Romina Combi, graduated in Biological Sciences, is Associate Professor of Applied Biology at the School of Medicine and Surgery of the University of Milan Bicocca. R. Combi has focused his research activity mainly on biology and genetics applied in the neuroscientific field. Since 2000, she has been involved in several experimental projects regarding the study of the biological/genetic bases of neurological disorders (e.g., epilepsy, sleep disorders, autism, epileptic encephalopathies and neurodegenerative disorders). She has been engaged in the identification and characterization of new genes/new mutations involved in the pathogenesis of such pathologies that highlighted new possible pathogenetic mechanisms by in vitro analysis. She served as the primary investigator or co-investigator in all of these studies. R. Combi has published 39 papers in peer-reviewed international journals and is a member of the editorial board of international journals. Prof. Combi is in charge of the laboratory of Applied biology and human genetics at the University of Milan-Bicocca. Prof Combi is a member of: Centro 3R (Interuniversity Center for the Promotion of the Principles of the 3Rs in Teaching and Research), Laboratory of Microbiology and Clinical Virology (SMeL Code: 052) as expert / referent in Molecular Genetics; NeuroMi (Milan Center for Neuroscience).
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- Molecular Biology
- Cell Biology
- Human genetics
- Neurological and neurodegenerative diseases
- Biological Bases of Sleep Disorders
- Biological bases of epilepsy
- Biological bases of Behavioral Disorders
The objective of the studies is to deepen the knowledge of the pathogenetic mechanisms underlying neurological diseases. The studies, therefore, will focus on the mutational screening of genes already known to be involved in the pathogenesis of the analyzed disorders, on the identification of new candidate genes, and, subsequently, on the functional study in model systems in vitro and in vivo.
Most relevant publications
- Villa C, Colombo G, Meneghini S, Gotti C, Moretti M, Ferini-Strambi L, Chisci E, Giovannoni R, Becchetti A, Combi R*. CHRNA2 and nocturnal frontal lobe epilepsy: identification and characterization of a novel loss of function mutation. Front. Mol. Neurosci. 2019; 12:17 (IF 2018 3.720) doi: 10.3389/fnmol.2019.00017F
- Binda A, Rivolta I, Villa C, Chisci E, Beghi M, Cornaggia CM, Giovannoni R, Combi R*. Functional characterization of a novel KCNJ2 mutation identified in an Autistic proband. Front. Cell. Neurosci. 2018; 12:76 (IF 3.900) doi: 10.3389/fncel.2018.00076
- Picard F, Makrythanasis P, Navarro V, Ishida S, de Bellescize J, Ville D, Weckhuysen S, Fosselle E, Suls A, De Jonghe P, Vasselon –Raina M, Lesca, Depienne GC, An-Gourfinkel I, Vlaicu M, Baulac M, Mundwiller E, Couarch P, Combi R, Ferini-Strambi L, Gambardella A, Antonarakis S, Leguern E, Steinlein O, Baulac S. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology 2014; 82:2101-2106
- Functional characterization of a CRH missense mutation identified in an ADNFLE family. Sansoni V, Forcella M, Mozzi A, Fusi P, Ambrosini R, Ferini-Strambi L, Combi R. PLoS One. 2013 Apr 11;8(4):e61306.
- Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. Combi R, Dalprà L, Ferini-Strambi L, Tenchini ML. Ann Neurol. 2005 Dec;58(6):899-904.
The full list is available here: https://boa.unimib.it/simple-search?query=combi+r
- University Hospitals of Geneva (HUG), Geneva, Switzerland (Dr. Fabienne Picard)