The primary cilium is a signalling organelle that regulates fundamental processes throughout human brain development, from early embryonic patterning to neuronal maturation. Defects in ciliary assembly or function give rise to ciliopathies, a heterogeneous group of rare genetic disorders that encompass one of the broadest spectra of developmental brain anomalies, ranging from severe congenital malformations to more subtle neurodevelopmental disorders.
The primary goal of the "Ciliopathies and Brain Development" group is to understand how the primary cilium reshapes human brain development and why its dysfunction leads to such diverse cerebral phenotypes. Using the broad clinical spectrum of developmental brain anomalies observed in ciliopathies as a unique model of human brain development, the group aims to identify new disease genes and uncover the molecular and cellular mechanisms by which ciliary signalling regulates neural developmental trajectories, cell fate decisions and epigenetic programmes throughout  human brain development.
To address these questions, the group combines human genetics, prenatal neurohistopathology and patient-derived stem cell models with genome editing, advanced imaging and single-cell multi-omic approaches. Ultimately, this work aims to redefine the mechanisms underlying developmental brain disorders, improve molecular diagnosis and pave the way for mechanism-based therapeutic strategies.