Elvezia Maria Paraboschi

Dr. Paraboschi main research interest is the investigation of the genetic determinants and the molecular mechanisms at the basis of complex diseases, such as multiple sclerosis, using omics and bioinformatic approaches. In particular, she aims at dissecting the role of alternative splicing and back-splicing in the pathogenesis of multiple sclerosis. The final goal is to understand how the dysregulation of these mechanisms can be associated with the disease, as well as to find new molecular markers specific for the disease. She is also involved in a project aimed at finding the genetic determinants implicated in the susceptibility to the development of severe forms of respiratory syndromes due to COVID-19 infection.

Asselta R, Paraboschi EM, Gerussi A, Cordell HJ, Mells GF, Sandford RN, Jones DE, Nakamura M, Ueno K, Hitomi Y, Kawashima M, Nishida N, Tokunaga K, Nagasaki M, Tanaka A, Tang R, Li Z, Shi Y, Liu X, Xiong M, Hirschfield G, Siminovitch KA; Canadian-US PBC Consortium; Italian PBC Genetics Study Group; UK-PBC Consortium; Japan PBC-GWAS Consortium, Carbone M, Cardamone G, Duga S, Gershwin ME, Seldin MF, Invernizzi P. X chromosome contribution to the genetic architecture of primary biliary cholangitis. Gastroenterology. 2021 doi: 10.1053/j.gastro.2021.02.061.

Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, Fernández J, Prati D, Baselli G, Asselta R, Grimsrud MM, Milani C, Aziz F, Kässens J, May S, Wendorff M, Wienbrandt L, Uellendahl-Werth F, Zheng T, Yi X, de Pablo R, Chercoles AG, Palom A, Garcia-Fernandez AE, Rodriguez-Frias F, Zanella A, Bandera A, Protti A, Aghemo A, Lleo A, Biondi A, Caballero-Garralda A, Gori A, Tanck A, Carreras Nolla A, Latiano A, Fracanzani AL, Peschuck A, Julià A, Pesenti A, Voza A, Jiménez D, Mateos B, Nafria Jimenez B, Quereda C, Paccapelo C, Gassner C, Angelini C, Cea C, Solier A, Pestaña D, Muñiz-Diaz E, Sandoval E, Paraboschi EM, Navas E, García Sánchez F, Ceriotti F, Martinelli-Boneschi F, Peyvandi F, et al. Genomewide Association Study of Severe Covid-19 with Respiratory Failure. N Engl J Med. 2020. doi:10.1056/NEJMoa2020283.

Paraboschi EM, Khera AV, Merlini PA, Gigante L, Peyvandi F, Chaffin M, Menegatti M, Busti F, Girelli D, Martinelli N, Olivieri O, Kathiresan S, Ardissino D, Asselta R, Duga S. Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease. Haematologica. 2019:haematol.2019.237750. doi: 10.3324/haematol.2019.237750.

Paraboschi EM, Cardamone G, Soldà G, Duga S, Asselta R. Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions. Front Genet. 2018; 9:647. doi: 10.3389/fgene.2018.00647.

Cardamone G, Paraboschi EM, Soldà G, Cantoni C, Supino D, Piccio L, Duga S, Asselta R. Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis. Hum Mol Genet. 2018. doi: 10.1093/hmg/ddy438.