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Master Thesis

Intérêt et apport du Whole Exome Sequencing (WES) et de la place du neurogénéticien dans le diagnostic et la prise en charge des maladies neurogénétiques de l’adulte

Abstract : Since 2005, with these 3 rare diseases national strategies, France tends to build his rare diseases care politic. Their goal is to support the apparition of new technologies for the next generation sequencing, particularly in adult neurogenetics diseases. In this study, we analyzed a cohort of 73 WES realized between January 2016 and June 2021 in the national neurogenetics center of the university hospital of Angers. The general diagnostic yield is 42,47%. The yield for syndromic epilepsy is 40%, for peripherical neuropathy is 40%, for dystonia is 40%, for leukodystrophy is 16,67%, for neurodegenerative diseases before 55 yo is 50%, for hereditary ataxias is 41,38%, for spastic paraparesis is 75%, for neurosensorial diseases is 25% and for myopathy is 100% (1 only patient). The yield of trio WES (47,83%) was much higher (p=0,008) than the simplex WES (15,38%). Segregation strategies are enabled to conclude in high rate specifically for biallelic pathogenic variations (p=0,03). The length of the entire WES procedure can be very long, with an average of 588,42 days. However, there is an important heterogenicity, with a minimal length of 151 days. The neurogeneticist practitioner in an adult neurology unit can reduce this length of 64,66% (p=6.179e-8). Trio WES in adult neurogenetics diseases, associated to a dedicated neurogenetic practice, is an effective diagnostic strategy. He has a complementary role with the very high debit sequencing strategy recently developed in France with the national genomic care plan 2025. Together, we hope that they will reduce the diagnostic delay and succeed the entering for the adult neurogenetics diseases in the precision medicine area, to the gaze of the actual context of emerging genic therapies.
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https://dumas.ccsd.cnrs.fr/dumas-03559910
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Submitted on : Monday, February 7, 2022 - 11:28:37 AM
Last modification on : Thursday, March 17, 2022 - 3:25:01 AM
Long-term archiving on: : Sunday, May 8, 2022 - 6:32:28 PM

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  • HAL Id : dumas-03559910, version 1

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Sacha Weber. Intérêt et apport du Whole Exome Sequencing (WES) et de la place du neurogénéticien dans le diagnostic et la prise en charge des maladies neurogénétiques de l’adulte. Médecine humaine et pathologie. 2021. ⟨dumas-03559910⟩

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