Romina Combi

BIOSKETCH

I graduated in Biological sciences in 2000, and obtained the title of Specialist in Medical Genetics in 2005, at the University of Milano (IT). In 2006 I entered as Assistant Professor in the University of Milano-Bicocca (Department of Biotechnology and Bioscience since 2012, then Department of Medicine and Surgery) and in 2020 I have been upgraded to Associate Professor. Since 2009 I am the head of a laboratory of Human genetics and Applied biology which activities are mainly focus on the study of the molecular bases of neurological disorders. During more than 20 years of scientific activity with a broad background in medical genetics and cell biology, I have developed several technical skills in the following fields: molecular biology, cell biology, Sanger and NGS sequencing, transcriptomics, epigenetics, linkage analysis, cloning and mutagenesis, pedigree analysis

MAIN SCIENTIFIC INTERESTS AND ACHIEVEMENTS

Since the very beginning, my research activity has been focused on the study of the molecular bases of several neurological disorders, mainly epilepsy and sleep disorders. I have carried out, and I still carry out, activity of search of the genetic causes of idiopathic epilepsies and other disorders in large cohorts of patients. In particular, I have been engaged in the search of new genes involved in the pathogenesis of such pathologies by means of linkage analysis and NGS projects, search of mutations in new candidate genes and in vitro analysis of the effects of such mutations on the functionality and expression of the relevant proteins. This work allowed identifying two new genes associated with ADSHE (the CRH and the DEPDC5 genes) and several new mutations in already known genes (CHRNA2, CHRNA4, SCN1A). Moreover, functional studies highlighted new possible pathogenetic mechanisms. I served as the primary investigator or co-investigator in all of these studies.
More recently, my lab has also started projects aimed at identifying and studying new diagnostic biomarkers predicting the onset and the progression of neurodegenerative disorders.

POSSIBLE PhD PROJECT

The main scientific goal of the proposed project is to identify new cofactors and genetic variables that can influence the onset and the progression of neurodegenerative disorders through an innovative, integrative and multidisciplinary approach available thanks to an already established large network of national and international collaborations.

FURTHER DETAILS

Please visit https://www.researchgate.net/profile/Romina-Combi