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Rubrica

Personale Strutture

Qualifica

Studiosa senior

Struttura

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.