RPDOC - Retour Post-Doctorants

Genetic and pathological mechanisms involved in intellectual disabilities associated with cerebellar malformation – CerID-Gene





Submission summary

• Intellectual disability (ID) affects approximately 1-3% of the population in developed countries. Owing to this high incidence ID impose a major medical and socio-economical problem and often have devastating social and emotional effects on the families. Despite recent advances in cytogenetic and molecular genetic technologies, the cause of the mental handicap remains unexplained in 40% of the cases, leaving families without accurate diagnosis and genetic counseling. Understanding the biological bases of these disorders is therefore an important medical challenge for the next years. Moreover, unraveling the molecular and pathophysiological bases responsible for intellectual disabilities should provide significant insight into the molecular and cellular pathways involved in cognition.
• Over the last decades, there has been increasing recognition that the cerebellum contributes to cognitive processing and emotional control in addition to its role in motor coordination. Yet, future studies are clearly needed to further elucidate the nature of the processes linked to cerebellar mediation of cognitive processes. Moreover, the combined analysis of human patients and mouse model systems should further advance our knowledge of the developmental processes involved in cerebellum formation.
• The aims of this study are thus to address these issues by developing an original project based on a multidisciplinary approach to :
- Decipher the genetic defect underlying several ID/cerebellar malformation disorders (IDCM)
- Understand the role of the disease-causing genes identified in the first step in normal cerebellum development and functioning
- Characterize a new conditional mouse mutant for a gene involved in a IDCM syndrome caused by a defect in protein N-glycosylation to better understand the role of the N-glycome and the contribution of the cerebellum to cognitive functions.
• Expected results should provide new insights into the molecular and cellular bases of cerebellar development and diseases, may demonstrate the role of cerebellum in cognition and, ultimately, may provide a model useful for novel therapeutic trials aiming at alleviating defective glycosylation and improving patient prognosis.

Project coordination

Vincent CANTAGREL (Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement) – vincent.cantagrel@inserm.fr

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.


Inserm/Université U 781 Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement

Help of the ANR 529,137 euros
Beginning and duration of the scientific project: February 2013 - 36 Months

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