BSc (Hons), Postgraduate Certificate in Clinical Cytogenetics
My work as a research assistant in the Buckle group focuses on trying to understand how three-dimensional genome organisation influences gene function and how this may be affected in disease.
In our group we use a variety of approaches to try and understand this exciting area of genome biology. My work is focused on using a range of microscopy-based approaches, including super-resolution techniques, to look at genome organisation. I have extensive expertise in fluorescence in situ hybridisation (FISH) techniques, which we use to paint particular regions of the genome inside cells of interest. By looking at genome organisation as genes switch on, or where different mutations exist, we can start to understand the importance of the spatial arrangement of the genome for genes to function.
We use red blood cells over the course of their differentiation as a source of material to help us address the questions we want to ask. These cells are very useful for two main reasons; they have genes that become active at particular stages during their differentiation, and we understand how these cells expand and differentiate outside the body so we can grow them easily in the lab.
We combine our data, taken from measurements made within individual cells, with a wide range of information gathered by other groups in the MRC Molecular Haematology Unit (MHU), especially the Hughes and Higgs groups, to give a comprehensive picture of the components necessary to allow genes to become active.
Part of my work includes helping staff with everyday issues that crop up relating to the communal microscopes sited within the MRC MHU. I am always available to help, where I can.
Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.
Silva AM. et al, (2015), Hum mol genet, 24, 3457 - 3471
Chromatin organisation at the alpha globin locus
Brown JM. et al, (2015), Chromosome research, 23, 362 - 363
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.
Babbs C. et al, (2013), Haematologica, 98, 1383 - 1387
Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression
Schödel J. et al, (2012), Nature genetics, 44, 420 - 425
Common genetic variants at the 11q13.3 renal cancer susceptibility locus influence binding of HIF to an enhancer of cyclin D1 expression.
Schödel J. et al, (2012), Nat genet, 44, 420 - S2