Principal Investigator TIGEM's Founding Director 1994 - 2024
Other positions: Professor of Medical Genetics, Department of Translational Medicine, University of Naples "Federico II", Italy. Visiting Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA.
Prof. Ballabio obtained his M.D. degree at the University of Naples, where he completed his residency in Pediatrics. After working as post-doctoral fellow at the Institute of Genetics and Biophysics in Naples and at Guy’s hospital in London UK, in 1989 he moved to the Department of Molecular and Human Genetics of Baylor College of Medicine in Houston TX USA, where he became Associate Professor and Co-director of the Human Genome Center. He moved back to Italy in 1994 to become the founding director of TIGEM. He has published over 360 articles in international peer-reviewed journals and contributed to 19 chapters of prestigious international books such as "Harrison's Principles of Internal Medicine" and "Molecular Bases of Inherited Disease". He is “inventor” of 7 international patents. Prof Ballabio has been a member of many committees of international bodies, such as the European Commission, the European Research Council and the EMBO Council. He is a former President of the Euopean Society of Human Genetics. He is a Co-Founder of Casma Therapeutics in Boston USA and an Advisory Board member of Next Generation Diagnostics and of Avilar Therapeutics. In 2007 he was awarded the title of Commendatore della Repubblica Italiana and received the silver medal for merit. He is a three-time winner (in 2010, 2016 and 2023) of the European Research Council (ERC) Advanced Grant. In 2016, he was the first scientist in Italy to receive the prestigious Louis-Jeantet Prize for Medicine for his contribution to understanding the molecular mechanisms controlling the function of lysosomes in health and disease. In 2020 he was awarded the title “Grande Ufficiale” of the Italian Republic. He is the 2021 winner of the Feltrinelli prize in biology of the Accademia dei Lincei.
Assistant Investigator Other positions: Associate Professor of Microbiology, Department of Environmental, Biological and Pharmaceutical Sciences and Technologies,University Luigi Vanvitelli, Caserta, Italy
Mirko Cortese studied Biotechnology at the University of Naples “Federico II”. After his graduation in 2008, he moved to GSK Vaccines (ex Novartis Vaccines and Diagnostics) in Siena for a post-graduate internship in the field of vaccine development. There he pursues his doctorate studies in collaboration with the University of Bologna on the implementation of “reverse vaccinology” to identify novel candidate antigens to develop a vaccine against human Cytomegalovirus. After his PhD in 2013, he moved to Germany for a post-doc in the Department of Infectious Diseases at the University of Heidelberg. There he studied the mechanisms of replication of positive-sense single-stranded RNA (+ssRNA) viruses and how viral infections rewire the host cell to create an environment conducive to viral replication and spread. He investigated two clinically important human pathogens, dengue virus and Zika virus, that can cause severe diseases. He described the ultrastructure of the viral replication organelle, a specialized intracellular compartment formed during +ssRNA virus infection in which viral genome replication takes place. More recently, he characterized the morphological alterations induced during the SARS-CoV-2 replication cycle and described how viral replication affect cellular organelles morphology and function thus contributing to viral cytopathogenicity.
Principal Investigator Cell Biology and Disease Mechanisms Program Coordinator Other positions: Professor of Biology, Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II" Antonella De Matteis obtained her M.D. degree at the University of L’Aquila, where she completed her residencies in Internal Medicine and in Endocrinology. In 1988 she co-founded the Consorzio Mario Negri Sud Research Institute, a research center with the aim of training researchers in the South of Italy, where she also was a researcher at the Laboratory of Neuroendocrinology. In 1992, she became Head of the Secretion Physiopathology Lab at CMN Sud. In 2009, she moved to TIGEM to start a new laboratory and continue her research. Since 2011, she has been Director of the Cell Biology Program at TIGEM. In 2016, she was awarded an ERC Advanced Grant (Systems Biology of Membrane Trafficking - SYSMET). She is currently Full Professor of Biology at the Federico II University of Naples, and a Faculty Member of both the European School of Molecular Medicine (SEMM) and of the Open University PhD Programme in Human Genetics. For the past 5 years, she has been invited as plenary/keynote lecturer in over 30 different prestigious meetings and advanced schools both in Europe and in the USA.
Assistant Investigator Other positions: Research Associate, Department of Translational Medicine, University of Naples "Federico II", Italy
Chiara Di Malta graduated in 2005 from the University of Naples “Federico II”, under the supervision of Professor Giuseppe D’Alessio in the Department of Structural and Functional Biology. She then joined TIGEM as an Open University PhD student, in Andrea Ballabio’s laboratory. Her main PhD research project was focused on the study of the mechanisms leading to neurodegeneration in lysosomal storage disorders (LSDs), rare genetic diseases that arise due to the accumulation of undigested material inside the lysosomes. She spent over three years in the United States, working at the Baylor College of Medicine (Houston) as a visiting PhD student. During this period, she also contributed to two research projects that led to the identification of the Transcription Factor EB (TFEB), a member of the MiT/TFE family of transcription factors, as a master regulator of lysosome biogenesis and autophagy function. As a postdoctoral researcher, she studied the signaling pathways regulating lysosomal adaptation to nutrient availability and identified a novel transcriptional regulation mediated by MiT/TFE factors that control mTORC1 signaling. More recently, she showed that this mechanism promotes cystogenesis and tumor growth in Birt-Hogg-Dube’ syndrome, a genetic condition due to loss of function mutations in the gene encoding FLCN, a key player of mTORC1 signaling activation. In 2020, she was appointed as a Research Fellow at the University of Naples “Federico II” and since January 2021, she has held a position as an independent investigator at TIGEM. Her research activities are currently supported by the AIRC, Kidney Cancer Association, Worldwide Cancer Research and the Telethon Foundation.
