Disease modelling

Cell culture model for a "natural gene therapy"

Ichthyosis with confetti (IWC) is a genetic skin disorder caused by specific  frameshift mutations in keratin 10 (KRT10). The skin of patients appears red and thickened. In early childhood however patients start to develop revertant/healthy looking white spots all over their body which show a loss of the original genetic mutation. This "natural gene therapy" is due to a gene conversion resulting in loss of heterozygosity (LOH) at the KRT10 locus. Together with our collaborators we aim to establish a cell culture model for IWC which will help elucidate the mechanism of this LOH. Knowledge of the mechanism may help trigger this and possibly other "natural gene therapies" in patients with inherited skin diseases.

Magomet Aushev, Patricia Goentoro, Claire Hedley and Oliver March are currently working on or have previously contributed to this project.

 

Cystic fibrosis

The study of cystic fibrosis (CF) is difficult as there is a lack of good models. Primary cells from patients are difficult to obtain and can only be grown for a limited number of passages in the lab. We therefore aim to establish a sustainable cell culture model that can be used to study the biology of CF and can also be used for drug targeting.

Sara Cuevas Ocaña is working on this project which is funded by the CF Trust as part of the Strategic Research Centre (SRC) INOVCF. The project is co-supervised by Dr Mike Gray.‌‌‌