Demystifying neuroscience laboratory techniques used to investigate single-gene disorders. (November 2020)

• Record Type: Journal Article
• Authors: Mizen, Lindsay A. M.; Stanfield, Andrew C.
• Editors: Cuttle, Gareth; Burn, Wendy
• Is Part Of: BJPsych advances. Volume 26:Number 6(2020)
• Page Start: 345
• Page End: 355
• Publication Date: 2020-11
• Subjects: Single-gene disorders, -- autism spectrum disorders, -- intellectual disability, -- neuroscience, -- SYNGAP1; Psychiatry -- Periodicals; 616.89005
• DOI: 10.1192/bja.2020.30
• Languages: English
• ISSNs: 2056-4678

Abstract

SUMMARY: There is considerable work being carried out in neuroscientific laboratories to delineate the mechanisms underlying single-gene disorders, particularly those related to intellectual disability and autism spectrum disorder. Many clinicians will have little if any direct experience of this type of work and so find the procedures and terminology difficult to understand. This article describes some of the laboratory techniques used and their increasing relevance to clinical practice. It is pitched for clinicians with little or no laboratory science background.