Principal Investigator Core Facilities Coordinator, TIGEM Other positions: Professor of Medical Genetics, Department of Translational Medicine, University of Naples "Federico II", Italy Director Graduate School of Medical Genetics, Federico II University of Naples,Naples Italy Coordinator Genomic and Experimental Medicine (GEM) Program, School for Advanced studies (Scuola Superiore Meridionale) Naples, Italy
Brunella Franco obtained a Degree in Medicine and Surgery from the Federico II University of Naples and completed a residency in Pediatrics at the Gaslini Institute and the University of Genoa. In 1989 she moved to the Department of Human and Molecular Genetics of the Baylor college of Medicine, Houston TX for postdoctoral training in Human Genetics. During this training her research interest was mainly focused on disease gene identification. In 1995 she returned to Italy thanks to the Italian Telethon Foundation and was one of the founding members of the Telethon Institute of Genetics and Medicine (TIGEM) in Milan, Italy. She then followed the Institute in its move to Naples first and then to the new destination in Pozzuoli where she coordinates a research group focused on understanding the molecular basis of selected rare inherited diseases. Brunella Franco is a human geneticist with a well-established reputation in the study of rare inherited conditions. Her efforts contributed to the identification of fourteen transcripts responsible for genetic disorders. In the last years her laboratory focuses on the translation of her research towards patient’s needs.
Principal Investigator Head of Cell Culture and Cytogenetics Unit Head of Electrophysiology Unit Other positions: Associate Professor of Medical Genetics, Department of Translational Medicine, University of Naples "Federico II", Italy
Luis Galietta completed his University studies in Biology in Naples, before moving to Genova in 1986 to work as a young investigator at the Gaslini Institute, one of the largest pediatric hospitals in Europe, and at the Institute of Biophysics of the CNR. In 1991, he obtained a permanent position at the Gaslini Institute researching the molecular and functional characterization of ion transport in epithelial cells, with a special focus on the elucidation of the pathogenic mechanisms underlying cystic fibrosis lung disease and the development of possible therapeutic strategies. From 2000 to 2003, he visited the laboratory of Prof. Alan S. Verkman at the University of California San Francisco, where he worked on the identification of pharmacological modulators of the mutant CFTR protein. In 2016, he moved to TIGEM to start a new laboratory and continue his research. His studies are supported by grants from Cystic Fibrosis Foundation (US), Vertex Innovation Award (VIA), Italian Cystic Fibrosis Foundation (FFC), Italian Ministry of Health, and the Million Dollar Bike Ride program.
Assistant Investigator Head of Mass Spectrometry Facility
Paolo Grumati obtained his master’s degree, in Medical Biotechnologies, and his PhD, in Genetic and Molecular Biology, at the University of Padova, working on the role of macro-autophagy in muscular dystrophies. After completing his PhD, he moved to Frankfurt am Main, at the Goethe University, in the Institute of Biochemistry II. There, he worked as a post-doc researcher and focused on the molecular mechanisms of selective autophagy. In 2019, he returned to Italy to establish an independent laboratory at TIGEM, where he coordinates a research group focused on selective autophagy and endoplasmic reticulum dynamics. Paolo Grumati has a strong background and experience in the field of autophagy as demonstrated by his publications in peer reviewed journals. He contributed to the field elucidating, for the first time, the role of autophagy in muscular dystrophies and then characterizing the molecular mechanisms of selective autophagy of the endoplasmic reticulum. His laboratory embraces an interdisciplinary approach combining biochemistry, molecular and cellular biology with proteomics and mathematical modeling.
Associate Investigator Head of High Content Screen Facility Other positions: Associate Professor of Biology, Department of Translational Medicine, University of Naples “Federico II”, Italy
Diego L. Medina obtained his PhD in Biochemistry and Molecular Biology in 2000, at the UAM/CSIC of Madrid, Spain. Since 2011, Prof Medina has held positions as Assistant Investigator and Head of the High Content Screening Facility at the Telethon Institute of Genetics and Medicine (TIGEM). Since April 2019, he has also held a position at the University of Naples “Federico II” as Associate Professor in Biology at the Medical Genetics Unit, Department of Medical and Translational Science. Prof. Medina’s research group focuses on the study of the fundamental biological role of lysosomal function in health and disease using state-of-the-art high content imaging (HCI), cell biology, and OMICs approaches. Information from basic research is then exploited for the development of new therapeutic strategies to treat rare genetic diseases. Medina has published 57 articles in peer-review international journals. His work is supported by many funding sources including the Horizon 2020 proposal (of which he is WP leader) and the Italian Telethon Foundation. He also receives support from a number of foundations which focus on specific diseases including the ML4 Foundation, CTF&CATS Foundation, Cure San Filippo Foundation, and MDBR grant program.
