Prof. COLOSIMO Alessia
Prof. COLOSIMO Alessia

Email: acolosimo@unite.it

Telefono: 0861-266840

Dipartimento di appartenenza: BIOSCIENZE E TECNOLOGIE AGRO-ALIMENTARI E AMBIENTALI

 
 
 

Curriculum accademico

CURRICULUM VITAE ET STUDIORUM

 

1992: Laurea in Scienze Biologiche, Università degli Studi di Firenze con votazione di 110/110 e lode.

1993: Abilitazione all'esercizio professionale di Biologo e Iscrizione all'Albo Professionale dei Biologi.

2000: Dottorato di Ricerca in Genetica Medica, Università degli Studi "Tor Vergata" di Roma. Titolo della tesi: "Approcci sperimentali di terapia genica per la Fibrosi Cistica".

2000: Vincitore di concorso per Ricercatore Universitario per il raggruppamento concorsuale E06X (Biologia Applicata), Università degli Studi "G. D'Annunzio" di Chieti-Pescara.

2003: Conseguita idoneità a Professore Associato per il raggruppamento concorsuale 06/A1 (ex-MED03) (Genetica Medica), Università degli Studi di Teramo.

2004: Presa di servizio come Professore Associato per il raggruppamento concorsuale 06/A1 (ex-MED03) (Genetica Medica), Università degli Studi di Teramo.

2002-2004: Membro del Collegio dei Docenti del Dottorato di Ricerca in "Robotica ed innovazioni informatiche applicate alle scienze chirurgiche", Università degli Studi "Tor Vergata", Roma.

2004-2014: Membro del Collegio dei Docenti del Dottorato di Ricerca in "Biotecnologie molecolari e cellulari" Università degli Studi di Teramo.

2015-2021: Presidente del Corso di Laurea magistrale in Reproductive Biotechnologies, Università degli Studi di Teramo

 

PREMI E BORSE DI STUDIO

1994: Vincitrice della Borsa di studio FISME per giovani ricercatori IX Congresso Nazionale della Federazione Italiana Studio Malattie Ereditarie.

1994: Vincitrice del "Master per Educatore alla salute alimentare", Istituto Italiano di Medicina Sociale e Università "Tor Vergata" di Roma.

1996: Vincitrice della Borsa di studio FISME per giovani ricercatori XI Congresso Nazionale della Federazione Italiana Studio Malattie Ereditarie (FISME)

1999: Vincitrice di Borsa di Studio TELETHON (393/b) per giovani ricercatori italiani all'estero. Titolo del progetto finanziato:"Optimization of small fragment homologous  replacement (SFHR) technique".

SOGGIORNI DI LAVORO ALL'ESTERO

1998-2000: Esperienza di ricerca all'estero presso il Cardiovascular Research Institute, University of California, S. Francisco (UCSF), USA, nel laboratorio diretto dal Prof. Dieter Gruenert.

COLLABORAZIONI SCIENTIFICHE

2000-oggi: Attività di collaborazione scientifica con l'Istituto CSS-Mendel di Roma.

2000-oggi: Attività di collaborazione scientifica con il laboratorio di Genetica Umana Molecolare, University of California (USA)

2000-oggi: Attività di collaborazione scientifica on il Centro di Microcitemia ANMI (Roma).

COORDINAMENTO DI INIZIATIVE SCIENTIFICHE

2001: Co-organizzatrice del Congresso Internazionale "Genome medicine: gene therapy for the millennium".

Rome, 30 September -3 October, 2001.

2002: Co-Chair al Workshop6: Gene Therapy update. 25th Congress European Cystic Fibrosis Society. Genoa, 20-23 June 2002.

ALTRI INCARICHI PROFESSIONALI E SCIENTIFICI

2000-oggi: Invited Reviewer per riviste internazionali: BioTechniques, Human Mutation, Clinical Chemistry; The Faseb Journal; Journal of Gene Medicine; Oligonucleotides, BioTechniques, BMC Biotechnology; Malaysian Journal of Medical Sciences.

