Research Interests

primary cilia, MKS1, kidney organoids, polycystic kidney, ubiquitination

I'm interested in genetics and cell biology of ciliopathies, in particular Meckel-Gruber and Joubert syndromes. Although many causative genes for these conditions were identified we are still hoping to complete the set. I look into function of the identified genes/proteins in primary cilia function and sturcture, particularly its subcompatment - the transition zone. I aim to identify new transition zone components using high-content high-throughput screening. I'm also interested in the role of post-translational modifications of ciliary proteins, in particular ubiquitination. I use CRISPR-Cas9 to engineer MKS1 patient variants into iPSCs and differentiate them into kidney organoids to investigate the molecular mechanisms driving ciliopathy pathology.

I am happy for individuals outside my research group (particularly early career researchers) to present at one of my (online) group meetings – please contact me if you are interested.

I would like to present at group meetings organised by individual group leads – please contact me if you have an opportunity.