Tomaiuolo Rossella Professore AssociatoMedicineBio/12




Prof. Tomaiuolo obtained a degree in Medicine and Surgery (1998), a Specialization in Clinical Biochemistry (2002) and a PhD in Biotechnological Sciences (2006) at the Federico II University of Naples. In 2019, she obtained the Executive Master of Management of Healthcare and Social Welfare Organizations at SDA Bocconi. From 2021 she is University Professor at Università Vita-Salute San Raffaele, Milan.


Her research interests are developing and applying advanced technologies for the molecular diagnostics of hereditary genetic diseases and human reproduction.


From the 2003-04 academic year to date, Prof. Tomaiuolo has continuously carried out teaching activities in the areas of Clinical Biochemistry and Clinical Molecular Biology in university courses in the medical and biotechnology area.


Since 2015 she was involved in Technology Transfer activities, as creator and coordinator of the project "One4Two: screening of couple infertility in next generation sequencing", winner of the Award for Female Entrepreneurship at the National Award for Innovation (2015), selected for the 1st edition of BioUpper at the PoliHub incubator, Milan (2015/16) and winner of the European competition EIT-Innostar (2016). In 2017 the project was among the five selected for the "Italian Scouts in Silicon Valley" University project, took part in the Startup Initiative Life Science Investor organized by Intesa SanPaolo (London), was the winner of the Merck Hackathon for health and took participates in the X-innovation Summit organized by Merck (Dubai). In 2018, the project received the Seal of Excellence and the Grant from the European Commission as part of the Horizon 2020 activities, in the EIC- SMEInst-2018-2020 area.


Prof. Tomaiuolo has technical-instrumental, analytical and laboratory data interpretation skills in the field of molecular diagnostics applied to hereditary diseases and human reproductive medicine.

Prof. Tomaiuolo was invited speaker and author of numerous communications at international and national congresses in the field of clinical molecular biology and technology transfer activities. The scientific publications produced by Prof. R. Tomaiuolo, published in journals of international importance with a committee of peer reviewers, are present in the databases of international scientific literature (PubMed, Scupus, Web of Science). Their positive credit in the scientific community can be deduced from bibliometric indicators.


ORCID ID: 0000-0002-2828-782X

Scopus Author ID: 6508149224


(Update december 2022)


Di seguito sono elencate le pubblicazioni scientifiche prodotte dalla Prof.ssa R. Tomaiuolo e pubblicate su riviste di rilievo internazionale dotate di Comitato di Revisori alla pari nell’ambito della biologia molecolare clinica applicata alle malattie ereditarie e alla medicina della riproduzione umana.

1)  Castaldo G, Tomaiuolo R, Sanduzzi A, Bocchino ML, Ponticiello A, Barra E, Vitale D, Bariffi F, Sacchetti L, Salvatore F. Lung cancer metastatic cells detected in blood by reverse transcriptase-polymerase chain reaction and dot- blot analysis. J Clin Oncol. 1997;15:3388-93

2)  Tomaiuolo R, Spina M, Castaldo G. Molecular diagnosis of Cystic Fibrosis: comparison of four analytical procedures. Clin Chem Lab Med. 2003;41:26-32

3)  Castaldo G, Tomaiuolo R, Sanduzzi A, Ponticiello A, Marchetiello I, Salvatore F. Carcinoembryonic antigen mRNA analysis detects micrometastatic cells in blood from lung cancer patients. Eur Respir J. 2003;22:418-21

4)  Salvatore D, Tomaiuolo R, Abate R, Vanacore B, Manieri S, Mirauda MP, Scavone A, Schiavo MV, Castaldo G, Salvatore F. Cystic fibrosis presenting as metabolic alkalosis with hypochloremia in a boy with the rare D579G mutation. J Cyst Fibrosis 2004;3:135-6

5)  Polizzi A, Francavilla R, Castaldo G, Santostasi T, Tomaiuolo R, Manca A, De Robertis F, Mappa L, Oliverio FP, Salvatore F, Rigillo N. Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation. Am J Med Genet A. 2005;132:434-40

6)  Castaldo G, Polizzi A, Tomaiuolo R, Cazeneuve C, Girodon E, Santostasi T, Salvatore D, Raia V, Rigillo N, Goossens M, Salvatore F. Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in southern Italy population. Ann Hum Genet. 2005;69:15-24

7)  Salvatore D, Tomaiuolo R, Vanacore B, Elce A, Castaldo G, Salvatore F. Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction. Am J Med Genet A. 2005;133:207-8.

