Edinburgh Research Explorer

Demystifying neuroscience laboratory techniques used to investigate single-gene disorders

Research output: Contribution to journalComment/debate


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.

    Research areas

  • Single-gene disorders, Neuroscience, Intellectual Disability, autism spectrum disorder, SYNGAP1

ID: 153136142