A Medical Research Council Clinical Research Fellow at Queen Mary University of London working on cysts that afflict especially K17 patients
I was delighted to present my research on Steatocystoma Multiplex (SM) at this year’s annual meeting of the British Society of Investigative Dermatology (BSID). My group, led by Professor Edel O’Toole, is especially interested in understanding how cysts begin to form. We believe that understanding these early steps could pave the way to new treatments to prevent cysts altogether.
To explore this, we collected biopsies from patients of both early cysts and more established, larger cysts. I’ve spent a lot of time examining them under the microscope for unusual and interesting features. We then used a cutting-edge technique called spatial transcriptomics to understand what genes are active during early cyst formation, helping us to uncover the molecular pathways involved.
Excitingly, we’ve identified some pathways which are already targeted by drugs currently used in other conditions. Our hope is that these could be repurposed for SM. Before we can get to that point, our next steps are to confirm these findings at the protein level and then test treatments in cell models of SM.
The presentation was well received and there were thought-provoking questions- including on whether SM could be considered a ciliopathy. Ciliopathies are when tiny hair-like structures on cells, called cilia, don’t work properly. This stops cells from sensing their surroundings and knowing where they are so they get confused about what cell type they should become and how they should behave. We look forward to sharing more as our research unfolds!’
At PC Project, we are excited to watch Marianne’s research continue because of its relevance to our K17 patients especially who often suffer more from cysts than even the painful plantar keratoderma (or painful calluses on their feet). K6a and K6b patients also may develop multiple cysts.
Marianne also gave a talk about her research at a sold-out event aimed at laypeople called Pint of Science: https://pintofscience.co.uk/event/dna-detectives-uncovering-the-links-from-genes-to-disease.
