Throughout my career, I dedicated my research to molecular and functional genetics. My focus has been identifying rare genetic disorders’ molecular bases and underlying physiopathological mechanisms. This work led to the discovery of new disease genes, FOXL2 and CRLF1, which play crucial roles in the BPES and Crisponi/CISS1 syndromes. Following gene discoveries, my research shifted to the functional characterization of FOXL2 and CRLF1, their encoded proteins, through molecular and cellular assays. I also played a key role in generating and characterizing the BPES mouse model created by Foxl2 knockout.
Since 2009, I have been involved in several projects aimed at transcriptome sequencing of primary cells isolated from blood using fluorescence-mediated cell sorting (FACS). These projects are part of the ProgeNIA/SardiNIA project, which, since 2001, seeks to identify the genetic components associated with aging and conditions of more general biomedical interest in the Sardinian population. These projects potentially impact our understanding of human health and aging.
My main contributions to the research can be summarized as follows:
• understanding of FOXL2’s role in the development and of its mechanisms of action
• discovery of CRLF1 as the causative gene of Crisponi syndrome and its functional characterization
• expansion of white blood cell eQTLs catalog and understanding of mechanisms underlying immune regulation.
• understanding of the genetics of female fertility
• genome-wide genetic studies for biomedical aging-related traits and diseases