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The genetics of intellectual disability: advancing technology and gene editing [version 1; peer review: 2 approved]

Ilyas, M; Mir, A; Efthymiou, S; Houlden, H; (2020) The genetics of intellectual disability: advancing technology and gene editing [version 1; peer review: 2 approved]. F1000Research , 9 , Article 22. 10.12688/f1000research.16315.1. Green open access

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Abstract

Intellectual disability (ID) is a neurodevelopmental condition affecting 1–3% of the world’s population. Genetic factors play a key role causing the congenital limitations in intellectual functioning and adaptive behavior. The heterogeneity of ID makes it more challenging for genetic and clinical diagnosis, but the advent of large-scale genome sequencing projects in a trio approach has proven very effective. However, many variants are still difficult to interpret. A combined approach of next-generation sequencing and functional, electrophysiological, and bioinformatics analysis has identified new ways to understand the causes of ID and help to interpret novel ID-causing genes. This approach offers new targets for ID therapy and increases the efficiency of ID diagnosis. The most recent functional advancements and new gene editing techniques involving the use of CRISPR–Cas9 allow for targeted editing of DNA in in vitro and more effective mammalian and human tissue-derived disease models. The expansion of genomic analysis of ID patients in diverse and ancient populations can reveal rare novel disease-causing genes.

Type: Article
Title: The genetics of intellectual disability: advancing technology and gene editing [version 1; peer review: 2 approved]
Open access status: An open access version is available from UCL Discovery
DOI: 10.12688/f1000research.16315.1
Publisher version: http://dx.doi.org/10.12688/f1000research.16315.1
Language: English
Additional information: © 2020 Ilyas M et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Intellectual Disability, Neurological Disorders, Gene Editing, Mental Retrdation, NGS, WES, CRISPR/Cas9
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10090160
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