Katie Cunnea

profilephoto

Katie is an Electron Microscopy Scientist responsible for eBIC's training programme.

Email: katie.cunnea@diamond.ac.uk
Tel: +44 (0) 1235 77 8234

Techniques and Disciplines

Research Area

Cryo-EM

  1. General
  2. Research
General -

Electron Microscope Scientist, Training

Katie is responsible for eBIC's training programme.  This includes coordinating and delivering training and organising courses and workshops.

Katie joined eBIC in 2017.  As well as having a background in Electron Microscopy, Katie also has experience working in educational publishing as a writer, editor and project manager.

 

Research - +

I am currently using cryoEM with single particle analysis to determine the structure of an ubiquitin ligase, called UBE3A, and its binding partners.  UBE3A has an important functional role in the nucleus of neurons.  Lack of expression of UBE3A in the brain results in a condition called Angelman Syndrome.  Angelman syndrome affects approximately 1:15,000 births and results in a complex phenotype, including severe intellectual impairment, motor skills difficulties and no speech (or very impaired speech).

UBE3A is paternally imprinted with loss of function of the maternal gene resulting in Angelman syndrome.  Expression of UBE3A is tightly regulated, with over expression being linked to Autism spectrum disorders. 

Multiple laboratories and companies are working towards potential therapeutics for Angelman Syndrome, including gene therapy and unsilencing of the paternal copy of the gene.  Determining the active, full length structure of UBE3A as well as commonly found inactive forms will provide invaluable insight into how expression and activation of UBE3A is regulated.  This will provide a valuable piece of the puzzle towards developing therapeutics to treat the condition.  

This project is a collaboration with David Scott & Robert Layfield (Nottingham University) and Stephen Carr (Oxford University).  It is funded by the MRC and sponsors a PhD student (Emma Cowan).

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