Demystifying neuroscience laboratory techniques used to investigate single-gene disorders

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.