Molecular genetics of renal disorders
Luca Rampoldi

Email: rampoldi.luca@hsr.it
Location: DIBIT1 A2, Floor 4, Room 32
Director, Division of Genetics and Cell Biology
Group Leader, Molecular genetics of renal disorders
Luca Rampoldi is a scientist with recognised expertise in the field of molecular bases of genetic diseases. He trained as a geneticist, both as a bachelor (University of Milan) and as a Ph.D. student (University of Padua), spanning several areas, such as Quantitative Trait Loci and linkage mapping. He carried out his post-doctoral training in the laboratories of Prof. A. Monaco at the Wellcome Trust Centre for Human Genetics in Oxford (UK) (1999-2001) and of Prof. G. Casari at IRCCS Ospedale San Raffaele, Milan (2001-2003). As a postdoc, he broadened his expertise to disease gene identification and to functional studies of pathogenic mechanisms through the use of in vivo and in vitro models. He established his research group at IRCCS Ospedale San Raffaele in 2004, thanks to two consecutive Telethon Career Awards.
His group has been actively working at understanding the bases of uromodulin-associated kidney disease (ADTKD-UMOD), and more generally the role of uromodulin in health and disease, through the use of a wide range of approaches, ranging from human genetics, to cell and mouse models. Results obtained from these studies generated seminal papers that significantly contributed to current understanding of ADTKD-UMOD pathogenesis and that uncovered the role of uromodulin beyond Mendelian disease, as a risk factor for common disorders as hypertension and chronic kidney disease.
1998 PhD in Genetic Sciences. Thesis: “Human genes localisation through genetics methods”, Universita’ degli Studi di Padova, Padova (Italy)
1994 Degree in Biological Sciences cum laude. Thesis: “Gametophyitic selection and its evaluation using molecular markers”, Universita’ degli Studi di Milano, Milan (Italy)
January 2022-present Associate Professor in Medical Genetics, Università Vita- Salute San Raffaele, Milan (Italy)
June 2019-May 2024 Director, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan (Italy)
2014-present Head of Research Unit- Group Leader, Molecular Bases of Renal Disorders, San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Milan (Italy)
June 2017-May 2019 Deputy Director, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan (Italy)
2004-2014 Group leader, Telethon Scientist. Dulbecco Telethon Institute and San Raffaele Scientific Institute, Division of Genetics and Cell Biology, Molecular Genetics of Renal Disorders Unit, Milan (Italy)
2001-2004 Post-doctoral fellow, Human Molecular Genetics Unit (Prof. Giorgio Casari), San Raffaele Scientific Institute, Milan (Italy)
1999-2001 Post-doctoral fellow, Neurogenomics Laboratory (Prof. Anthony P. Monaco), Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford (UK)
1997-1998 Consultant, EuGene services (Dr. Lucia Tului, Prof. Bruno Brambati), Milan (Italy)
1995 SIGA (Italian Society of Plant Genetics) degree thesis award
1999 Fondazione Telethon post-doctoral award
1999 University of Padova post-doctoral award
2004 Assistant Telethon Scientist career award
2009 Associate Telethon Scientist career award
2022 Associate Professorship in Medical Genetics