PhD studentship: Causes of heart dysfunction in Batten disease


The Open University, School of Life, Health and Chemical Sciences, Milton Keynes
Closing date: 
03 March 2017
Katja Rietdorf

Project highlights:

•           Clinically-relevant research project

•           Novel characterisation of a human disease

•           Multiple technique approach


Batten disease (also known as ‘CLN3’ or ‘juvenile dementia’) is a lysosomal storage disorder, leading to patients’ early death. Initial symptoms are loss of sight and motor functions, followed by cardiac dysfunction, which is fatal. As yet, the cause of cardiac dysfunction during Batten disease is unknown, and there are no available therapeutic interventions.

We hypothesise that expression of a mutant protein (CLN3) in cardiac myocytes within the heart leads to abnormal lysosomal function, which subsequently causes the myocytes to have ultrastructural and signalling alterations. This project will explore this hypothesis using cardiac myocytes from CLN3 knockout mice, as well as cardiac myocytes differentiated from induced pluripotent stem cells obtained from Batten disease patients and healthy donors. 

Techniques will include fluorescence and light microscopy to measure, for example, excitation-contraction coupling, calcium homeostasis and lysosomal processing, and a combination of immunofluorescence and electron microscopy to assess ultrastructural changes in cardiac cells.

Further information

This project is fully funded for 3 years (with tuition fees covered for UK/EU applicants) and provides a stipend of £14,553 per year. Applicants will be expected to have a degree(classification 2:1, or higher) in cell biology, biochemistry, pharmacology or a relevant subject. Good numeracy, ICT, communication and organisation skills are highly desirable. Further details about the project are available at

How to Apply

Please send an email with your CV, a completed application form and a personal statement (outlining your suitability for the studentship, what you hope to achieve from the PhD and your research experience to date) to