Research Fellow in School of Clinical Neurosciences The University of Edinburgh - School of Clinical Neurosciences United Kingdom

A Post-Doctoral level position is available for an ambitious and talented scientist to study molecular mechanisms underlining autism spectrum disorders (ASDs) and intellectual disabilities (IDs). SynGAP1 is a Synaptic GTPase Activating Protein, one of the most abundant components of the postsynaptic density, and plays critical roles to control synaptic plasticity and various behaviours.  SynGAP1 mutations have been found in ASD and ID patients at unusually high frequency but a precise mechanism that causes these symptoms is not yet understood.

To evaluate and develop potential therapeutic strategies we are going to study the nature of a SynGAP1 missense mutation found in a human patient.

The aim of this project, supported by Simons Initiative for Developing Brain (SIDB) and a SynGAP1 patients’ organisation (Leon and Friends), is to perform characterisation of this missense mutation in order to develop future therapeutic strategies.

A major responsibility of the post will be to design and execute experiments to characterise biological effects caused by this genetic mutation in the SynGAP1 gene. Core elements of the research will be molecular biology, cell biology, in vitro biochemical analysis, detailed florescent imaging with confocal microscopy and creation of an animal model using a genome editing method.

The applicant must have extensive experience in molecular biology, cell biology (including use of primary neuronal cultures), biochemistry and florescent imaging along with a strong interest in the fundamental molecular mechanisms underlining these brain disorders. Experiences in production and phenotypic analysis of genetically modified mice and/or in use of CRISPR/Cas 9 genome editing systems will be advantageous.

For informal enquiries please contact Emma Sigfridsson,  emma.sigfridsson@ed.ac.uk

This post is available on a fixed term basis for 24 months


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