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Rubrica
Qualifica
Studiosa senior
Indirizzo
Non assegnato
Telefono
0498212155
EDUCATION AND TRAINING
Graduate education
1974: Biological Science Degree, University of Padova
Postgraduate education in Italian Institutions
1984: Specialised in Medical Genetics, University of Rome
Postgraduate courses
1992, European School of Medical Genetics, Sestri Levante, Genova, Italy
2000 1° Course in Genetics and Renal Disease, European Genetics Foundation, Sestri Levante Genova
EMPLOYMENT AT UNIVERSITY OF PADUA
1986-1991 Technical Coordinator, Molecular Genetics Laboratory, Department of Pediatrics
1991-1992 Technical Coordinator, Laboratory of Muscle Research, Department of Biomedical Sciences
1992-2001 Technical Coordinator, Laboratory of Nephrology, Department of Medical and Surgical Sciences
2001- april 2016: Research investigator, Department of Medical and Surgical Sciences, and Department of Medicine
Current position
Associate Professor of Medical Genetics, Director of the Laboratory of Histomorphology and Molecular Biology of the Kidney, Department of Medicine
Research fields
molecular biology of kidney biopsy, molecular genetics of rare nephropathies, renal stem cells
Teaching
Professor of Medical Genetics at Nursing degree courses of the School of Medicine
Research Professor at Doctoral School of Medical, Clinical and Experimental Sciences, Nephrology Course
RESEARCH EXPERIENCE
Author of 112 scientific papers many on international journals (74 on PUBMED total IF 230,9; total citation 1104, H-index 18) and 248 abstracts at international and national meetings.
Awards
Recipient of the 5th Nycomed Prize for basic research, The International Society of Paediatric Oncology, October 1995
Completed research supports
Primary Investigator:
1993 Italian Association for Cancer Research project
1995-1996 National Research Council project
1999-2000 National Health Ministry project
2002-2004 National Ministry of Education, University and Research project
2005-2007 University of Padua research project
2006-2008 National Ministry of Education, University and Research project
2009-2011 University of Padua research project
2012-2013 Rare Kidney Stone Consortium pilot project
2012-2014 University of Padua research project
Ongoing Research Supports
Primary investigator
2013-2017 University of Padua Strategic Project “BIOINFOGEN Bioinformatics for Personal Genomics” subunit 4°
Memberships in professional and scientific societies
Italian Society of Nephrology (SIN) (since 2000)
Cellular and Molecular Biology Study Group, SIN (1995-2005)
Italian Society of Human Genetics (since 1990)
International Society of Nephrology (since 2014)
National and international collaborations
International Consortium for NF1 and NF2 gene cloning and function (1992-1994)
Consortium of the European Concerted Action on Cystic Fibrosis (1991-1996)
Coordinator of Cellular and Molecular Biology Study Group of the SIN (2002-2005)
European Renal Cell Study Group (since 2001)
Italian Dent disease network (since 2005)
GENIAL network (Genetics and Environment in Nephrolithiasis Italian Alliance) (since 2008)
International Rare Kidney Stone Consortium (since 2010)
Member of editorial boards
Italian Journal of Nephrology (2003-2006)
The Open Tissue Engineering Regenerative Medicine Journal (2007-2009)
International Journal of Nephrology (since 2010)
Referee of national and international projects
Irish National Health Research Board (2001)
Italian Ministry of Education, University and Research (2013, 2014, 2015)
Regione Emilia Romagna (2012, 2013)
Avvisi
Area di ricerca
GENETICS OF NEPHROLITHIASIS:
1. Searching for genes involved in idiopathic calcium nephrolithiasis: application of whole genome technologies to the analysis of a three generation family with multiple affected members
2. Genotype-Phenotype correlation in Dent disease
3. Whole exome sequencing in Dent Disease with no mutations in CLCN5 and OCRL genes
5. Genetics of Medullary Sponge Kidney
6. Molecular and cellular mechanisms of nephrocalcinosis
RENAL STEM CELLS
1. Molecular and cellular mechanisms of nephrocalcinosis
2. Molecular and cellular mechanisms of renal interstitial fibrosis
Tesi proposte
PROGETTI DI TESI PER TECNICI DI LABORATORIO BIOMEDICO
Screening mutazionale mediante Sanger dei geni ATP6AP1 e ATP6AP2 candidati per la malattia di Dent
Validazione mediante sanger delle varianti geniche individuate da Whole Exome Sequencing: relazione tra coverage, qualita’ delle chiamate e falsi positivi.
Modello in vitro di nefrocalcinosi: studio di espressione dei geni pro e antiapoptotici.