Board
Board Presidents
Laura Giaquinto
I was born in Naples and graduated in Chemistry at the University of Naples Federico II (2000) and completed my PhD in Microbiology and Immunology at The University of New South Wales in Sydney, Australia (2006). Since 2007, I have been a Postdoctoral Fellow at TIGEM, where I joined the Cell Biology and Disease Mechanisms program. During these years at TIGEM, I contributed to numerous research projects focused on genetic disorders (including Fabry Disease (FD), Amyotrophic lateral sclerosis 8 (ALS-8), Oral-facial-digital syndrome type 1 (OFD1), Spondyloepiphyseal dysplasia tarda (SEDT), Nephropathic Cystinosis) as well as COVID-19. Currently, my research spans several topics, including the study of the molecular mechanisms underlying NLRP3 inflammasome activation and various aspects of Fabry Disease. This includes the development of cellular assays aimed at characterizing a specific class of FD variants (VUS) and identifying hyperactive GLA variants that could be used in enzyme replacement therapies for the disease. Most recently, I became researcher at the University of Naples Federico II, Department of Molecular Medicine and Medical Biotechnology.
Leandro Roul Soria
I was born in Argentina, where I obtained a MSc in Biotechnology (2005) and a PhD in Biological Sciences (2012), both from the National University of Rosario. I have been working in nitrogen metabolism from the beginning of my scientific career. During my PhD, I studied the physiological function and regulation of mitochondrial ammonia transporters, and particularly their role in ammonia clearance and its metabolism into urea. In 2014, I moved to Italy to join the TIGEM as post-doctoral fellow to focus on translational medicine. During these years at TIGEM my major research effort has been focused on investigation of novel therapies for hyperammonemia and urea cycle disorders (UCDs), including gene transfer-mediated diversion of ammonia to glutamine. I have also made important contributions in the field of UCDs showing the role of autophagy in supporting ureagenesis with implications in both physiology and diseases. My current research focuses on finding novel and druggable post-translational modifications regulating ureagenesis, such as O-GlcNAcylation, and to investigate novel mechanisms and models for UCD.