- Medicinsk genetik
- Epigenetik, Kromatin
I apply biochemical, structural and functional genomic methods to explore molecular mechanisms of chromatin regulation in human cells. I am particularly interested in: (i) relating macromolecular structure, interactions and dynamics to function, (ii) designing innovative assays to perturb processes of medical interest, and (iii) building collaborations to tackle important questions in molecular medicine.
My current research seeks to understand transcriptional regulation by a poorly-characterized family of nuclear ATPases, the human microchordia CW-type zinc finger proteins (MORCs). MORCs repress genes and mobile genetic elements to maintain genome stability but we do not understand how silencing is imposed and why particular genetic elements are specifically targeted. A clear picture of the relationship between MORCs and epigenetic pathways is lacking. Patient mutations in MORC genes cause a range of neurodevelopmental disorders, demonstrating that accurate MORC functions are vital to human health.
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