Developed skills and lines of research
Professor Stefano Duga passed away prematurely in November 2021.
He earned a degree in Veterinary Medicine and a PhD in Biotechnology in 1997 at the University of Milan. He was a Full Professor of Molecular Biology at the Humanitas University in Milan. His main scientific interests included the pathogenic mechanisms underlying Mendelian diseases (rare bleeding disorders, deafness, cystic fibrosis) and multifactorial diseases (myocardial infarction, Parkinson’s disease, multiple sclerosis), with a particular focus on mechanisms affecting splicing modulation and transcript stability.
The research group he established developed specific expertise in studying the regulation of gene expression at the post-transcriptional level and using next-generation sequencing approaches to identify the genetic bases of inherited human diseases. In the field of cystic fibrosis, his work focused on a plant-derived compound (kinetin) and its analogs, with the aim of correcting splicing mutation effects in CF. He authored over 100 scientific articles published in peer-reviewed international journals.
Projects funded by FFC Ricerca as Principal Investigator or as Research Manager
FFC#5/2019
Small molecules modulating splicing as novel CFTR amplifier drugs
FFC#5/2015
The plant cytokine kinetin and its analogues as potential therapeutic agents to correct CFTR splicing defects
FFC#6/2011
CFTR mRNA analysis as a key step to understand the role of CFTR gene mutations in cystic fibrosis disease expression
Publications from FFC Research projects
Straniero L, Soldà G, Costantino L, Seia M, Melotti P, Colombo C, Asselta R, Duga S. Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis. J Hum Genet. 2016 Dec;61(12):977-984. doi: 10.1038/jhg.2016.101. Epub 2016 Aug 4. PMID: 27488443.
Costantino L, Rusconi D, Soldà G, et al. Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene. Am J Respir Cell Mol Biol, 2013 May;48(5):619-25. doi: 10.1165/rcmb.2012-0371OC.