2010-oggi: Membro dell'Editorial Board "World Journal of Hematology

TITOLARITA' DI BREVETTI

2001: Brevetto U.S. Patent Application n. 09/794,689 "Expression vector system and a method for optimization and confirmation of DNA delivery and quantification of targeting frequency"

AFFILIAZIONI A SOCIETA' SCIENTIFICHE

1994-1998: Membro dell' Associazione Italiana di Genetica Medica (AIGM).

1998-oggi: Membro della Società Italiana di Genetica Umana (SIGU).

2010-oggi: Membro dell'associazione StemTech.

ATTIVITA' DI RICERCA

Le principali aree di ricerca intraprese sono:

-         Biotecnologie applicate alla caratterizzazione di malattie ereditarie monogeniche e complesse

-         Biotecnologie applicate per l'identificazione di mutazioni causative di malattie ereditarie

-         Terapia genica non virale di malattie ereditarie mendeliane

-         Metodiche di isolamento, caratterizzazione e utilizzo su scaffold di cellule staminali ematopoietiche

-         Studi epigenetici molecolari su geni soggetti ad imprinting nel gamete femminile

-         Proprietà rigenerative delle cellule staminali amniotiche testate su modelli animali sperimentali

 

ATTIVITA' SCIENTIFICA

Complessivamente le ricerche svolte dalla Prof. Alessia Colosimo si sono concretizzate nella pubblicazione di 4 capitoli di libri e oltre 70 pubblicazioni scientifiche su riviste nazionali ed internazionali, di cui 60 citate sul "service" della "U.S. National Library of Medicine" (Pub Med).

 

PUBBLICAZIONI su Riviste Scientifiche Internazionali (peer-review)

