The study has been recently published on Nature Communications and is co-authored by Prof. Raffaella Bonecchi. According to...
Head of the Department of Biomedical Sciences,Member of the Faculty Senate
Member of the executive committee of the PhD program in molecular and experimental Medicine
Member of the “Presidio di Qualità” at Humanitas University
Stefano Duga is Full Professor of Molecular Biology and Head of the Department of Biomedical Sciences at Humanitas University. After graduating in Veterinary Medicine summa cum laude, he received his PhD in Biotechnology from the University of Milan in 1997. He went on to win a one-year Fellowship from the European Community. After 3-years Post-doctoral fellowship in Human Genetics he became Assistant Professor (2001) and then Associate Professor of Molecular Biology (2006) at the Medical Faculty of Milan. He was awarded with prestigious international prizes: “ISTH Young Investigator Award 1999″ of the International Society on Thrombosis and Haemostasis, “Prize on Congenital Coagulation Disorders” of the Fondazione Angelo Bianchi Bonomi, Bayer Hemophilia Awards: Early Career Investigator Award for the year 2006. From 2012 to 2014 he acted as President of the Degree Course in Medical Biotechnology at the University of Milan.
He is directing the genomic platform at the Humanitas Research Center and is coordinating the “Medical Genetics and RNA biology laboratory”.
He is the author of more than 100 original publications in international peer-reviewed scientific journals indexed.
Scientific and Research Interests
Stefano Duga’s main scientific interests concern the study of the genetic basis and of the molecular mechanisms underlying human diseases. In particular, he is interested in the characterization of the pathogenic mechanisms that interfere with splicing and transcript stability. He also has a specific expertise in the study of the regulation of gene expression at the post-transcription level, in the analysis of the functional role of non-coding RNAs and in the application of genomic approaches (genome-wide association studies and next-generation sequencing, NGS) to the identification of the genetic components of human inherited diseases, both monogenic (such as rare coagulation deficiencies and inherited deafness) and complex (such as myocardial infarction and Parkinson disease). He is also actively involved in studying small molecules modulating splicing as potential therapeutics for cystic fibrosis.
- 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.
- Myocardial Infarction Genetics Consortium Investigators, Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, Asselta R, Merlini PA, Marziliano N, Notarangelo MF, Schick U, Auer P, Assimes TL, Reilly M, Wilensky R, Rader DJ, Hovingh GK, Meitinger T, Kessler T, Kastrati A, Laugwitz KL, Siscovick D, Rotter JI, Hazen SL, Tracy R, Cresci S, Spertus J, Jackson R, Schwartz SM, Natarajan P, Crosby J, Muzny D, Ballantyne C, Rich SS, O’Donnell CJ, Abecasis G, Sunyaev S, Nickerson DA, Buring JE, Ridker PM, Chasman DI, Austin E, Ye Z, Kullo IJ, Weeke PE, Shaffer CM, Bastarache LA, Denny JC, Roden DM, Palmer C, Deloukas P, Lin DY, Tang ZZ, Erdmann J, Schunkert H, Danesh J, Marrugat J, Elosua R, Ardissino D, McPherson R, Watkins H, Reiner AP, Wilson JG, Altshuler D, Gibbs RA, Lander ES, Boerwinkle E, Gabriel S, Kathiresan S. Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med. 2014;371:2072-82.
- Soldà G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S. A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing. Hum Mol Genet. 2012;21:577-85.
- 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.
- Duga S, Asselta R, Santagostino E, Zeinali S, Simonic T, Malcovati M, Mannucci PM, Tenchini ML. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood. 2000;95(4):1336-41