Assistant Investigator Other positions: Assistant Professor, Medical Genetics Unit, Department of Medical and Translational Science, Federico II University of Naples, Italy
Gennaro Napolitano obtained his master’s degree in Biological Sciences in 2005 at the University of Naples “Federico II”, where he also obtained his Ph.D. in 2009, after completing his training at the Institute of Genetics and Biophysics in Naples. Then he moved to the United States to work as a post-doctoral fellow at the University of California, San Diego and at The Scripps Research Institute, La Jolla. In 2014, he moved back to Italy to join the Telethon Institute of Genetics and Medicine (TIGEM). During his post-doctoral training he was awarded with several fellowships from different sponsors, including the Horizon 2020 European Union - Marie Skłodowska-Curie, DTI-IMPORT/Marie Skłodowska-Curie COFUND, CRF, AICF and AIRC. In 2016, he was appointed as a Research Fellow at the University of Naples “Federico II”, where he also became Assistant Professor in 2019. In 2020, he became group leader at TIGEM as an Assistant Investigator.
Gennaro Napolitano's research has mainly focused on cellular signaling pathways in human genetic disorders. He has authored numerous publications in high-impact peer reviewed scientific journals. His research is currently funded by Telethon, AIRC and the Italian Ministry of University and Research .
Associate Investigator Head of Advanced Microscopy and Imaging Core
Roman Polishchuk received his Master’s Degree in Biology in 1993 from the Ivanovo State University (Ivanovo, Russia) and his PhD in Cell and Developmental Biology from the Russian State Medical University (Moscow, Russia) in 1995. He was a postdoctoral researcher with Drs. Alberto Luini and Alexander Mironov at the Mario Negri Sud Research Institute (Italy). In 2000, he joined the lab of Jennifer Lippincott-Schwartz at the NICHD (NIH, USA) and returned to Mario Negri Sud Institute to start his own lab in 2002. During his early career he made important contributions to the characterization of transport mechanisms in different segments of the secretory and endocytic systems. Gradually, his work shifted focus towards the molecular mechanisms coordinating intracellular membrane trafficking, ion transport, and cell polarity in genetic disorders and cancer. Since 2009, Roman Polishchuk has had a Laboratory Head position at TIGEM, where he also acts as Supervisor of the Advanced Microscopy and Imaging Core. His lab has developed integrated experimental approaches to study the cell biology of inherited disorders of copper metabolism. He has also been among the pioneers of groundbreaking CLEM technology, which combines the advantages of live cell imaging and electron microscopy. He is the author of over 120 publications in international scientific journals. His research has been funded by Telethon, AIRC, Italian Ministries of Research and Health, and by the European Union.
Associate Investigator Other positions: Full Professor of Histology, Department of Clinical Medicine and Surgery, University of Naples "Federico II", Italy
Carmine Settembre graduated in 2002 in pharmaceutical chemistry at the University of Naples “Federico II”. In 2002 he joined TIGEM as a PhD student, after his PhD he moved to the United States as a post-doctoral fellow first at Columbia University in New York and then at the Baylor College of Medicine, in Houston. In 2011 he became Assistant Professor at the Baylor College of Medicine. In 2013, thanks to the Dulbecco Telethon Institute (DTI) career award program, he set up his own laboratory at TIGEM. He became Associate Professor in Histology and Embryology at the University of Naples “Federico II” in 2018. Dr. Settembre has received different awards such as the Ian Boyle award from the European Calcified Tissue Society (ECTS) and has been elected as an EMBO Young Investigator. He is recipient of prestigious grants from the European community (ERC StG, ERC PoC, ERC Consolidator) for the study of autophagy roles in health and diseases.
Assistant Investigator Other positions Tenured Researcher, Institute of Genetic and Biomedical Research-IRGB, CNR
Leopoldo Staiano graduated in Molecular Biology in 2008 from the University of Naples “Federico II”. In 2009, he joined the Cell and Developmental Biology department at the Stazione Zoologica Anton Dohrn in Naples for his PhD in Model Systems in Biomedical and Veterinary Research sponsored by the Veterinary School of Federico II University. During his PhD, his research focused on the evolution of the thyroid gland. In particular, he investigated the presence of a thyroid-like function in a marine invertebrate that does not actually have a thyroid but only has an organ that, in a small part of it, possesses the ability to concentrate iodine and to produce thyroid hormones. In 2012, he decided to change field and follow his main research interest: human diseases. He joined the De Matteis laboratory at TIGEM where he worked for 8 years on the cell biology of Lowe Syndrome, contributing to the discovery that endolysosomal and autophagy dysfunction contribute to kidney proximal tubule pathology in this rare and severe disease. He studied intracellular trafficking and phosphoinositide metabolism in health and disease, paving the way for the research interests that will be pursued within his own group.