8)  Castaldo G, Tomaiuolo R, Vanacore B, Ferrara P, Del Vecchio S, Carnovale V, Abete P, Rengo F, Salvatore F. Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the f508del/D614G genotype. J Cyst Fibros 2006;5:193-5

9)  Tomaiuolo R, Sangiuolo F, Bombieri C, Bonizzato A, Cardillo G, Raia V, D’Apice MR, Bettin MD, Pignatti PF, Castaldo G, Novelli G. Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: a multicentric Italian study. J Cyst Fibrosis 2008;7:347-51

10) Elce A, Boccia A, Cardillo G, Giordano S, Tomaiuolo R, Paolella G, Castaldo G. Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis. Clin Chem 2009;55:1372-9

11)Tomaiuolo R, Degiorgio D, Coviello D.A., Baccarelli A, Elce A, Raia V, Motta V, Seia M, Castaldo G, Colombo C. An MBL2 haplotype and ABCB4 variants modulate the risck of liver disease in cystic fibrosis patients: A multicentric study. Digest Liver Dis. 2009;41:817-22

12)  Keller S, Sarchiapone M, Zagar T, Zarrilli F, Sacchetti S, Carli V, Ferraro A, Lembo F, Angiolillo A, Jovanovic N, Tomaiuolo R, Monticelli A, Roy A, Marusic A, Cocozza S, Fusco A, Bruni CB, Castaldo G, Chiariotti L. Increased BDNF promoter methylation in Wernicke’s area of suicide subjects. Arch Gen Psychiat 2010;67:1-11

13)  Berni Canani R, Terrin G, Cardillo G, Tomaiuolo R, Castaldo G. Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management. J Pediatr Gastroenterol Nutr 2010;50:360-6

14) Castaldo G, Lembo F, Tomaiuolo R. Molecular diagnostics: between chips and customized medicine. Clin Chem Lab Med 2010;48:973-82

15) Mesolella M, Cimmino M, Cantone E, Grassia R, Tomaiuolo R, Castaldo G, Raia V. Nasal polyposis in atypical cystic fibrosis: a case report. Int J Pediatr Otorh 2010;5:167-9

16) Tomaiuolo R. Mannose-binding lectin (MBL) genic variants: Advantage or disadvantage for longevity? Biochimica Clinica 2010;34:283-6

17) Pero R, Peluso S, Angrisano T, Tuccillo C, Sacchetti S, Keller S, Tomaiuolo R, Bruni CB, Lembo F, Chiariotti L. Chromatin and DNA methylation dynamics of Helicobacter pylori-induced COX-2 activation. Int J Med Microbiol. 2011 Feb;301(2):140-9

18) Tomaiuolo R, Fausto M, Elce A, Strina I, Ranieri A, Amato F, Castaldo G, De Placido G, Alviggi C. Enhanced frequency of CFTR gene variants in coupled who are candidates for assisted reproductive tecnology treatment. Clin Chem Lab Med 2011;49:1289-93

19) Fuccio A, Iorio M, Amato F, Elce A, Ingino R, Filocamo M, Castaldo G, Salvatore F, Tomaiuolo R. A Novel DHPLC-Based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta. J Mol Diagn. 2011;13:648-56

20) Keller S, Sarchiapone M, Zarrilli F, Tomaiuolo R, Carli V, Angrisano T, Videtic A, Amato F, Pero R, Di Giannantonio M, Iosue M, Lembo F, Castando G, Chiariotti L. TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior. J Affected Disord. 2011;135:400-4

21) Amato F, Bellia C, Cardillo G, Ciaccio M, Elce A, Lembo F, Tomaiuolo R. Extensive molecular analysis of patients bearing CFTR-Related disorders. J Mol Diagn. 2012;14:81-9

22)Terrin G, Tomauolo R, Passariello A, Elce A, Amato F, Di Costanzo M, Castaldo G, Canani RB. Congenital diarrheal disorders: an updated diagnostic approach. Int J Mol Sci. 2012; 13: 4168-85

23) Bellia C, Tomaiuolo R, Caruso A, Sasso BL, Zarrilli F, Carru C, Deiana M, Zinellu A, Pinna S, Castaldo G, Deiana L, Ciaccio M. Fetuin-A serum levels are not correlated to kidney function in long-lived subjects. Clin Biochem. 2012; 45:637-40

24) Tomaiuolo R, Ruocco A, Salapete C, Carru C, Baggio G, Franceschi C, Zinellu A, Vaupel J, Bellia C, Lo Sasso B, Ciaccio M, Castaldo G, Deiana L. Activity of mannose-binding lectin (MBL) in centenarians. Aging Cell. 2012;3:394-400

