Dr. Francesco Pegoraro (Meyer University Children’s Hospital, Florence, Italy)
The ECD Global Alliance has awarded the 2021 ECD Research Grant to Dr. Francesco Pegoraro, with Meyer University Children’s Hospital, Florence, Italy. The winning proposal, Exploring the genetic landscape of Erdheim-Chester disease by integrating GWAS and -omic data, was selected for funding for $50,000. The ECDGA is honored to be funding this groundbreaking work and believes it will result in a brighter future for ECD patients and a better understanding of histiocytosis. View Press Release
Amount: 50,000 USD
Interim Report
The project entitled “Exploring the genetic landscape of Erdheim-Chester disease by integrating GWAS and -omic data” was designed to investigate the genetic predisposition to ECD by performing methylation and gene expression studies. The genome-wide association study on ECD, whose results have been presented at the 2023 ECDGA meeting and are currently submitted for publication, identified a genetic variant (SETBP1) associated with ECD predisposition. We are now analyzing methylome and gene expression from patients to better understand the role of SETBP1 in disease pathogenesis. The same analyses will be performed on the most important cell type in ECD (monocytes), and, to complete this task, we are currently performing sampling and monocyte extraction from patients with ECD. These samples will be then shipped to Prof. Martin’s lab where the genetic analyses will be performed.