Last updated on February 2018

Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

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Brief description of study

This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a discovery cohort formed based on the certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole exome sequencing which identifies all protein-coding genetic variants. Subsequently, statistical burden tests are going to identify enrichment of rare coding genetic variants in patients affected by Neutrophil-Mediated Inflammatory Skin Diseases.

The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical intervention.

Detailed Study Description

Timeframe

• Collection of DNA for discovery cohort until 05/2016
• Data analysis until 12/2014 for pyoderma gangrenosum, until 12/2016 for other NMID
• Report and data presentation early 2015 for PG, 2017 for other NMID