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Dr S Loughna, Prof J D Brook
Applications accepted all year round
Self-Funded PhD Students Only
About the Project
Our research aim is to understand how the heart develops and then how it goes wrong to give rise to congenital heart defects (CHDs). CHDs affect approximately 0.8% of live births, and are the most common defects in new-born babies. We currently have transgenic mouse lines in-house, carrying a humanised mutation for a gene of interest. The techniques we use are molecular, cellular and developmental biology techniques, such as mouse handling, genotyping, embryo dissection, HREM for 2D and 3D phenotypic analysis, qPCR/RT-PCR, RNA-seq, cloning, in situ hybridisation, western analysis, proteomics, cell culture and immunofluorescence.
References
Sifrim et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016 Sep;48(9):1060-5. doi: 10.1038/ng.3627. Epub 2016 Aug 1. PMID: 27479907; PMCID: PMC5988037.
England et al. Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. J Mol Cell Cardiol. 2017 May;106:1-13. doi: 10.1016/j.yjmcc.2017.03.006. Epub 2017 Mar 27. PMID: 28359939; PMCID: PMC5441184.
Weninger et al. Visualising the Cardiovascular System of Embryos of Biomedical Model Organisms with High Resolution Episcopic Microscopy (HREM). J Cardiovasc Dev Dis. 2018 Dec 15;5(4):58. doi: 10.3390/jcdd5040058. PMID: 30558275; PMCID: PMC6306920.
England et al. Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. J Mol Cell Cardiol. 2017 May;106:1-13. doi: 10.1016/j.yjmcc.2017.03.006. Epub 2017 Mar 27. PMID: 28359939; PMCID: PMC5441184.
Weninger et al. Visualising the Cardiovascular System of Embryos of Biomedical Model Organisms with High Resolution Episcopic Microscopy (HREM). J Cardiovasc Dev Dis. 2018 Dec 15;5(4):58. doi: 10.3390/jcdd5040058. PMID: 30558275; PMCID: PMC6306920.
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