EBS Genotyping Database

Investigator: Professor Irwin McLean

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

Grant: Grant: £24,000 (1 year - extended to complete: 28/02/2019) (To supplement a larger grant from Medical Research Council (MRC) of £1.81m over 5 years)

Lay Summary

The EBS Genotyping database is 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 programme initially funded by MRC, "Delivering gene silencing therapy to the epidermis and ocular surface", is very much aimed at and relevant for Epidermolysis Bullosa Simplex, representing about 70% of DEBRA's patient population (in the region of 3500-4000 patients in the UK alone).

It has been recognised that there is an incredible willingness from the EBS patient community to participate in the project to provide sampling and information in order for their genetic variation to be recorded. These data can then help identify new pathways for clinical research, and may also play an important role to help provide further research in to drug repurposing.

Not only will this be a platform for research in the UK, it could help inform research in EBS worldwide.