25) Tomaiuolo R, Bellia C, Caruso A, Di Fiore R, Quaranta S, Noto D, Cefalù AB, Di Micco P, Zarrilli F, Castaldo G, Averna M, Ciaccio M. Prothrombotic gene variants as risk factors of acute myocardial infarction in young women. J Transl Med. 2012;10:235

26)  Amato F, Seia M, Giordano S, Elce A, Zarrilli F, Castaldo G, Tomaiuolo R. Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis? PLoS One. 2013;8(3):e60448

27)  Giordano S, Amato F, Elce A, Monti M, Iannone C, Pucci P, Seia M, Angioni A, Zarrilli F, Castaldo G, Tomaiuolo R. Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders. J Mol Diagn. 2013;15(3):331-40

28)  Castaldo G, Tomaiuolo R. What is the role of the non-coding regions of the CFTR gene in cystic fibrosis? Expert Rev Respir Med. 2013;7(4):327-9

29) Tomaiuolo R, Nardiello P, Martinelli P, Sacchetti L, Salvatore F, Castaldo G. Prenatal diagnosis of cystic fibrosis: an experience of 181 cases. Clin Chem Lab Med. 2013:1-6

30) Canani RB, Terrin G, Elce A, Pezzella V, Heinz-Erian P, Pedrolli A, Centenari C, Amato F, Tomaiuolo R, Calignano A, Troncone R, Castaldo G. Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. Orphanet J Rare Dis. 2013 8:194

31) Degiorgio D, Corsetto PA, Rizzo AM, Colombo C, Seia M, Costantino L, Montorfano G, Tomaiuolo R, Bordo D, Sansanelli S, Li M, Tavian D, Rastaldi MP, Coviello DA. Two ABCB4 point mutations of strategic NBD- motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction. Eur J Hum Genet. 2013

32) Lo Sasso B, Bellia C, Tomaiuolo R, Zarrilli F, Scorza M, Caruso A, Agnello L, Bazza F, Carru C, Zinnellu A, Deiana L, Ciaccio M. Polimorfismo I/D del gene per l’enzima di conversione dell’angiotensina (ACE): gene della longevità o fattore di rischio nella patologia ipertensiva? Biochimica Clinica 2013; 37: 461-4

33) Berni Canani R, Tomaiuolo R, Pezzella V, Terrin G, Scorza M, Castaldo G. Diarree congenite: il ruolo della diagnosi molecolare. Gastroenterologia Pediatrica 2013; 43:123-132

34)Terlizzi V, De Gregorio F, Sepe A, Amato N, Arduino C, Casale A, Majo F, Tomaiuolo R, Castaldo G, Raia V. Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report. Minerva Pediatr 2013;65:669-72

35) Scorza M, Elce A, Giordano S, Amato F, Lo Sasso B, Zarrilli F, Tomaiuolo R. Identification and characterization of mutations in regulatory regions of cystic fibrosis disease gene. Biochimica Clinica 2013;37:465-9.

36) Castaldo G, Zarrilli F, Paccone M, Rocino A, Coppola A, Di Minno G, Tomaiuolo R. Hemophilia, how will end the story? Biochimica Clinica 2013;37:454-460

37) Giardina S, Scorza M, Zarrilli F, Castaldo G, Tomaiuolo R, Guerra G. Suicidio tra umanesimo e scienza. Biochimica Clinica 2014; 38: 121-8

38) Zarrilli F, Amato F, Keller S, Florio E, Carli V, Stuppia L, Sarchiapone M, Chiariotti L, Castaldo G, Tomaiuolo R. Tropomyosin-related kinase B receptor polymorphisms and isoforms expression in suicide victims. Psychiatry Res 2014;28:S0165-1781(14)00615-5.

39) Amato F, Tomaiuolo R, Nici F, Borbone N, Elce A, Catalanotti B, D'Errico S, Morgillo CM, De Rosa G, Mayol L, Piccialli G, Oliviero G, Castaldo G. Exploitation of a very small peptide nucleic acid as a new inhibitor of miR- 509-3p involved in the regulation of cystic fibrosis disease-gene expression. Biomed Res Int 2014;610718

40) Tomaiuolo R, Bellia C, Di Micco P, Elce A, Amato F, Lo Sasso B, Zarrilli F, Ciaccio M, Castaldo G. The implication of Mannose binding lectin deficient haplotypes in acute coronary syndrome: evaluation of a southern Italy population. EXPERIMENTAL AND CLINICAL CARDIOLOGY (2014) 20; 8: 2716-2719

41) Amato F, Tomaiuolo R, Borbone N, Elce A, Amato J, D'Errico S, De Rosa G, Mayol L, Piccialli G, Oliviero G, Castaldo G. Design, synthesis and biochemical investigation, by in vitro luciferase reporter system, of peptide nucleic acids as new inhibitors of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression. Med Chem Comm 2014;5:68-71.

