Photo of Stephen C Harmer

Dr Stephen C Harmer

BSc(R'dg), PhD

  • BS8 1TD

20042020

Research output per year

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Personal profile

Research interests

The aim of our research is to understand the causes of inherited cardiac arrhythmias (abnormal heart rhythms) such as the long QT syndrome. We use cellular model systems and a combination of electrophysiological, biochemical and computational approaches to investigate how inherited mutations in cardiac ion channels act to increase the risk of sudden cardiac death.  

Our research is currently focussed on three lines of study:

Ion channel trafficking- Most mutations in KCNQ1 and KCNH2 cause the long QT syndrome (LQTS) by disrupting ion channel trafficking. We aim to better understand the molecular mechanisms that underlie why inherited mutations lead to defects in processing. This line of study includes a collaboration with Professor Jules Hancox (University of Bristol).

Improved cellular models of arrhythmia- Induced pluripotent stem cell (iPSC) technology enables the generation of patient-specific ‘heart-in-a dish’ models of arrhythmia. However, a limitation of this technology is that the cardiomyocytes produced have an immature phenotype. In collaboration with Professor Chris Denning (University of Nottingham) we are investigating approaches to mature the phenotype of these cells and therefore enhance the translatability of this exciting technology.

Therapeutic approaches- In collaboration with Professor David Sheppard (University of Bristol) we aim to develop approaches that rescue the function of mutant ion channel complexes. By targeting the underlying molecular defects we hope to reduce the risk of sudden death in patients with inherited cardiac arrhythmias.

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Research Output

  • 21 Article (Academic Journal)
  • 5 Review article (Academic Journal)
Open Access
File
  • 39 Downloads (Pure)

    Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function

    Cartwright, J. H., Aziz, Q., Harmer, S. C., Thayyil, S., Tinker, A. & Munroe, P. B., 19 Aug 2019, In : Human Molecular Genetics.

    Research output: Contribution to journalArticle (Academic Journal)

    Open Access
    File
  • 108 Downloads (Pure)

    Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D

    Zhou, X., Bueno-Orovio, A., Schilling, R., Kirkby, C., Denning, C., Rajamohan, D., Burrage, K., Tinker, A., Rodriguez, B. & Harmer, S., 18 Mar 2019, In : Frontiers in Physiology. 10, 259, 14 p., 259.

    Research output: Contribution to journalArticle (Academic Journal)

    Open Access
    File
  • 3 Citations (Scopus)
    259 Downloads (Pure)