Molecular genetic studies of CHARGE syndrome
1st Supervisor: Dr M.A. Basson
2nd Supervisor: Dr Clemens Kiecker
Description of project
CHARGE syndrome is a complex human birth defect that affect the development of many organs, including the brain. The gene mutated in CHARGE syndrome, Chd7, encodes a putative chromatin remodelling factor that may control the expression of a number of genes important for brain development. This project will involve the analysis of brain defects in various mouse models of CHARGE syndrome with the aim of identifying the developmental basis of brain defects and the genetic pathways affected by the loss or reduction in Chd7 gene dosage. Regulatory elements (gene enhancers) bound by CHD7 in the developing embryo will be identified and the mechanism whereby CHD7 regulates gene expression studied both in vitro (cell lines) and in the chick embryo by electroporation.
This project is a collaboration with the group of Professor Pete Scambler at the UCL Institute of Child Health in London.
Duration of project: 3 yrs
Contact for further information
Dr Albert Basson
Research Topic: Craniofacial Development & Stem Cell Biology
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