Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses
Lead Sponsor: University of Zurich
|Source||University of Zurich|
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
|Overall Status||Unknown status|
|Primary Completion Date||2020-01-01|
Last Name: Alexander Navarini, MD
Email: [email protected]
|Has Expanded Access||No|
|Study Design Info||
Observational Model: Case-Only
Time Perspective: Cross-Sectional
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