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Deciphering The Genetic Basis Of Brain Malformation Disorders

Reference : PhD Binnaz YALCIN

Publication de l'offre : 6 avril 2016

Brain malformation disorders are severely distressing to both patients and their families. One of the most prevalent and severe brain malformation disorders is intellectual disability (ID). Yet despite its high prevalence and disabling nature, it remains one of the least understood of all health problems. Also, it is estimated that genetic mutations account for half of the currently undiagnosed cases with up to 2000 more genes remain to
be identified.

Recently several rare structural variants have been associated with syndromes involving ID such as the 17q21.31 and 16p11.2 deletions. The 16p11.2 syndrome is of particular interest because it is the most frequent cause of autism. Interestingly, the 16p11.2 deletion mouse models exhibit brain morphology and behavioural abnormalities, which is in line with the cognitive problems that have been observed in human patients. Yet the specific gene(s) affecting brain malformation in this locus remain(s) to be identified.

This doctoral project deals with the problem of the «missing» genes in brain malformation disorders such as intellectual disability and autism. There are two general aims. The first is to identify novel human ID genes across the whole genome and at specific genetic intervals by screening for abnormal morphology in the mouse brain. The second aim is to improve understanding of the pathophysiological mechanisms underlying brain
malformation disorders at both molecular and cellular levels.
In brief, this doctoral project provides a multidisciplinary approach to advance our understanding of the genetics of brain malformation disorders, ultimately aiming to improve diagnosis and treatment.

The proposed thesis integrates large-scale mouse knockout analysis and is grounded in a strong multidisciplinary perspective, combining mouse and human genetics, and developmental neurobiology.


1) A highly motivated candidate with a Master degree or equivalent in neuroscience with a significant neurobiological component,
2) Expertise in mouse neuro-anatomy and phenotyping, and microscopy will be essential,
3) Excellent laboratory skills with preferably a strong background in molecular biology.


1) Experience of communicating results clearly and logically,
2) Ability to work independently and as part of a team,
3) Ability to manage in an organized manner the day-to-day tasks of experimental research.

Votre candidature

Date limite de candidature : 31 décembre 2016

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