Dr. Carmelo Carmona-Rivera participated in the identification of a novel causing-gene of the rare condition named Hermansky-Pudlak syndrome under the mentorship of Dr. William Gahl. He is currently a research fellow and focuses on the cellular, biochemistry and molecular aspects of neutrophil extracellular traps (NETs) formation and its impact in autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus and vasculitis. Among his honor and awards are the American Association of Immunologist, American Society for Cell Biology and the Pan-American Society of Pigment Cell Research for his outstanding research.
NETosis is a neutrophil-programmed cell death characterized by the release of chromatin fibers decorated with antimicrobial peptides. This mechanism may promote externalization of autoAntigens that normally are sheltered from immune recognition. Therefore, underlying possible role of neutrophil extracellular traps (NETs) in the pathogenesis of heterogeneous autoimmune diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA).
Dr. Carmona is focused on determining factors present on NETs that trigger endothelial damage in lupus and RA. Proteins within NETs are posttranslationally modified (e.g. methylation, citrullination) creating neoantigens that may trigger and autoimmune response in SLE and other conditions. Thus, the elucidation of how posttranslational modifications present in NETs contribute to break tolerance and exacerbate the autoimmune response is another his goals.