EBS Genotyping Database

Contents:

• Project information
• Lay summary

Investigator: Professor Irwin McLean and Dr Robyn Hickerson

Institution: Centre for Dermatology and Genetic Medicine (DGEM), University of Dundee

Grant: Grant: £24,000 (To supplement a larger grant from Medical Research Council (MRC) of £1.81m over 5 years)

Lay Summary

The epidermolysis bullosa simplex (EBS) Genotyping database was a project co-funded by DEBRA UK and the Medical Research Council (MRC) set up to collect data on genotypes of EBS patients within the UK. The aim of this project was to determine the DNA sequences of the keratin 14 (KRT14) gene affected in EBS patients based within the UK in order to design sequence-specific therapeutics.

Everyone has two copies of the KRT14 gene – one paternal copy and one maternal copy. However, in EBS patients, one gene is normal and makes normal keratin protein but the other gene has a ‘mistake’ that stops the resulting mutant keratin protein from working properly and more importantly interferes with the normal keratin function, making the skin more fragile. By switching off the faulty gene the normal keratin protein can work properly without interference. 

The team sequenced the DNA to identify if there were any changes in the KRT14 gene code. The reason for doing this was to build up a picture of all the changes in the KRT14 gene in EBS patients, not just the mutations that cause the disease symptoms. By gathering this information from many EBS patients and people without EBS, it is hoped that this will help to design more precise and tailored treatments for EBS patients in the future. 

Data from this project is being used to inform the work into a novel gene therapy being developed by the same team. You can read more about this project here.