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.
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
Study Type
OBSERVATIONAL
Enrollment
600
University Hospital Zurich, Dept. of Dermatology
Zurich, Canton of Zurich, Switzerland
RECRUITINGEnrichment of rare coding genetic variants
Whole exome sequencing is going to detect rare coding genetic variants in cases of Neutrophil-Mediated Inflammatory Skin Diseases. Statistical burden tests are applied to test for excess of rare variants in cases versus available controls of matching ancestry.
Time frame: baseline
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