Human brain development relies on the tightly coordinated control of neural progenitor proliferation, cell fate decisions and differentiation. Understanding how these processes are regulated, and how their disruption leads to developmental brain disorders, is at the core of our research.
Studying rare genetic disorders provides unique insights into the cellular and molecular mechanisms that shape human brain development. In particular, ciliopathies encompass a remarkably broad spectrum of developmental brain anomalies, ranging from severe congenital malformations to more subtle neurodevelopmental disorders, offering important insights into how primary cilia regulate neural progenitor behaviour, cell fate decisions and developmental trajectories.
The "Ciliopathies and Brain Development" group combines human genetics, prenatal neurohistopathology and patient-derived human iPSC-based 2D and 3D models, including neural rosettes and cerebral organoids (Cerebral Organoids - Movie 1 ; Cerebral Organoids - Movie 2), with genome editing, high-resolution imaging, single-cell transcriptomics and complementary multi-omic approaches. Through these complementary approaches, we aim to identify new disease genes and uncover the mechanisms linking genetic variation to altered progenitor dynamics, neuronal differentiation and brain development.
Ultimately, this work aims to advance our understanding of human brain development and the mechanisms underlying developmental brain disorders, improve molecular diagnosis and pave the way for mechanism-based therapeutic strategies.
 

Group Members
Lucile BOUTAUD, Pharm D, PhD
Fanny GAYDA, Ingineer
Candice MONCLER, PhD student
Mariami Kharebava, M2 student
Active collaborations
Dr Sophie SAUNIER (Imagine Institute)
Dr Alessandra PIERANI (Imagine Institute)
Dr Marion COOLEN (Imagine Institute)
Dr Nadège BONDURAND (Imagine Institute)
Dr Emilie DAMBROISE (Imagine Institute)
Dr Maxime Greenberg (Jacques Monod Institute)
Dr Ronald Roepman (Radboud University Medical Center, The Netherlands)
Dr Tatiana KUTATELADZE (University of Colorado Anschutz, USA)