The Team
  • Researchers

    Christel DEPIENNE

    Binnaz YALCIN

  • PhD Students

    Perrine KRETZ

  • Engineers & Technicians

    Marie-Christine FISCHER

Translational medicine and neurogenetics

Genetic basis of cognitive disorders

Cognitive disorders are responsible for 5-10% of health care costs and are a leading cause of referrals to paediatric, neurological and genetic counselling services.

One of the most prevalent and severe cognitive disorders is intellectual disability. It affects 1-3% of the general population and yet despite its high prevalence, intellectual disability is also one of the least understood and the least investigated of all health problems. Furthermore, it is estimated that genetic mutations account for half of the currently undiagnosed cases, and despite recent successes in identifying some of the mutations responsible, it has been suggested that up to 2500 more genes remain to be identified.

Our general aim is to identify novel human cognition genes and gene networks by screening abnormal anatomy of the mouse brain, ultimately aiming to improve diagnosis and treatment.

We have two general approaches; the first is a genome-wide approach. We have a close collaboration with the International Mouse Phenotyping Consortium (IMPC), which aims at making knockouts for all 20’000 protein coding genes, to systematically study the neuro-anatomy of all IMPC knockout mouse strains in an unbiased manner. The second approach is to apply these mouse knockout resources to well-defined genetic intervals involving intellectual disability such as the 16p11.2 micro-deletion interval that is associated with neurodevelopmental delays and macrocephaly. So far, we have analyzed eight genes encompassing the 16p11.2 locus (Doc2a, Ino80e, Kctd13, Mapk3, Mvp, Prrt2, Sez6l2 and Tbx6).

In parallel to these large-scale genetic studies, we are developing complementary functional approaches, mainly based on the biological understanding of brain malformations, with a particular focus on corpus callosum agenesis, and micro- and macro-cephalies in WD40-repeat genes. We study several of these genes (Wdr37, Wdr47 and Wdr89) in order to understand their function in the central nervous system as well as in the whole organism.

In brief, our laboratory proposes a multidisciplinary approach to advance our understanding of the genetics of cognitive disorders associated with brain malformations. Our research integrates large-scale mouse knockout analysis and is grounded in a strong multidisciplinary perspective, combining mouse and human genetics, and developmental neurobiology.


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 /