4 départements de recherche
750 employés
45 nationalités
55 équipes de recherche
16 lauréats ERC
260 publications par an
24000 m² de laboratoires

Soutenez-nous via

Fondation universite de Strasbourg


Chef d'équipe

Pascal DOLLE
Tel. : +33 (0)3 88 65 33 34
Tel. : +33 (0)3 88 65 33 42

Les chiffres

51 équipes de recherche
138 chercheurs
52 post-doctorants
108 doctorants
158 ingénieurs & techniciens
124 administratifs & services généraux 110 personnels ICS

Accès direct


Rogdi- A Novel Protein- With A Leucine Zipper Domain- Dually Regulating Neurological And Orofacial Development

Reference : PhD Agnès Bloch Zupan

Publication de l'offre : 26 janvier 2018

Signals guiding craniofacial development are also used in establishing sensory, motor, and cognitive function. Such widespread cranio-oro-facial phenotypes are often due to alterations in key DNA transcriptional factors or members of the DNA repair process. Our laboratory combines patient-based clinical screens with the strength of the IGBMC/Institute Clinique de la Souris (ICS) in creating and analyzing equivalent mouse models. We identify, treat, and perform genomic screenings of patients with unusual dental craniofacial defects (see http://www.eucor-uni.org/fr/2016/06/03/rarenet-defie-les-maladies-rares-dans-la-vallee-du-rhin-superieur) to identify candidate genes.


Currently, we are investigating a novel leucine zipper domain-containing protein of unknown function (transcription factor) –ROGDI. Patients with an autosomal recessive mutation in this gene exhibit Kohlschütter-Tönz Syndrome, displaying epilepsy, severe psychomotor regression, and amelogenesis imperfecta symptoms. Using the approach of gene targeting we have created an equivalent mouse model for this disease. The phenotypic correlations between mouse and human models will help to define the etiology of the disease and to adapt its management.


The Ph.D. research project will involve analysis of this mutant, and postnatal models including both inducible brain and epithelial-specific deletions of ROGDI. To understand neurodegenerative and enamel deficits, the candidate will conduct comparative genomic studies. Whole genome RNA-sequencing, ChiP-Seq, combined with bioinformatic approaches should uncover a ROGDI transcriptional network. The physiological relevance of the genes found by transcriptome analysis will be validated by in situ hybridization, immunohistochemistry and functional genetics. Selecting key targets, the candidate will attempt functional rescue using in utero electroporation and pharmacological treatment of epilepsy to develop translational approaches.


Thesis supervisor : Agnès Bloch-Zupan

Votre candidature

Date limite de candidature : 1 novembre 2018

Imprimer Envoyer

Université de Strasbourg

IGBMC - CNRS UMR 7104 - Inserm U 1258
1 rue Laurent Fries / BP 10142 / 67404 Illkirch CEDEX / France Tél +33 (0)3 88 65 32 00 / Fax +33 (0)3 88 65 32 01 / directeur.igbmc@igbmc.fr