Sandra Jerkovic Gulin is the PI of the project and I (Sofie Haglund) a close collaborator and have done the application on behalf of Sandra.
Lichen sclerosus (LS) represents a chronic, inflammatory condition
that primarily affects mucocutaneous regions, with a notable predilection for anogenital
sites. It manifests with severe itching, pain due to erosions or fissures, and scarring. If not adequately addressed, it can progress to a severe stage ultimately leading to vulvar or penile cancer. The precise pathophysiological mechanisms and etiology of LS remain unclear, but there is a genetic component as illustrated by a family history of LS in 12% of cases.
The correlation between LS and vulvar and penile squamous cell carcinoma (SCC) is well-established, but the genetic drivers behind the progression to cancer remains unknown. In addition, LS patients are at increased risk of other cancer forms such as breast cancer, bladder cancer and prostate cancer.
In a pilot study whole genome sequencing was done on DNA from blood samples from patients with severe LS and a documented family history of disease, 11 male and 5 female. We have also taken skin swab from 9 male and 2 female LS patients, enriched the samples for virus particles and done DNA sequencing in order to describe the virome landscape.
We are reaching out because we have unfortunately lost our previous bioinformatics support and now need assistance to continue our genetic and virome pilot project. This is a pilot study aiming to describe
A) Inherited genetic variants associated with the disease LS vs the general population. We are looking for both strong signals vs the general population, but also to confirm resently described GWAS loci in the litterature in a Swedish context. .
B) In addition we are interested in wether inherited genetic variants associated with SCC, breast, bladder and prostate cancer are enriched in the LS patients. The GWAS catalog will be used as base for that purpose to target the analysis to described risk loci.
C) Describe the skin virome in LS
The population will later be extended and the bioinformatics used here may be adopted even further on. For now it is important to us to publish the pilot data to show we are active in the field
We are looking for structured bioinformatic collaboration including best-practice pipeline such as nf-core or other equivalent tools. The project has been discussed with NBIS 20 March (Eva Freyhult and Diana Ekman). In dialogue with NBIS we agreed it would be advisable to apply for ONE project although the Genetic (A and B) and the Virome (C) analyses will be handled in two separate bioinformatic analyses
We need your assisstance to do the bioinforamtics, the statistical calculations and graphic presentation of the results and to share the annotated script with us.