Study of Genetic Causes in Neutrophil-Mediated Inflammatory Skin Diseases Using Biobank and Healthy Donor Samples

What this Trial Is About

Researchers are investigating the genetic causes of rare neutrophil-mediated inflammatory skin diseases NMID, which are severe conditions characterized by inflammation, pain, and skin damage that can affect quality of life and may be fatal. This study aims to identify rare mutations linked to these diseases using advanced genome sequencing techniques, mainly whole exome sequencing, and to examine the expression levels of known inflammatory proteins in skin samples. The research focuses on the genetic background of NMID to better understand their origins. The study involves analyzing biological samples from various groups. These include 600 samples from NMID patients stored in biobanks, about 50 archived skin samples collected before 2014 for RNA and protein analysis, 2,700 anonymized control genomes and 150 control samples for proteomics, and up to 20 fresh skin samples from healthy volunteers. Researchers use methods such as DNA and RNA extraction, immunostaining, imaging techniques, cell culture, and protein analysis with ELISA and Western Blot. Participants contribute biological material such as blood, saliva, and skin samples that will be analyzed using standardized laboratory methods including Nanostring, RNA sequencing, qRT-PCR, proteomics assays, immunohistochemistry, flow cytometry, and imaging mass cytometry. The main outcome measured is the number of rare protein-coding gene variants related to NMID. Secondary outcomes include detailed protein and immune cell assessments. The study does not involve treatment but focuses on collecting and analyzing data to improve understanding of these skin diseases.

Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases