About the Project
It has been reported CNS abnormalities in brain patients and adult BBS mouse models. Those morphological defects usually consist in enlarged ventricles and reduced mass of the hippocampus and striatum. However, it is unknown the development and/or degeneration of those affected brain areas and it is also not clear how their disruption modulate the phenotype in BBS animal models. Studying the hippocampal-hypothalamic regions development in Bbs1 and Bbs5 mutant mice lines will help to understand how the BBS genes regulate these pathways.
Our group is developing gene therapy protocols in order to treat BBS patients. We are using Bbs1M390R/M390R knock-in mice as an animal model to test our viral constructs. We design Adeno-associated virus (AAV) to transduce a BBS1 human copy delivered intracranially. There are different features that can be checked on those animals to analyse the efficacy of the gene therapy; from the recovery of the retinal thickness or the recovery of the animal weight. However, we lack of a robust molecular readout to monitor if the treatment is efficient in the CNS.
The aim of this project is to find features that can be quantified to be used in the future to test the efficacy of treatments. We will analyse the differences between mutants and control brains, studying a time series including juvenile and mature brains. We will focus specially in the treatment of hippocampal and hypothalamic areas that have been shown to possibly be affected in BBS patients. Details of the project can be asked in advanced.
Recently the UK Government made available the Doctoral Student Loans of up to £25,000 for UK and EU students and there is some funding available through the Research Councils. Many of our international students benefit from funding provided by their governments or employers. Brunel alumni enjoy tuition fee discounts of 15%.
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