Project partners

University of Rome Tor Vergata

University of Rome Tor Vergata

The Medical Genetics laboratory of the University of Tor Vergata (Rome) directed by Professor Giuseppe Novelli is a Centre of Excellence for Genomic Risk Assessment in Multifactorial and Complex Diseases. The laboratory covers the fields of Human Molecular Genetics, Citogenetics, Medical Genetics and Forensic Genetics. Research projects of the laboratory have contributed to the cloning of new genes, identification of new mutations, innovative methods for genetic therapy and pre and postnatal diagnosis. In the past years studies have been focused on miotonic dystrophy,  cystic fibrosis and on the genomic and genetic analysis of complex diseases such as atherosclerosis, psoriasis and also on pharmacogenomics. Recently relevant advances have been made in the study of the molecular basis of Mandibular Acral Displasia (MAD).

About 30 people work in the lab (including also students and PhD students).


Tor Vergata University of Rome's website

Contact: Giuseppe Novelli
Email Giuseppe

Facoltà di Medicina e Chirurgia
Via Montpellier, 1
00133 Roma
Tel:  +39 (0)6 2020301



University of Rome Tor Vergata and BIO-NMD

The university will be leader of WP7 - Biomarkers regulation and qualification at the EMEA. The team will also address other WPs' work in the process requested for regulation and qualification of biomarkers. This will create a net between the different WPs, thus facilitating their relationship with EMA and assisting the applicants in the submission of data, in order to obtain the qualification of proposed biomarkers in a short time frame.


Giuseppe Novelli

Giuseppee Novelli is Head of the Human Genetics Research Unit at The Tor Vergata University of Rome (Italy) and Dean of the Medical School in the same University. He graduated with a BSc in Biology from Urbino University in 1981 and achieved his PhD in Medical Genetics at the Sapienza University of Rome in 1985.

Since 1981, Professor Novelli has collaborated with Unité de Recherches de Biologie Prénatale INSERM U.73, Paris (France), Groupe de Génétique Moléculaire INSERM U.91 Créteil (France), the University ofSouthern California (Los Angeles, USA) and the Catholic University of Rome.

Professor Novelli is member of the National Committee on Cloning (Italian Ministry of Health) consultant to the Criminal Police Division of Science and DNA analysis, Rome; member of the National Committee (Italian Ministry of Research) in Molecular Genetics; consultant to GlaxoWellcome (Verona, Italy); Reviewer of INSERM (France) for scientific projects; member of the National Committee of Cell Stem Research (Italian Ministry of Health); member of the National Committee of Post-Genomic Project (Italian Ministry of Research); director of the Laboratory of Medical Genetics, Tor Vergata Hospital School; member of OECD (Organisation for Economic Co-Operation and Development); member of National Committee Biotechnology, President of Italian Ministry; member of National Committee on Genetic Testing; member of the «GROUPE D’EXPERTS EN GENETIQUE MOLECULAIRE» Maladies neurologiques, musculaires, neuro-sensorielles et retards mentaux. Ministère de la santé, de la famille et des personnes handicapées (France). He’s also reviewer of many international journals and a member of the American Society of Human Genetics (USA); the European Society of Human Genetics (ESHG); the American Association for the Advancement of Science (USA); the Human Genome Organization (HUGO); the Italian Society of Human Genetics (SIGU); and the World Muscle Society (WMS). He is member of Pharmacogenetics Working Party (PgWP), the CHMP Expert Group on Pharmacogenetics for EMA (European Medicines Agency).


Paola Borgiani

Paola Borgiani is an Assistant Professor in Medical Genetics. Her expertise lie in pharmacogenetics and biostatistics tools for genetic dissection of complex disorders. In 2005 she has a six month secondment at EMA as “National Expert” in the Pharmacogenetics field.


Nicoletta Paolillo

Nicoletta Paolillo gratuated in Biology at University of Naples “Federico II”. She received her  MSc in Scientific and Regulatory Assessment of  New Medicines at “Tor Vergata” University of Rome and since 2006 has been working on pharmacogenomics and complex diseases in Giuseppe Novelli’s human genetics laboratory.


Cinzia Ciccacci

Cinzia Ciccacci obtained her degree in Biology from “Tor Vergata” University of Rome. She got her PhD in Evolutionist Biology and Ecology from “Tor Vergata” University of Rome and since 2006 has been working on pharmacogenomics and complex diseases in Giuseppe Novelli’s human genetics laboratory.


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