Brain development abnormalities are mainly genetic in origin and often lead to serious illnesses, posing considerable challenges in terms of diagnosis and treatment. Although their prevalence is low, these diseases represent a major public health issue. In recent years, technological advances such as human stem cells, DNA editing, Big Data and Artificial Intelligence have played a crucial role in improving the treatment of these rare diseases.

The GeDiNE research team is a French reference center for brain malformations and a world leader in clinical genetics related to brain formation. The inaccessibility of affected tissues is a major obstacle to an in-depth understanding of pathophysiological mechanisms and improvement of molecular diagnosis in humans. Approaches for differentiating human induced pluripotent stem cells (hiPSCs) into physiologically relevant tissues offer a unique opportunity to overcome these limitations. Our project is based on the use of stem cells to study rare diseases affecting early brain development. Our work aims to recapitulate the characteristics of forebrain development to model diseases resulting from defects that appear very early during forebrain formation.

To achieve this, we study the deleterious impact of gene variants involved in the occurrence of brain midline anomalies (SHH, DISP1, etc.). These alterations are obtained using genome editing technology on hiPSCs or patient-reprogrammed cells. This project includes the differentiation of pluripotent stem cells in 2D and 3D cultures, the characterization of cellular phenotypes and signaling functions (molecular biology, quantitative expression analysis, high-throughput transcriptomic analysis, immunofluorescence, confocal imaging).

We are seeking a postdoctoral researcher to join our "Genetics of Disorders related to Neuroectodermal Development" team at the Institute of Genetics and Development in Rennes, Brittany, France. The ideal candidate should have strong experience and experimental skills in stem cell biology and/or developmental biology. For any questions about the post, please feel free to contact us for informal enquiries.