos_nogenetics1_02
Title Practical Applications of Genetic Testing: Science and Advances of Genetic Testing
Creator Neringa Jurkute, MD, FEBO
Affiliation Moorfields Eye Hospital NHS, Foundation Trust, London, UK
Subject Hereditary Conditions; Genetic Testing; Ophthalmic Genetic Disorders
Description This session will use a case-based format to discuss the practical genetic testing, indications, and strategies for specific ophthalmic genetic conditions in neuro-ophthalmology. The moderator will present cases followed by short scientific talks from experts in the field of ophthalmic genetics highlighting the practical and theoretic applications of modern genetic testing. Each case will end with a practical strategy from an experienced clinician in ophthalmic genetic disorders.
Date 2023-03
References 1. Akaishi T., Takeshita T., Himori N., Takahashi T., Misu T., Ogawa R., Kaneko K., et al. (2020) Rapid administration of high-dose intravenous methylprednisolone improves visual outcomes after optic neuritis in patients with AQP4-IgG-positive NMOSD. Frontiers in Neurology 11, 932. 2. Asseyer S., Hamblin J., Messina S., Mariano R., Siebert N., Everett R., Küker W., et al. (2020) Prodromal headache in MOG-antibody positive optic neuritis. Multiple Sclerosis and Related Disorders 40, 101965. 3. Balk L. J., Coric D., Knier B., Zimmermann H. G., Behbehani R., Alroughani R., Martinez-Lapiscina E. H., et al. (2019) Retinal inner nuclear layer volume reflects inflammatory disease activity in multiple sclerosis: A longitudinal OCT study. Multiple sclerosis journal - experimental, translational and clinical 5, 2055217319871582. 4. Balk L. J., Killestein J., Polman C. H., Uitdehaag B. M. J., Petzold A. (2012) Microcystic macular oedema confirmed, but not specific for multiple sclerosis. Brain 135, e226. 5. Barboni P., Carelli V., Savini G., Carbonelli M., La Morgia C., Sadun A. A. (2013) Microcystic macular degeneration from optic neuropathy: Not inflammatory, not trans-synaptic degeneration. Brain 136, e239.
Language eng
Format video/mp4
Type Image/MovingImage
Source 49th Annual North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2023: Neuro-Ophthalmic Genetics: When, How, In Whom, and Why to do Genetic Testing: https://novel.utah.edu/collection/NAM/toc/
Collection Neuro-Ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890
Rights Management Copyright 2023. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6q7saz7
Setname ehsl_novel_nam
ID 2385964
Reference URL https://collections.lib.utah.edu/ark:/87278/s6q7saz7
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