Onze beursstudenten

Dokter Valérie JACQUEMIN

Project

Genetic architecture of congenital primary hydrocephalus: novel genes in consanguineous families and digenic inheritance in an outbred cohort

Project supervisor

Labo of hospitaal waar het project plaatsvindt

Medical Genetics Laboratory, IRIBHM – ULB

Objectives of research

Our previous work consisted in exome analysis, the recruitment of patients to enlarge our cohort, training in the qualitative and quantitative way to evaluate the phenotype, as well as the setting up of three novel lines of mutated zebrafish.
This work being the continuation of last year’s work, the objective is globally maintained:
1. Identify novel genes responsible for congenital primary hydrocephalus, by exome sequencing of an already available cohort of patients
2. Validate one recently identified candidate gene for primary hydrocephalus and one recently identified candidate gene for primary microcephaly in a zebrafish model
3. Characterize our mutated zebrafish line CCDC88C (gene discovered previously in our lab) responsible for autosomal recessive hydrocephalus in order to better understand the underlying mechanisms.