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Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Sponsor: University Hospital, Basel, Switzerland
Summary
This study is to identify rare, disease-causing mutations of several rare neutrophil dermatoses. To identify associations between NMID and variants in the genome next generation sequencing, mainly whole exome sequencing, will be used. In a second approach the expression level of already known inflammatory proteins in skin samples will be investigated.
Official title: Case-Control Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Key Details
Gender
All
Age Range
18 Years - 100 Years
Study Type
OBSERVATIONAL
Enrollment
3370
Start Date
2023-02-03
Completion Date
2029-09
Last Updated
2023-08-22
Healthy Volunteers
Yes
Interventions
Analysis of samples
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
Analysis of samples
RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
Analysis of samples
Biobanked skin samples will be analyzed by immunostaining and imaging techniques to identify cell types in lesions and compare them to healthy skin.
Analysis of samples
Cells isolated from biobanked blood and skin samples will be cultured in vitro and proteins will be analyzed by ELISA (secreted proteins) and western blot (cell proteins).
Locations (1)
University Hospital Basel, Clinic of Dermatology
Basel, Switzerland