UCL School of Pharmacy

Further Information

Student & Academic Support Office
UCL School of Pharmacy
29/39 Brunswick Square
London WC1N 1AX
United Kingdom
Tel:+44 (0) 207 753 5831

Next-generation sequencing in inhibitory synaptic disorders

Lead Supervisor: Professor Robert J Harvey (UCL School of Pharmacy)

Industrial Collaborator: Center for Genomics and Transcriptomics (CeGaT) GmbH

Project Description:

Defects in human glycinergic neurotransmission result in startle disease or hyperekplexia. This neurological disorder affects newborn children and is characterised by noise- or touch-induced seizures, which result in muscle stiffness and neonatal apnoea episodes. Although rare, this disorder can have serious consequences, including brain damage and/or sudden infant death. Ongoing work confirms that the major cause of this disorder is mutations in the postsynaptic glycine receptor (GlyR) α1 subunit gene (GLRA1), with a minor number of mutations found in the GlyR β subunit gene (GLRB). Although mutations in SLC6A5, encoding the presynaptic glycine transporter GlyT2,are a second major cause of this disorder (Carta et al 2012) several indviduals do not have mutations in any of these genes.This project aims to identify rare sequence variants associated with startle disease/hyperekplexia, epilepsy and neuromuscular disorders, using array CGH and exome sequencing approaches (Lemke et al 2012). We will also develop custom functional assays to directly test the pathogenicity of rare sequence variants in cellular assays, e.g. for ion-channel trafficking/function.


1. Carta et al 2012, Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. J Biol Chem, in press.

2. Lemke et al (2012) Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia, in press.


A first or upper second class honours degree in biology, biochemistry, genetics or neuroscience with a preference for postgraduate experience of molecular biology/genetics / bioinformatics.

This studentship is only open to students with Home and EU fee status.

Main Methods and Technologies to be employed

The student will have the unique opportunity to receive training in next-generation sequencing, bioinformatics and structure-function assays. The studentship is a joint project between Professor Harvey's laboratory in the Department of Pharmacology at the UCL School of Pharmacy and the Center for Genomics and Transcriptomics (CeGaT: http://www.cegat.de/) in Tübingen, Germany. CeGaT is a world-leader in the use of next-generation sequencing methods in clinical applications, using Applied Biosystems SOLiD 5500xl and Life Technologies Ion Torrent personal genome analyzer instruments - the most accurate and high-throughput sequencing platforms available.

Further details about the project may be obtained from:

Lead Supervisor: 

Professor Robert J Harvey

Tel: (44) 207 753 5930


Further information

UCL School of Pharmacy
University of London
29/39 Brunswick Square
London WC1N 1AX
United Kingdom

Tel: +44 (0) 207 5831

Please submit the following supporting documents with your application form:

Transcripts: University examination transcripts and, if available, a copy of your degree certificate. Photocopies and/or certified translations accepted in the first instance.

English language: if your first language is not English, please provide evidence of English Language proficiency.

Preferred start date

1st October 2012

Page last modified on 23 jul 12 16:42