  1. D'Agruma L, Colosimo A, Angeloni U, Novelli G, Dallapiccola B. Plasmid DNA and low-frequency electromagnetic fields.  Biomed e Pharmacother, 47: 101-105, 1993.
  2. Pizzuti A, Gennarelli M, Novelli G, Colosimo A, Lo Cicero S, Caskey CT, Dallapiccola B. Human elongation factor EF-1: cloning and characterization of the EF 15a gene and assignment of EF-1 isoforms to chromosomes 2,5,15 and X. Biochem Biophys Res Comm,197: 154-162, 1993.
  3. Pizzuti A, Colosimo A, Ratti A, et al. Identification of multiple transcribed sequences from the spinal muscular atrophy region on human chromosome 5. Bioch Biophys Res Comm:206, 294,1995.
  4. Massari A, Novelli G, Colosimo A, et al. Non invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.  Human Genet, 97: 150-155, 1996.
  5. Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, et al. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.  Am J Hum Genet, 58:722-729, 1996.
  6. Pizzuti A, Amati F, Calabrese G, Mari A, Colosimo A, et al. cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene.  Hum Mol Genet, 5 (7): 953-958, 1996.
  7. Colosimo A, Novelli G, Cavicchini A, Dallapiccola B. Detection of eight b-thalassemia mutations using a DNA enzyme immunoassay.  Int J Clin Lab Res, 26: 136-139, 1996.
  8. Colosimo A, Calabrese G, Gennarelli M, Ruzzo AM, Sangiuolo F. Magnani M, Palka G, Novelli G, Dallapiccola B. Assignment of hexokinase type 3 (HK3) gene to human chromosome band 5q35.3 by somatic cell hybrid and in situ hybridization. Cytogenet Cell Genet, 74: 187-188, 1996.
  9. Novelli G, Amati F, Mari A, Conti E, Bengala M, Telez Sedano M, Colosimo A, Sangiuolo F, Scarpino S, Novelli A, Sabani M, Caiola A, Mingarelli R, Pizzuti A, Dallapiccola B.  The molecular genetics of the DiGeorge syndrome.  Int J Immun Pharmac,10: 2 (S) 21-23, 1997.
  10. Colosimo A, Scarpino S, Sangiuolo F, Di Sario S, Mossa G, Novelli G, Dallapiccola B. Recombinant CFTR detection in CF tracheal epithelial cells following in vitro liposome-mediated gene transfer.  Biochem Mol Biol Int, 42 (4): 723-729, 1997.
  11. Novelli G, Mari A, Amati F, Colosimo A, Sangiuolo F, Bengala M, Conti E, Ratti A, Bordoni R, Pizzuti A, Baldini A, Pandolfi F, Magnani M, Dallapiccola B.  Stucture and expression of the human ubiquitin fusion-degradation gene (UFD1lL). Bioch Biophys Acta, 1396: 158-162, 1998.
  12. Colosimo A,. Sangiuolo F, Di Sario S, Amicucci P, Serafino A, Novelli A, Sabani M, Castro M, Lucidi V, Mossa G, Dallapiccola B, Novelli G.  Current status of cationic liposome-mediated gene therapy in cystic fibrosis.  Acta Pharm, 4: 221-303, 1998.
  13. Serafino AL, Novelli G, Di Sario S, Colosimo A, Amicucci P, Sangiuolo F, Mossa G, Dallapiccola B. Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene.  Biochem Mol Biol Int, 47 (2): 337-344, 1999.
  14. Colosimo A, Xu Z, Novelli G, Dallapiccola B, Gruenert DC  Simple version of "megaprimer" PCR for site-directed mutagenesis.  BioTechniques, 26: 870-873, 1999.
  15. Colosimo A, Serafino A, Sangiuolo F, Di Sario S, Bruscia E, Amicucci P, Novelli G, Dallapiccola B. Mossa G. Gene transfection efficiency of tracheal epithelial cells by Dc-Chol-DOPE/DNA complexes.  Bioch Biophys Acta, 1419: 186-194, 1999.
  16. Colosimo A,Goncz KK, Kunzelmann K, Novelli G, Malone RW, Bennet MJ, Gruenert DC. Transfer and expression of foreign genes in mammalian cells. BioTechniques, 29(2):314-8, 320-2, 324 passim, 2000.
  17. Colosimo A, Goncz KK, Novelli G, Dallapiccola B, Gruenert DC. Targeted replacement of a defective selectable gene marker by small DNA fragments.  Mol Ther. 2001 Feb;3(2):178-85.
  18. Goncz KK, Colosimo A, Dallapiccola B, Gagné L, Hong K, Novelli G, Papahadjoupolos D, Sawa T, Schreier H, Weiner-Kronish J, Xu Z, Gruenert DC. Expression of DF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR. Gene Ther 2001, 8 (12): 961-5.
  19. Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. Reliability of DHPLC in mutational screening of B-globin (HBB) alleles. Hum Mutat: 19: 287-295 (2002).
  20. Gruenert DC, Novelli G, Dallapiccola B, Colosimo A. Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy. Gene Ther. 2002 Jun;9(11):653-7.
  21. Colosimo A, Guida V, Palka G, Dallapiccola B. Extrachromosomal genes: a powerful tool in gene targeting approaches. Gene Ther 2002 Jun; 9(11):679-82.
