Andrea Ballabio – FTELE.IGM – Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy

andreaballabioInstitute description
The Telethon Institute of Genetics and Medicine (TIGEM) is part of a science and technology research complex that is also home to the CNR’s Institutes of Genetics and Biophysics (IGB) and of Protein Biochemistry (IBP). The Institute comprises 13 independent research groups with over 170 members including graduate students, post-doc fellows, technicians and administration. Research at TIGEM focuses on the study of rare diseases. Research approaches include cell biology, functional genomics, systems biology and gene therapy. Research activity at TIGEM is supported by several core facilities (AAV vector Core, Microscopy and Imaging Core, Cell Culture and Cytogenetics Core, Behavioural Core, Transgenic and Knock-out Core Facility, Bioinformatics Core) that provide state-of-the art technology as well as “house-keeping” assistance. The Institute is fully equipped to perform molecular and cellular biology experiments. An animal facility (600 sqm) is located on the ground floor of the laboratory building. TIGEM (together with the Fondazione Telethon) is responsible for the financial administration of the project.

Group leader
Andrea Ballabio, MD, is Director of the Telethon Institute of Genetics and Medicine (TIGEM) and Full Professor of Medical Genetics at the Federico II University of Naples. Prof. Ballabio is board-certified in Pediatrics. He was formerly Associate Professor of Molecular and Human Genetics and Co-Director of the Human Genome Center at Baylor College of Medicine in Houston, TX, USA. He is an EMBO member and former President of the European Society of Human Genetics.

His main scientific interests are the identification of the molecular basis and pathogenetic mechanisms of genetic diseases as well as the use of functional genomics in medicine. He and others have recently identified the gene responsible for Multiple Sulfatase Deficiency (MSD) and have generated a mouse model that faithfully recapitulates the human disorder. This mouse will be crucial to understand the pathophysiology of MSD and related disorders (WP1).

Role in the project
Workpackage Leader for WP1 and WP5. In particular, his laboratory will be involved in determining the pathophysiology of MSD (WP1) and developing new gene therapy approaches based on Adeno-Associated Virus (AAV) vectors for LSDs (namely MSD and Pompe disease; see WP5). His laboratory is also involved in WP3 and WP4. Finally, Partner 2 is responsible for the financial aspects of the project.

Key personnel

Name Title Gender Role/Expertise
Andrea Ballabio Group leader M WPL for WP1 and WP5
Alberto Auricchio Investigator M Gene therapy of ocular and metabolic diseases using AAV vectors (WP5)
Enrico Maria Surace Investigator M Understanding molecular mechanisms of retinal diseases and gene therapy including vector development and characterization (WP5)
Germana Meroni Investigator F Human genetics and functional gene characterization
Graciana Diez Roux PhD F Project Manager
Barbara Zimbardi F Secretariat, Administrative Assistant
Luciana Borrelli PhD F Project Administrator, Editor of EUCLYD website
Giampiero Lago PhD M Webmaster

Key publications

Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A (2008). A block of autophagy in lysosomal storage disorders.Hum Mol Genet 17: 119-129.

Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A (2007). Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proc Natl Acad Sci USA 104: 4506-4511.

Sardiello M, Annunziata I, Roma G. Ballabio A (2005). Sulfatases and sulfatasemodifying factors: an exclusive and promiscuous relationship. Hum Mol Genet 14: 3203-3217.

Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (2003). The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 113: 445-456.

Reymond, A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE, Ballabio A (2002). Human chromosome 21 gene expression atlas in the mouse. Nature 420: 582-586.