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Ewa Stępniak-Konieczna, PhD, DSc, Eng.

RNA and Disease Group

Our scientific interests cover multiple aspects of cell and molecular biology related to the pathogenesis and therapy of myotonic dystrophy (DM), an archetypal example of microsatellite repeat expansion disorder associated with toxic RNA gain-of-function.

Our current research focuses on Muscleblind-like (MBNL) genes, whose protein products – alternative splicing factors, are master regulators of cellular RNA metabolism and homeostasis. Functional depletion of MBNL proteins via sequestration on toxic RNA is a central event in DM pathogenesis. Using distinct antisense-based strategies, we are exploring the idea of epigenetic and transcriptional modulation of MBNL genes expression for a therapeutic advantage against this disease. Our aim is to define and analyse novel molecular triggers of MBNLs expression and adapt this knowledge into therapeutic strategies not only towards DM, but also other diseases associated with their functional depletion. Our team’s molecular toolbox involves genetic engineering techniques, mammalian cell culture and a variety of biochemical approaches.

Selected publications

  1. AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1. Stepniak-Konieczna E, Konieczny P, Cywoniuk P, Dluzewska J, Sobczak K (2020). Nucleic Acids Research.
  2. MBNL expression in autoregulatory feedback loops. Konieczny P, Stepniak-Konieczna E, Sobczak K. (2018). RNA Biology.
  3. Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript. Konieczny P, Stepniak-Konieczna E, Taylor K, Sznajder LJ, Sobczak K. (2017). Nucleic Acids Research.
  4. Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy. Bisset DR, Stepniak-Konieczna EA, Zavaljevski M, Wei J, Carter GT, Weiss MD, Chamberlain JR. (2015). Human Molecular Genetics.
  5. MBNL proteins and their target RNAs, interaction and splicing regulation. Konieczny P, Stepniak-Konieczna E, Sobczak K. (2014). Nucleic Acids Research. Review
  6. Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules. Childs-Disney JL*, Stepniak-Konieczna E*, Tran T*, Yildirim I, Park H, Chen CZ, Hoskins J, Southall N, Marugan JJ, Patnaik S, Zheng W, Austin CP, Schatz GC, Sobczak K, Thornton CA, Disney MD(2013). Nature Communications.

Current group members

Ewa Stępniak-Konieczna, PhD, DSc

principal investigator

Nikola Musiała, MSc

PhD student

Gilbert Zasoński, MSc

PhD student