My research group is interested in the study the molecular mechanisms underpinning human inherited diseases
We have significantly contributed to the understanding of the genetic basis of rare coagulation diseases – fibrinogen, factor V, and factor XI deficiencies. We are also using whole-exome sequencing to identify new genes responsible for inherited hearing loss.
We are interested in understanding the genetic components of the predisposition to neurodegenerative diseases, such as Parkinson’s diseases and multiple sclerosis. Another important field of research in my laboratory is the genetics of juvenile myocardial infarction, this work is partly conducted in collaboration with the Broad Institute of MIT and Harvard.
Study of the role of non-coding RNAs in the pathogenesis of human diseases
in this field, we are investigating the role of miRNAs and of other non-coding RNAs in the pathogenesis of different diseases: non-syndromic hearing loss, PD, and multiple sclerosis. In these pathological contexts, I try to identify non-coding RNAs that play a role in pathogenesis, to study their expression profile and biogenesis, to predict and experimentally validate their function and interaction with targets. Moreover, we are interested in the study of circular RNAs as potential biomarkers of different diseases and we are also working on the identification of small molecules modulating splicing as amplifier drugs in cystic fibrosis therapy.
Novel approaches for the molecular diagnosis of cancer.
We are deeply working at the identification of tumor element in biologic fluids for the early detection and molecular characterization of prostate cancer. I’m also collaborating to a radiomics project aimed at combining FDG-PET quantitative analysis with pathology data, somatic mutations, chromosomal rearrangements, patient outcome and therapy response in lung cancer.
2001 – Milan – University of Milan – Assistant professor of Molecular Biology
2006 – Milan – University of Milan – Associate professor of Molecular Biology
2014 – Rozzano – Milan – Humanitas University – Full Professor of Molecular Biology
March 2015 – February 2018 – Head of the Department of Biomedical Sciences of Humanitas University
2013 – today – Humanitas research hospital – Member of the Ethics Committee (expert in Genetics)
2019 – today – Academic lead for the MEDTEC course for Humanitas University
1994: Master degree in Veterinary Medicine (110/110 cum laude), University of Milan
1998: Ph.D. in Biotechnology, University of Milan
FELLOWSHIPS & AWARDS
1998 Fellowship from the European Community
1999-2001: Post-doctoral fellowship at the Department of Biology and Genetics for Medical Sciences
1999: “ISTH Young Investigator Award”
1999: “Prize on Congenital Coagulation Disorders” (Fondazione Angelo Bianchi Bonomi)
2006: “Bayer Early Career Investigator Award”
1998 Zurich University Basic Linkage Course
2004 Cold Spring Harbor Laboratory Course on the Genetics of Complex Human Diseases.
I’m author of 133 original publications in international peer-reviewed scientific journals with a total Impact Factor [ISI2018] of 1124 and a mean IF of 8.5.
H-index: 32 (ISI Web of Science) – 40 (Google Scholar) – 34 (Scopus)
Scopus Author ID: 6701674825- ORCID ID: 0000-0003-3457-1410
As Coordinator (active grants in bold face):
–PRIN 2017 (Progetto # 2017228L3J)
–Fondazione per la ricerca sulla Fibrosi Cistica (progetto FFC#5/2019)
-Fondazione per la ricerca sulla Fibrosi Cistica (progetto FFC#5/2015)
-Telethon 2011 (Grant n° GGP11177)
-Fondazione per la ricerca sulla Fibrosi Cistica (progetto FFC#6/2011)
-Fondazione Grigioni per la ricerca sulla Malattia di Parkinson 2011
-Fondazione Grigioni per la ricerca sulla Malattia di Parkinson 2009
-The Bayer Hemophilia Awards Program 2006, Bayer Healthcare LLC
As PI of Partner unit:
-Fondazione CARIPLO 2011 (Grant n° 2011-0524)
-Telethon 2011 (Grant n° GGP11164)
-PRIN 2008 (project # 2008RXFZ38_002)