  22. Flex E, Mangino M, Mazzoli M, Martini A, Migliosi V, Colosimo A, Mingarelli R, Pizzuti A, Dallapiccola B. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. J Med Genet,  40:278-282 (2003).
  23. Colosimo A, Guida V, Rigoli L., Di Bella C, De Luca A, Briuglia S, Stuppia L, Salpietro D.C. Dallapiccola B: Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat 21 (6): 622-629 (2003).
  24. Colosimo A, Guida V, Flex E, Dallapiccola B. Use of DHPLC for rapid screening of recombinant clones. Biotechniques Apr; 34 (4):706-8 (2003).
  25. Gruenert DC, Bruscia E, Novelli G, Colosimo A, Sangiuolo F, Dallapiccola B, Goncz KK. Sequence-specific modification of genomic DNA by small DNA fragments. J Clin Invest 112: 637-641 (2003).
  26. Stuppia L, Gatta V, Scarciolla O, Colosimo A, Guanciali-Franchi P, Calabrese G, Palka G. Methylenetethrahydrofolate reductase (MTHFR) 677t allele and male infertility in Italy J Endocrin Invest 26: 620-622, (2003).
  27. Colosimo A, Guida V, Scolari A., De Luca A, Palka G, Rigoli L., Meo A., Salpietro D.C. Dallapiccola B. Validation of DHPLC for molecular diagnosis of beta-thalassemia in Southern Italy. Genet Test 7(3) (2003)..
  28. Stuppia L, Di Fulvio P, Pintor S, Aceto G, Veschi S,  Gatta V, Colosimo A,  Cianchetti E, Cama A, Battista P, Mariani Costantini R, Palka.G. Molecular analysis of BRCA1/BRCA2 mutations in 68 families with Breast or Ovarian Cancer from Central Italy. Hum Mutat 22(2):178-179 (2003)..
  29. Xu Z, Colosimo A, Gruenert DC. Site-directed mutagenesis using the megaprimer method. Methods Mol Biol. 235:203-7. (2003).
  30. Torrente I, Arturi F, D'Aloiso L, Colosimo A, De Luca A, Ferretti E, Russo D, Chiefari E, Scarpelli D, Risceglie M, Dallapiccola B, Filetti S. Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma. J Endocrinol Invest 27:111-116 (2004). 
  31. Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi M, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Laganà C, Stuppia L, Sabatino G, Palka G: Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis Am J Med Genet 127A: 144-148 (2004).
  32. Guida V, Colosimo A, Fiorito M, Foglietta E, Grisanti P, Bianco I, Ivaldi G, Fichera M, Dallapiccola B: Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias. Clin Chem 50 (7):1242-1245 (2004).
  33. Pigullo S, De Luca A, Di Maria E, Marchese R, Bellone E, Colosimo A, Scaglione C, Barone P, Martinelli P, Pizzuti A, Abbruzzese G, Dallapiccola B, Ajmar F, Mandich P. Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor Parkinsonism Relat Disord. Aug;10(6):357-62.) (2004).
  34. Gruenert DC, Kunzelmann K, Novelli G, Colosimo A, Kapsa R, Bruscia E. Oligonucleotide-based gene targeting approaches. Oligonucleotides 14(2):157-158; author reply 158-160 (2004).
  35. Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Palka C, Rafani A,  Rinaldi R, Tiboni G, Venturoli A, Ferlini A, Torrente  I, Grammatico P, Calzolari E, Dallapiccola B. Screening of mutations in the CFTR gene in 1195 couples  entering assisted reproduction technique programs Eur J Hum Genet Aug;13(8):959-64 (2005).
  36. Guida V*, Colosimo A*, Fichera M, Lombardo T, Rigoli L, Dallapiccola B. Hematologic and molecular characterization of a Sicilian cohort of a-thalassemia carriers. Haematologica  91(3):123-24 (2006).
  37. Amato A, Cappabianca MP, Ponzini D, Di Biagio P, Colosimo A, Guida V, Mastropietro F, Foglietta E, Grisanti P,  Rinaldi S, Dallapiccola B, Bianco I. Detection of a rare beta-globin nonsense mutation [codon 59 (AAG →TAG)] in an Italian family. Hemoglobin. Aug;30(3):405-7 (2006).
  38. Guida V, Cappabianca MP, Colosimo A, Rafanelli F, Amato A, Dallapiccola B. Influence of Gg -158 C-T and beta-(AT)x(T)y globin genes polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects. Haematologica. 91(9):1275-6 (2006).
  39. Colosimo A, Guida V, Antonucci I, Bonfini T, Stuppia L, Dallapiccola B.  Sequence-specific modification of the b-globin locus by small DNA fragments in human erythroid progenitor cells. Haematologica Jan;92(1):129-30 (2007).
  40. Fiorito M, Torrente I, De Cosmo S, Guida V, Colosimo A, Prudente S, Flex E, Meneghini R, Miccoli R, Penno G, Pellegrini F, Tassi V, Federici M, Trischitta V, Dallapiccola B. Interaction of DIO2 T92A and PPARg2 P12A polymorphisms in the modulation of metabolic syndrome. Obesity 15: 2889- 2895 (2007).
  41. Colosimo A, Di Rocco G, Curini V, Russo V, Capacchietti G, Berardinelli P, Mattioli M, Barboni B. Characterization of the methylation status of five imprinted genes in sheep gametes Animal Genetics 40:(6): 900-908  (2009).
