Rosanna Asselta

Associate Professor
Medical Genetics

Member of the Joint Committee

E-mail rosanna.asselta@hunimed.eu 

Education and Academic Background

Associate Professor of Medical Genetics at the Humanitas University since its opening. Rosanna Asselta graduated in Biology and received her PhD in Molecular Genetics Applied to Medical Sciences at the University of Milan. In 2005, she became Assistant Professor in Molecular Biology at the Faculty of Medicine at the University of Milan. Prof. Asselta acquired over the years a strong expertise in statistical analysis of genetic data, thanks to her experience of two years in the Department of Molecular Medicine University of Helsinki and at the “Broad Institute of Harvard and MIT” of Boston. During her doctorate, and then in the post-doctoral program, she was able to complete her training following courses at the Turku Centre for Biotechnology (2004), the European School of Genetic Medicine (2005), Helsinki University (2006), Cold Spring Harbor Laboratory (2008), and the Dana Farber Cancer Institute (2009). Prof. Asselta received prestigious awards from the Foundation Telethon (2001), the European Molecular Biology Organization (2004), and the European Science Foundation (2004). In 2005, the Early Career Investigator Award was also awarded (as part of the international program “Bayer Hemophilia program”). She is the author of 114 full papers indexed in PubMed, with an average impact factor greater than 7, and an h-index of 25 (WOS), 24 (Scopus) and 29 (Google Scholar).

Scientific and Research Interests

The scientific work of Prof. Rosanna Asselta has focused on the study of genetic and molecular basis of human hereditary diseases both monogenic that multifactorial.

Prof. Asselta has dedicated the past five years to the study of:

  1. molecular mechanisms responsible for certain rare hemorrhagic coagulopathies (afibrinogenemia, congenital deficiency of coagulation factor V and XI).
  2. Study of the genetic determinants of susceptibility to some complex diseases (myocardial infarction youth, multiple sclerosis and Parkinson’s disease).

Selected Publications

  1. Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators: Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenborg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer CM, El-Mokhtari NE, Franke A, Gottesman O, Heilmann S, Hengstenberg C, Hoffmann P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Müller-Nurasyid M, Nikpay M, Olivieri O, Perreault LP, AlQarawi A, Robertson NR, Akinsanya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Strauch K, Varga TV, Waldenberger M, Zeng L, Kraja AT, Liu C, Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema J, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh G, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader DJ, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, Schunkert H. Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. N Engl J Med. 2016;374:1134-44.
  2. Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Kees Hovingh G, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Adrienne Cupples L, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Wilson Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O’Donnell CJ, Altshuler D, Gabriel S, Kathiresan S. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 2015;518:102-6.
  3. Paraboschi EM, Rimoldi V, Soldà G, Tabaglio T, Dall’Osso C, Saba E, Vigliano M, Salviati A, Leone M, Benedetti MD, Fornasari D, Saarela J, De Jager P, Patsopoulos NA, D’alfonso S, Gemmati D, Duga S, Asselta R. Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis. Hum Mol Genet. 2014;23:6746-61.
  4. Asselta R, Rimoldi V, Guella I, Soldà G, De Cristofaro R, Peyvandi F, Duga S. Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA. Blood. 2010;115:2065-72.
  5. Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs. Blood. 2001;98:3685-92.
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