Marco Carbone - Researcher

Marco-Carbone-Dimet-UNIMIB Department and institution: Department of Health Sciences, School of Medicine and Surgery, University of Milano Bicocca,
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Curriculum Vitae
institutional profile page: UNIMIB
see also: PubMed, BOA

Keywords: primary biliary cholangitis, primary sclerosing cholangitis, autoimmune hepatitis

Research interests

    My research experience mainly relates to understanding how the pathophysiologic basis of chronic, autoimmune liver diseases can be translated into better clinical management for patients and to develop novel, targeted therapies for these patients.
    During my PhD studies in Cambridge I focused extensively on developing tools for stratified medicine in PBC using clinical and genetic data. I received statistical support and training from Prof. Heather Cordell (Institute for Genetic Medicine, Newcastle University) and Dr. Stephen Sharp (MRC Epidemiology Unit, University of Cambridge). As investigator of the UK-PBC roject, a large-scale, multi-thematic research platform to study PBC (, I have been deeply involved in the development and phenotyping of the UK-PBC research cohort, which
    is the largest, highly-characterized cohort of patients with PBC described to date. Objective of our work was to identify variables, which e nabled us to stratify the risk of disease progression in patients with PBC. During this period, I also spent some time in Bristol, where it is based the National Transplant Centre (NHSBT) holding the UK Liver Transplant Registry. Here I received statistical training in advanced modelling survival data from Professor Dave Collett and worked on liver transplant patients’ outcomes.
    My research in Cambridge was focused on developing biostatistical tools and methodologies that utilize complex and large amount of data to model disease progression in PBC. I applied a novel approach to GWAS using time-to-event analysis to assess the effects of multiple polymorphisms on disease progression with the aim to identify novel biomarkers; I explored new statistical techniques to model the risk of liver events using clinical variables. I developed a prediction scoring tool (online calculator available as a mobile app at: that is having great impact on the identification of patients at high-risk of poor outcome and the development of novel treatments. Our data have supported the FDA registration of the new drug Obeticholic Acid (Intercept Pharmaceutical) in patients with PBC with incomplete response to the standard therapy.
    At the end of 2014, I joined the ‘Centre for the Autoimmune Liver Disease Studies’ in Milan, Italy, where I continued to pursue my studies in clinical and genetic epidemiology. As part of my postdoctoral research, I have been investigating, in collaboration with researcher of the University of Cambridge, the role of previously uncharacterized genes associated with disease severity -having shown that several of them lie within fibrosis-associated genetic loci.
    I am currently involved in setting up a National Patient Registry for cholestatic and autoimmune liver diseases in Italy and in Switzerland.
    I have also an interest in clinical trials in chronic liver diseases and cholestatic liver diseases. I am a named principal investigator/sub-investigator in several ongoing industry-sponsored clinical trials, and work with a number of pharmaceutical companies for the development of novel therapies.
    My overarching goal is to translate scientific advances into devising specific and more effective therapies for chronic inflammatory diseases of the liver.

Main topics of the group

    - Risk prediction modelling
    - Clinical and genetic epidemiology
    - Patient-oriented, effectiveness research

Selected Recent Publications


last update: November 2017

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