Stefano Duga, PhD, Head of Lab and Full Professor (Humanitas University, italy)
Rosanna Asselta, PhD, Associate Professor (Humanitas University, Italy)
Chiara Chiereghin, PhD Student (Open University, Milton Keynes, UK)
Giulia Cardamone, Fellow
Elvezia Maria Paraboschi, PhD, Post Doc
Valeria Rimoldi, Researcher
Michela Robusto, PhD, Post Doc
Giulia Soldà, PhD, Researcher (Humanitas University, Italy)
Letizia Straniero, PhD Student (University of Milan, Italy)
Genetic bases of Mendelian diseases
We study the molecular mechanisms underpinning rare inherited coagulation diseases – fibrinogen, factor V, and factor XI deficiencies – with a specific focus on the functional characterization of mutations causing alterations in the intracellular processing and secretion of coagulation factors, and on genetic defects affecting mRNA processing.
We also work on the functional characterization of mutations causing cystic fibrosis (CF) and on the application of NGS to the genetic diagnosis of CF.
We are also deeply involved in the use of whole-exome sequencing to identify new genetic determinants of non-syndromic hearing loss.
Genetic predisposition to complex diseases
We are interested in understanding the genetic components of the predisposition to neurodegenerative diseases, such as Parkinson diseases (PD) and multiple sclerosis. In the past few years we have established, in collaboration with the Parkinson Institute of Milan, a large PD biobank including more than 6,000 DNAs of patients affected by PD and parkinsonisms and about 2,000 controls, as well as 700 RNA samples from PD patients. We are also working on the genetics of juvenile myocardial infarction, in collaboration with the Broad Institute of MIT and Harvard (Boston).
Role of non-coding RNAs in the pathogenesis of human diseases
We investigate the role of miRNAs and of other non-coding RNAs in the pathogenesis of different diseases: non-syndromic hearing loss, multiple sclerosis, PD, fascioscapulohumeral dystrophy, and myocardial infarction. In these pathological contexts, we 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 their interaction with the targets.