Developed skills and lines of research
Carlo Castellani graduated in 1985 from the University of Verona with a degree in Medicine and Surgery and then specialized in Pediatrics and Medical Genetics. In Verona, at the Cystic Fibrosis Center of the Maggiore Hospital, he worked from 1993 to 2008 as head of the Clinical Service of Neonatal Screening for Cystic Fibrosis and of the Simple Functional Facility Cystic Fibrosis of the Adult. In addition, also in Verona, he is Adjunct Professor at the University’s School of Specialty in Medical Genetics.[1]
Since July 2018, he has been Medical Director at the Cystic Fibrosis Center of “Gaslini Institute.”
His research activity is mainly in the field of cystic fibrosis genetics. He has been part of the European Cystic Fibrosis Society (ECFS) board and promoter and coordinator of important consensus meetings on newborn CF screening and clinical application of CFTR mutation analysis. For ECFS, he coordinated the Standards of Care working group and has been active on the board of the CFTR2 project for several years. He collaborates with FFC Ricerca on research on offering carrier screening to the general population, studies what changes in disease incidence, carrier-pair choices, and newborn screening.
At the end of March 2022, he became the scientific director of the Italian Cystic Fibrosis Research Foundation.
Projects funded by FFC Ricerca as Principal Investigator or as Research Manager
FFC Research strategic project 2021-2023. 1 in 30 and you don’t know it. An information and awareness campaign on the cystic fibrosis healthy carrier test
FFC#26/2015
Outcomes of spontaneous application of carrier screening for cystic fibrosis: follow-up of its effects on birth prevalence, neonatal screening and reproductive behaviour of carrier couples
FFC#8/2011
A field study in an area of extensive carrier screening for cystic fibrosis
Projects financed by FFC Ricerca as a partner
FFC#22/2013
Citizens’ jury and decision making on cystic fibrosis carrier screening: to screen or not to screen?
FFC#9/2011
Cystic fibrosis: to screen or not to screen? Involving citizens’ jury in decision on carrier screening
FFC#24/2006
Characterization of the unknown mutations in Italian CF patients and assessment of their pathogenic role: a prerequisite for prevention of cystic fibrosis by carrier screening and prenatal diagnosis
FFC #14/2005
New approaches for noninvasive prenatal diagnosis of cystic fibrosis by fetal DNA analysis in maternal plasma
FFC#5/2004
Screening of CFTR gene rearrangements in Italian CF patients
FFC#6/2003
Assessing the possible utilization of the CFTR-M470V genotyping for CF risk determination
Publications from FFC Research projects
Salvatore D, Tomaiuolo R, Abate R et al., Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation, Journal of Cystic Fibrosis, 2004, 3(2):135-6
Bombieri C, Bonizzato A, Castellani C et al., Frequency of large CFTR gene rearrangements in Italian CF patients, European Journal of Human Genetics, 2005, 13(5):687-9
Pompei F, Ciminelli BM, Bombieri C et al., Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations, Eur J Hum Genet, 2006, 14(1):85-93
Ciminelli BM, Bonizzato A, Bombieri C et al., Highly preferential association of NonF508del Cf mutations with the M470 allele, J Cyst Fibros, 2007, 6(1):15-22
Tomaiuolo R, Sangiuolo F, Bombieri C et al., Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study, Journal of Cystic Fibrosis, 2008, 7(5):347-51
Bruno F, Damin F, Causarano V et al., High- sensitive microarrays substrates specifically designed to improve sensistivity for the identification of fetal paternally inherited sequences in maternal plasma, Clin Chem Lab Med., 2009, 47(7):818-23
Mari C, Bruno F, Galbiati S, et al., Application of pyrosequencing to the identification of sequence variations in the cystic fibrosis transmembrane conductance regulator gene, Clin Chem Lab Med, 2009, 47(9):1051-4
Faa’ V, Coiana A, Incani F et al., A Synonymous Mutation in the CFTR Gene Causes an Aberrant Splicing in an Italian Affected by a Mild Form of Cystic Fibrosis, J Mol Diagn ,2010, 12(3):380-3.
Castellani C, Picci L, Tridello G, Cystic fibrosis carrier screening effects on birth prevalence and newborn screening, Genet Med. 2014, 18(2):145-51
Colombo C, Mosconi P, Alla scoperta del portatore sano della fibrosi cistica, Ricerca & Pratica, 2015
Mosconi P, Satolli R, Roberto A, Castellani C, Colombo C, Giurie dei cittadini: coinvolgere e deliberare nell’interesse pubblico. Anche l’Italia è un paese di Giurie dei cittadini, Ricerca & Pratica, 2015
Mosconi A, Castellani C, Villani W, Satolli R, Cystic fibrosis: to screen or not to screen? Involving a Citizens’ jury in decisions on screening carrier, Health Expect 2015, 18(6):1956-67
Carlo Castellani. Outcomes of spontaneous application of carrier screening for cystic fibrosis: follow-up of its effects on birth prevalence, neonatal screening and reproductive behavior of carrier couples. The Proceedings of the 16th Italian Convention of Investigators in Cystic Fibrosis. Multidisciplinary Respiratory Medicine, 2019, 14 (Suppl 1):5
Riconoscimenti
2015: “ECFS Gerd Doering Award”