Hi everyone! I’m Pol, a PhD student at the Institute of Molecular Genetics of Montpellier, and part of the Chrom_Rare consortium team. I’m originally from Barcelona in Spain, and I ended up in France doing my PhD. I’m passionate about understanding how our genes control brain development — and what happens when this goes wrong.

My research focuses on a gene called CDK13. Mutations in CDK13 can cause neurodevelopmental disorders that look a lot like Kabuki syndrome, a rare condition linked to facial differences, developmental delays, and learning difficulties. I’m trying to figure out why this happens.

To do this, I use different types of cells such as stem cells, neural cells, and patient derived primary cells, to study how CDK13 regulate transcription and how its dysfunction may disrupt epigenetic modifiers like KMT2D and KDM6A, which are key players in Kabuki syndrome. I hope to uncover the molecular roots of these disorders — and maybe, one day, help find new ways to treat them.

For me, science is about asking questions that matter — not only to satisfy curiosity, but to bridge the gap between molecular biology and human health. Working with both cutting-edge techniques and real patient material reminds me why translational research is so powerful.

#PhDLife #Neuroscience #RareDiseaseResearch #KabukiSyndrome #Epigenetics #StemCells #MarieCurieFellow