  42. Salerno A, Oliviero M, Di Maio E, Netti P, Rofani C, Colosimo A, Guida V, Dallapiccola B, Palma P, Procaccini E, Berardi AC, Velardi F, Teti A, Iannace S. Design of novel three-phase PCL/TZ-HA biomaterials for use in bone regeneration applications. J Mater Sci Mater Med. Sep;21(9):2569-81 (2010).  
  43. Cappabianca MP, Colosimo A, Perri M, Grisanti P, Zaghis I, Amato A, Lerone M., Ponzini D. Current genetic epidemiology of b-thalassaemias and other haemoglobin disorders in the Latium region (Italy) following recent migration movements. Advances in Hematology ID 317542 (2010).
  44. Colosimo A, Gatta G, Guida V, Leodori E, Foglietta E, Rinaldi S, Cappabianca MP, Amato A, Stuppia L, Dallapiccola B. Application of MLPA assay to characterize unsolved a-globin gene rearrangements Blood Cells Mol Dis. 2011 Feb 15;46(2):139-44. Epub 2010 Dec 28
  45. Mattioli M, Gloria A, Turriani M, Mauro A, Curini V, Russo V , Tetè S, Marchisio M, Pierdomenico L,  Berardinelli P, Colosimo A, Muttini A, Valbonetti L, Barboni B.  Stemness characteristics and osteogenic potential of sheep amniotic epithelial cells. Cell Biol Int. 2011 Aug 31. [Epub ahead of print]. 2012 Jan 1;36(1):7-19
  46. Curini V, Colosimo A, Mauro A, Turriani M, Gloria A, Mattioli M, Barboni B. Nucleofection of ovine amniotic fluid-derived mesenchymal stem cells. Vet Res Commun (2011) 35:559-569.
  47. Barboni B, Russo V, Cecconi S, Curini V, Colosimo A, Garofalo ML, Capacchietti G, Di Giacinto O, Mattioli M. In vitro grown sheep preantral follicles yield oocytes with normal nuclear-epigenetic maturation. PLoS One. 2011;6(11):e27550. Epub 2011 Nov 21.
  48. Colosimo A, Curini V, Russo V, Mauro A, Bernabò N, Marchisio M, Alfonsi M, Muttini A, Mattioli M., Barboni B. Characterization, GFP gene nucleofection and allotransplantation in injured tendons of ovine amniotic fluid-derived stem cells. Cell Transplant. 2013;22(1):99-117. Epub 2012 Apr 10.
  49. Muttini A, Valbonetti L, Abate M, Colosimo A, Curini V, Mauro A, Berardinelli P, Russo V, Cocciolone D, Marchisio M, Mattioli M, Tosi U, Podaliri Vulpiani M, Barboni B. Ovine amniotic epithelial cells: In vitro characterization and transplantation into equine superficial digital flexor tendon spontaneous defects.Res Vet Sci. 2012 Sep 3. [Epub ahead of print]
  50. Colosimo A, Russo V, Mauro A, Curini V, Marchisio M, Bernabò N, Alfonsi M, Mattioli M, Barboni B. Prolonged in vitro expansion partially affects phenotypical features and osteogenic potential of ovine amniotic fluid-derived mesenchymal stem cells. Cytotherapy. 2013 Aug;15(8):930-50.
  51. Amato A, Cappabianca MP, Lerone M, Colosimo A, Grisanti P, Ponzini D, Di Biagio P, Perri M, Gianni D, Rinaldi S, Piscitelli R. Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy. J Community Genet. 2014 Jul;5(3):265-8.
  52. Barboni B, Russo V, Curini V, Martelli A, Berardinelli P, Mauro A, Mattioli M, Marchisio M, Bonassi Signoroni P, Parolini O, Colosimo A. Gestational stage affects amniotic epithelial cells phenotype, methylation status, immunomodulatory and stemness properties.Stem Cell Rev. 2014 Oct;10(5):725-41.
  53. Colosimo A, Rofani C, Ciraci E, Salerno A, Oliviero M, Maio ED, Iannace S, Netti PA, Velardi F, Berardi AC. Osteogenic differentiation of CD271(+) cells from rabbit bone marrow cultured on three phase PCL/TZ-HA bioactive scaffolds: comparative study with mesenchymal stem cells (MSCs) Int J Clin Exp Med 2015 Aug 15; 8(8):13154-62.
  54. Ancora M, Orsini M, Colosimo A, Marcacci M, Russo V, De Santo M, D'Aurora M, Stuppia L, Barboni B, Cammà C, Gatta V. Complete sequence of human mitochondrial DNA obtained by combining multiple displacement amplification and next-generation sequencing on a single oocyte. Mitochondrial DNA. A DNA Mapp Seq Anal 2016 Feb 24:1-2
  55. Parafioriti A, Bason C, Armiraglio E, Calciano L, Daolio PA, Berardocco M, Di Bernardo A, Colosimo A, Luksch R, Berardi AC. Ewing's Sarcoma: An Analysis of miRNA Expression Profiles and Target Genes in Paraffin-Embedded Primary Tumor Tissue. Int J Mol Sci 2016 Apr 30;17(5). pii: E656.
  56. Cappabianca MP, Colosimo A, Sabatucci A, Dainese E, Di Biagio P, Piscitelli R, Sarra O, Zei D, Amato A. A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant. Hemoglobin. 2017 Jan;41(1):53-55. doi: 10.1080/03630269.2017.1302469.

