Pathogenesis and therapy of primary immunodeficiencies
Location: Settore D, Floor 3, Room 6 and 7
Deputy director clinical research, San Raffaele Telethon Institute for gene therapy (SR-Tiget)
Group leader, Pathogenesis and therapy of primary immunodeficiencies Unit
Head, Clinical Research Unit, SR-Tiget
Full professor, Università Vita Salute San Raffaele
Chief of clinic, Pediatric Immunohematology Unit
Dr. Aiuti has a strong background in immunology and hematology and has been involved since many years in studying the genetics, disease pathogenesis and innovative treatments of several congenital immunological defects (such as ADA-SCID, DADA2, ARPC1B, X-CGD, Wiskott-Aldrich Syndrome, Ataxia Teleangectasia, CVID, DiGeorge Syndrome). He is part of the international COVID-HGE consortium that is studying the genetic and immunological bases of susceptibility to severe COVID-19 disease.
His research on hematopoietic stem cell biology led to the discovery of the first chemokine produced by bone marrow cells inducing migration of human hematopoietic stem progenitor cells (HSPC). In the past decade, Dr. Aiuti and his group have performed in vivo studies on the dynamics of human gene-corrected HSPCs by clonal tracking and functional studies, demonstrating that hematopoietic reconstitution after gene therapy (GT) occurs in distinct multi-clonal waves, with gene corrected HSCs representing a major contributor to steady state hematopoiesis. Dr. Aiuti has contributed as physician scientist to basic studies, preclinical research and clinical studies to successful clinical application (up to market registration) of HSPC-based gene therapy medicinal products for the treatment of rare genetic diseases of the immune system, inborn errors of metabolism and other blood disorders. Dr. Aiuti has followed the entire development process of gene therapy for ADA-SCID up to EU marketing approval of “Strimvelis”, the first ex vivo gene therapy approved worldwide. Since 2016, Dr. Aiuti is the PI of the HSPC GT trials for Metachromatic Leukodystrophy, which demonstrated safety and clinical efficacy in preventing or halting disease progression in the majority of patients and has achieved EU market approval in 2020 as “Libmeldy” (licensed to Orchard Therapeutics). The approach of HSPC GT based on enzyme overexpression and cross-correction has been recently successfully applied to Mucopolysaccharidosis type I and will be expanded to other lysosomal storage disorders.
Dr. Aiuti is author of more than 230 publications in international scientific peer-review journals and contributed 8 book chapters. He gave more than 100 lectures as invited speaker and abstract presentations to national and international congresses in the last 5 years. He is Member (representing clinicians) of the Committee for Advanced Therapies (CAT) of the European Medicines Agency (EMA). He is board member of IPINET and ESGCT, member of: the Inborn Errors Working Party (IEWP), ASGCT (International Committee and Global Outreach Committee), European Reference Network (ERN) on Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases Network (RITA). He serves as reviewer for: Nature, NEJM, Blood, Hum Gen Ther, Haematologica, JACI, Mol Ther, Frontiers .
Dr. Aiuti’s research is funded by international and national agencies including the European Union, Telethon Foundation, the Italian Ministry of Education University and Research, Italian Ministry of Health, Else Kroener Fresenius Foundation.
1998 National Board of Hematology, University of Milan
1996 Ph.D. in Molecular and Cell Biology, University of Rome “La Sapienza”
1990 M.D., University of Rome “La Sapienza”
2017-present Deputy Director clinical research, SR-Tiget, Milan
2016-present Full Professor of Pediatrics, Vita-Salute San Raffaele University, Milan
2014-present Chief of Clinic, Pediatric Immunohematology Unit, IRCCS Ospedale San Raffaele, Milan
2011-present Head, Clinical Research Unit, SR-Tiget, Milan
2009-present Coordinator of Clinical Research, SR-Tiget, Milan
2007-present Head of Unit on “Pathogenesis and gene therapy of ADA-SCID”, SR-Tiget, Milan
2014-12/2015 Associate Professor of Pediatrics, Vita-Salute San Raffaele University, Milan
2007-2014 Associate Professor of Pediatrics, University of Rome “Tor Vergata”
2003-2007 Head of Research Unit, IRCCS Ospedale San Raffaele, Milan
2000-2014 Hematologist, Pediatric Clinical Research Unit (SR-Tiget) and Pediatric Immunohematology, IRCCS Ospedale San Raffaele
2000-2007 M.D. Research Scientist, IRCCS Ospedale San Raffaele, Milan
1997-2000 Research Scientist, Telethon Foundation, Italy
1996-1997 Post-Doctoral Fellow, SR-Tiget, IRCCS Ospedale San Raffaele, Milan
1991-1995 Ph.D. Student, University of Rome
2020: The Else Kroener Fresenius Price for Medical Research 2020 for groundbreaking successes in the development of gene therapies.
2015: Award from the Centro Studi Marche (CE.S.MA) “Picus del Ver Sacrum” Marchigiani of the year 2014, XXX edition.
2014 National Award “Cultura della Solidarietà” for an outstanding activity in science, which has granted so many benefits to human being
2010 Award from AACS of Rome – Special Mention “Heart of Rome”
2010 XVIIIth ESGCT Meeting: Award for an outstanding career and pioneering contributions to the field
2009 HSR Scientific Retreat: Best paper award in translational medicine
2004 JOUAN Biotherapy Award for the best clinical research project
2003 Young Investigator Award, American Society of Gene Therapy
2002 Top abstract presented at the Plenary Session of the American Society of Gene Therapy
1996 Travel Award from the American Society of Hematology for presenting an oral communication at the ASH annual meeting in San Diego
1993 Winner of a fellowship from the Italian Ministry of Health for scientists working on AIDS research in a foreign country
1991 Award from the Istituto Pasteur Fondazione Cenci Bolognetti, University of Rome “La Sapienza”, for the best experimental thesis on basic sciences in year
1989 Award from the University of Rome and the Fondazione Sigma Tau for the best research work on basic sciences