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Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus

Allington, G; Duy, PQ; Ryou, J; Singh, A; Kiziltug, E; Robert, S; Kundishora, AJ; ... Jin, SC; + view all (2022) Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus. Journal of Neurosurgery: Pediatrics , 29 (2) pp. 168-177. 10.3171/2021.8.PEDS21368. Green open access

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Abstract

Congenital hydrocephalus (CH), characterized by incomplete clearance of CSF and subsequent enlargement of brain ventricles, is the most common congenital brain disorder. The lack of curative strategies for CH reflects a poor understanding of the underlying pathogenesis. Herein, the authors present an overview of recent findings in the pathogenesis of CH from human genetic studies and discuss the implications of these findings for treatment of CH. Findings from these omics data have the potential to reclassify CH according to a molecular nomenclature that may increase precision for genetic counseling, outcome prognostication, and treatment stratification. Beyond the immediate patient benefits, genomic data may also inform future clinical trials and catalyze the development of nonsurgical, molecularly targeted therapies. Therefore, the authors advocate for further application of genomic sequencing in clinical practice by the neurosurgical community as a diagnostic adjunct in the evaluation and management of patients diagnosed with CH.

Type: Article
Title: Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.3171/2021.8.PEDS21368
Publisher version: https://doi.org/10.3171/2021.8.PEDS21368
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Complex inheritance, congenital hydrocephalus, genomic medicine, genomics, neurodevelopmental disorders, whole-exome sequencing
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy > Pharma and Bio Chemistry
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > UCL School of Pharmacy
URI: https://discovery.ucl.ac.uk/id/eprint/10142959
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