I was born and raised in Poland where I obtained my PhD from Lodz University. In 2002, I embarked on research related to pathogenesis of myotonic dystrophy type 1 (DM1) after moving to the USA for postdoctoral training. Initially, my research was related to elucidating the mechanisms of genetic instability of expanded CTG repeats associated with etiology of the disorder and soon after it involved analysis of molecular hallmarks of mutant RNA toxicity. Prior to my CASCADE-FELLOWS fellowship, I worked in the Institute of Bioorganic Chemistry Polish Academy of Sciences in Poznan. In my spare time I like jogging and reading, as well as taking and processing photographs.
Brief description of research project
The main aim of this project is to identify novel transcriptomic and proteomic biomarkers of myotonic dystrophy type 1 (DM1) pathogenesis. DM1 is a debilitating disorder and its pathomechanism can be correlated with altered expression and activity of protein kinases and their targets. Experimental evidence showed that utilisation of small-molecule kinase inhibitors can mitigate DM1 pathogenesis, however, the mechanism of action of the molecules and tehir cellular targets need to be characterised. In the first 12 months of the fellowship we have emarked on performing transcriptomic and proteomic studies of DM1 and on analysing these results with various bioinformatics methods. These included global expression of transcripts and proteins, global splicing analysis of aberrantly spliced mRNAs, establishment of droplet digital PCR method for RNA expression and splicing analyses to validate high-throughput data, Western blot analysis to validate proteomics results, and high resolution microscopy to determine distribution and residual levels of mutant DMPK transcripts after treatment with various kinase inhibitors. We have also stared generating novel DM1 cell lines inducibly expressing the CUG repeat mutation which will enable determination of the primary and secondary elements in a kinase cascade upon induction of the repeat expression.