  57. Di Giacomo V, Berardocco M, Gallorini M, Oliva F, Colosimo A, Cataldi A, Maffulli N, Berardi AC. Combined supplementation of ascorbic acid and thyroid hormone T3 affects tenocyte proliferation. The effect of ascorbic acid in the production of nitric oxide. Muscles Ligaments Tendons J. 2017 May 10;7(1):11-18. doi: 10.11138/mltj/2017.7.1.01

 

Riviste Scientifiche Nazionali                     

 

1. Novelli G, Lucidi V, Colosimo A, Sangiuolo F, Castro M, Dallapiccola B.  La diagnosi molecolare della Fibrosi Cistica.  Quaderni ACP: vol. V, n.1, 46-49 (1998).

 

 

CAPITOLI DI LIBRI

                                  

1. La terapia genica: fantasia o realtà ? L'Arco di Giano, numero 29, autunno 2001.

2. Utilizzo delle cellule staminali in terapia cellulare e genica. La placenta: Biologia e clinica. CIC
    edizioni internazionali, Roma 2003.

3. Voce "Terapia genica" 2007."Enciclopedia di Bioetica e Scienza Giuridica", ESI, Napoli

4. Colosimo A. "Genetica dei tumori cutanei non melanocitici" in "I tumori cutanei maligni di
     interesse ORL" a cura di L.R. D'Ottavi "Associazione otorinolaringologi ospedalieri italiani"
     XXXIII Convegno Nazionale di Aggiornamento Acireale, 22-23 Ottobre 2009

 

 

Curriculum english version

CURRICULUM VITAE ET STUDIORUM

 

1992: Master's Science Degree in Biology, University of Florence, Italy

1999: PhD in Medical Genetics, University of Rome, Tor Vergata. Research Topic: Novel approaches of gene therapy for Cystic Fibrosis.

2000: Research Associate in Applied Biology (E06X) University of Chieti, Italy. 2004: Associate Professor in Medical Genetics (06/A1) (MED/03), University of Teramo, Italy.

2002-2004: Member of the Academic Board of the Doctorate Course in "Robotica ed innovazioni informatiche applicate alle scienze chirurgiche", University of  "Tor Vergata", Rome, Italy.

2004-2014: Member of the Academic Board of the Doctorate Course in "Cellular and Molecular Biotechnology", University of Teramo, Italy.

