The Rockefeller University

Healthy Volunteers for the Human Genetics of Infectious Diseases (HGID)

Purpose

Our laboratory is working to find mutations in genes that may cause severe infectious diseases. We will draw blood and obtain a skin biopsy sample from healthy volunteers in order to support research studies being conducted in the Casanova Lab of Human Genetics of Infectious Diseases. We will perform experiments to test the mutations that we find in patients with severe bacterial viral fungal and other illnesses. The samples collected from healthy volunteers will be compared to those taken from patients with severe infectious diseases. Blood samples will be used as controls for but not limited to the following: for activation production of cytokines molecular expression cellular differentiation of either whole blood or just the white blood cells (leukocytes). A skin biopsy (up to 6mm) will be obtained and will be used to generate fibroblast and keratinocyte cultures. Fibroblasts and keratinocytes may be immortalized and used as controls for but not limited to the following: stimulation of cytokine production protein expression and response to infection with viruses and bacteria. The fibroblasts may also be reprogrammed to become stem cells from which we will derive cells of the central nervous system and the lung for research studies. Some experiments including single-cell RNA sequencing (scRNAseq) require fresh skin tissue. A 6mm biopsy will enable us to conduct multiple techniques in parallel including imaging studies (i.e. hyperion) and scRNAseq on the same individual and the same tissue site. Imaging studies will allow us to characterize the cellular architecture of the tissue and scRNAseq to establish the characteristics of the stratified epithelium (i.e. basal and differentiated keratinocytes) and to define which is the target cell of the pathogen in infected individuals vs. healthy controls. This tissue-based approach enables us to compare the interaction of the cells in the tissue in healthy controls vs. individuals with infectious diseases to better understand the pathophysiology of the disease.