42)  Terlizzi V, Tosco A, Tomaiuolo R, Sepe A, Amato N, Casale A, Mercogliano C, De Gregorio F, Improta F, Elce A, Castaldo G, Raia V. Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis. J Cyst Fibros 2014;135:579-84.

43)  Zarrilli F, Tomaiuolo R, Ceglia C, Lombardo B, Izzo B, Castaldo G, Pastore L, De Simone R. Molecular Analysis of Cluster Headache. Clin J Pain 2015;31:52-7.

44) Salvatore F, Cariati F and Tomaiuolo R. Facts, Challenges, Difficulties and Hopes in Single-Cell Biology: Physiopathological Studies. Single Cell Biol 2015, 4:121. doi:10.4172/2168-9431.1000121

45) D’Argenio V, Tomaiuolo R, Cariati F. La “whole genome amplification” su singola cellula. Biochimica Clinica 2016 DOI: 10.19186/BC_2016.034

46) Tomaiuolo R, Panteghini M. Il laboratorio nella medicina della riproduzione Biochimica Clinica, 2017, vol. 41, n. 4 DOI: 10.19186/BC_2017.041

47)  D’Argenio V, Nunziato M, D’Uonno N, Borrillo F, Vallone R, Conforti A, De Rosa P, Tomaiuolo R, Cariati F. Indicazioni e limiti della diagnosi genetica preimpianto. Biochimica Clinica, 2017, vol. 41, n. 4

48)  R. Vallone, C. Buonfantino, A. Conforti, P. De Rosa, F. Cariati, S. Picarelli, F. Caggiano, E. Spadarella, Tomaiuolo R, C. Alviggi, G. De Placido. Oncofertilità: dove siamo? Biochimica Clinica, 2017, vol. 41, n. 4

49) Cariati F, Savarese M, D’Argenio V, Salvatore F and Tomaiuolo R. The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth. Clin Chem Lab Med 2017.

50)  Cariati F, D’Uonno N, Borrillo F, Iervolino S, Galdiero G and Tomaiuolo R. Bisphenol a: an emerging threat to male fertility. Reproductive Biology and Endocrinology 2019 17:6

51)  V D’Argenio, F Borrillo, F Cariati, F Di Maggio, Tomaiuolo R. Glossario di biologia molecolare e biologia molecolare clinica. Parte I: termini generali" Biochimica Clinica, 2019

52)  Di Maggio FD, Borrillo F, Cariati F, Tomaiuolo R, D’Argenio V. Glossary of molecular biology and clinical molecular biology. Part II: Laboratory methodologies. Biochimica Clinica, 2019

53)  Cariati F, Borrillo F, Shankar V , Nunziato M, D'Argenio V, Tomaiuolo R. Dissecting intra-tumor heterogeneity by the analysis of Copy Number Variations in single cells: the neuroblastoma case study. Int. J. Mol. Sci. 2019, 20, 893

54)  Cariati F, D'Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med. 2019 Aug 14;17(1):267.

55)  Cariati F, Borrillo F, D'Argenio V, Tomaiuolo R. The laboratory assessment of sperm DNA fragmentation in infertile patients. Biochimica Clinica, 2020

56)  Cariati F, D'Argenio V, Tomaiuolo R. Innovative technologies for diagnosis and screening of genetic diseases in antenatal age. J Lab Precis Med 2020;5:6

57)  Cariati F, D'Argenio V, Izquierdo R, Tomaiuolo R. From laboratory bench to benchmark: technology transfer in laboratory medicine. Ann Transl Med 2020;8(6):353

58) Tomaiuolo R, Veneruso I, Cariati F, D'Argenio V, Microbiota and Human reproduction: the case of male infertility. High-Throughput 2020, 9, 10

59) Di Maggio FD, Borrillo F, Cariati F, Tomaiuolo R, D’Argenio V. Glossary of molecular biology and clinical molecular biology. Part III: Molecular diagnosis. Biochimica Clinica, 2020

60) Tomaiuolo R, Veneruso I, Cariati F, D'Argenio V, Microbiota and Human reproduction: the case of female infertility. High-Throughput 2020, 9, 12

61) D’Argenio V, Cariati F & Tomaiuolo R. One4Two®: An Integrated Molecular Approach to Optimize Infertile Couples’ Journey. Genes 2021, 12, 60



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