2015-2021: Programme Director of the Second Level Degree Course in Reproductive Biotechnologies, University of Teramo

 

AWARDS

1994: Fellowship for best research communication (IX National Meeting FISME, Spoleto, Italy) 1996: Fellowship for best research communication (XI National Meeting FISME, Spoleto, Italy) 1999:TELETHON Fellowship for Young Italian Researcher Abroad. Title of the Project (393/b): "Optimization of small fragment homologous replacement (SFHR) technique".

PROFESSIONAL EXPERIENCE ABROAD:

1998-2000: PhD fellow and Post-Doc, Cardiovascular Research Institute, University of California UCSF, San Francisco, USA.  Tutor: Professor Dieter C Gruenert.

EXTERNAL SCIENTIFIC COLLABORATIONS:

2000-at present: CSS-Mendel Institute, Rome, Italy.

2000-at present: Laboratory of Human Molecular Genetics, University of California UCSF, S.Francisco USA.

2000-at presenti: Centro di Microcitemia ANMI, Roma, Italy.

PROFESSIONAL AND SCIENTIFIC APPOINTMENTS

2001: Co-chair of the International Meeeting "Genome medicine: gene therapy for the millennium".Rome, 30 September -3 October, 2001.

2002: Co-Chair Workshop6: Gene Therapy update. 25th Congress European Cystic Fibrosis Society. Genoa, 20-23 June 2002.

2000-present: Invited Reviewer for International: BioTechniques, Human Mutation, Clinical Chemistry; The Faseb Journal; Journal of Gene Medicine; Oligonucleotides, BioTechniques, BMC Biotechnology; Malaysian Journal of Medical Sciences.

2010-present: Member of Editorial Board of the "World Journal of Hematology"

PATENT OWNERSHIP:

2001: U.S. Patent Application n. 09/794,689 "Expression vector system and a method for optimization and confirmation of DNA delivery and quantification of targeting frequency"

SCIENTIFIC SOCIETY MEMBERSHIP:

1994-1998: Associazione Italiana di Genetica Medica (AIGM).

1998- present: Società Italiana di Genetica Umana (SIGU).

2010- present: StemTech Association.

RESEARCH ACTIVITY:

Main Research areas of interest:

-         Applied biotechnology for characterization of monogenic mendelian diseases

-         Applied biotechnology for the identification of causative mutations of mendelian disorders

-         Non viral gene therapy for mendelian diseases

-         Isolation, characterization and use of hematopoietic stem cells on biodegradabile scaffolds

-         Molecular epigenetic studies on imprinted genes in female gametes

-         Regenerative properties of amniotic stem cells on experimental models

Pubblicazioni

PRODUZIONE SCIENTIFICA

 

Riviste Scientifiche Internazionali (con IF)

 

  1. D'Agruma L, Colosimo A, Angeloni U, Novelli G, Dallapiccola B. Plasmid DNA and low-frequency electromagnetic fields.  Biomed e Pharmacother, 47: 101-105, 1993.
  2. Pizzuti A, Gennarelli M, Novelli G, Colosimo A, Lo Cicero S, Caskey CT, Dallapiccola B. Human elongation factor EF-1: cloning and characterization of the EF 15a gene and assignment of EF-1 isoforms to chromosomes 2,5,15 and X. Biochem Biophys Res Comm,197: 154-162, 1993.
  3. Pizzuti A, Colosimo A, Ratti A, et al. Identification of multiple transcribed sequences from the spinal muscular atrophy region on human chromosome 5. Bioch Biophys Res Comm:206, 294,1995.
  4. Massari A, Novelli G, Colosimo A, et al. Non invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells.  Human Genet, 97: 150-155, 1996.
  5. Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, et al. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.  Am J Hum Genet, 58:722-729, 1996.
  6. Pizzuti A, Amati F, Calabrese G, Mari A, Colosimo A, et al. cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene.  Hum Mol Genet, 5 (7): 953-958, 1996.
  7. Colosimo A, Novelli G, Cavicchini A, Dallapiccola B. Detection of eight b-thalassemia mutations using a DNA enzyme immunoassay.  Int J Clin Lab Res, 26: 136-139, 1996.
  8. Colosimo A, Calabrese G, Gennarelli M, Ruzzo AM, Sangiuolo F. Magnani M, Palka G, Novelli G, Dallapiccola B. Assignment of hexokinase type 3 (HK3) gene to human chromosome band 5q35.3 by somatic cell hybrid and in situ hybridization. Cytogenet Cell Genet, 74: 187-188, 1996.
  9. Novelli G, Amati F, Mari A, Conti E, Bengala M, Telez Sedano M, Colosimo A, Sangiuolo F, Scarpino S, Novelli A, Sabani M, Caiola A, Mingarelli R, Pizzuti A, Dallapiccola B.  The molecular genetics of the DiGeorge syndrome.  Int J Immun Pharmac,10: 2 (S) 21-23, 1997.
  10. Colosimo A, Scarpino S, Sangiuolo F, Di Sario S, Mossa G, Novelli G, Dallapiccola B. Recombinant CFTR detection in CF tracheal epithelial cells following in vitro liposome-mediated gene transfer.  Biochem Mol Biol Int, 42 (4): 723-729, 1997.
  11. Novelli G, Mari A, Amati F, Colosimo A, Sangiuolo F, Bengala M, Conti E, Ratti A, Bordoni R, Pizzuti A, Baldini A, Pandolfi F, Magnani M, Dallapiccola B.  Stucture and expression of the human ubiquitin fusion-degradation gene (UFD1lL). Bioch Biophys Acta, 1396: 158-162, 1998.
  12. Colosimo A,. Sangiuolo F, Di Sario S, Amicucci P, Serafino A, Novelli A, Sabani M, Castro M, Lucidi V, Mossa G, Dallapiccola B, Novelli G.  Current status of cationic liposome-mediated gene therapy in cystic fibrosis.  Acta Pharm, 4: 221-303, 1998.
  13. Serafino AL, Novelli G, Di Sario S, Colosimo A, Amicucci P, Sangiuolo F, Mossa G, Dallapiccola B. Cellular uptake and delivery monitoring of liposome/DNA complexes during in vitro transfection of CFTR gene.  Biochem Mol Biol Int, 47 (2): 337-344, 1999.
  14. Colosimo A, Xu Z, Novelli G, Dallapiccola B, Gruenert DC  Simple version of "megaprimer" PCR for site-directed mutagenesis.  BioTechniques, 26: 870-873, 1999.
  15. Colosimo A, Serafino A, Sangiuolo F, Di Sario S, Bruscia E, Amicucci P, Novelli G, Dallapiccola B. Mossa G. Gene transfection efficiency of tracheal epithelial cells by Dc-Chol-DOPE/DNA complexes.  Bioch Biophys Acta, 1419: 186-194, 1999.
  16. Colosimo A,Goncz KK, Kunzelmann K, Novelli G, Malone RW, Bennet MJ, Gruenert DC. Transfer and expression of foreign genes in mammalian cells. BioTechniques, 29(2):314-8, 320-2, 324 passim, 2000.
  17. Colosimo A, Goncz KK, Novelli G, Dallapiccola B, Gruenert DC. Targeted replacement of a defective selectable gene marker by small DNA fragments.  Mol Ther. 2001 Feb;3(2):178-85.
  18. Goncz KK, Colosimo A, Dallapiccola B, Gagné L, Hong K, Novelli G, Papahadjoupolos D, Sawa T, Schreier H, Weiner-Kronish J, Xu Z, Gruenert DC. Expression of DF508 CFTR in normal mouse lung after site-specific modification of CFTR sequences by SFHR. Gene Ther 2001, 8 (12): 961-5.
  19. Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. Reliability of DHPLC in mutational screening of B-globin (HBB) alleles. Hum Mutat: 19: 287-295 (2002).
  20. Gruenert DC, Novelli G, Dallapiccola B, Colosimo A. Genome medicine: gene therapy for the millennium, 30 September-3 October 2001, Rome, Italy. Gene Ther. 2002 Jun;9(11):653-7.
  21. Colosimo A, Guida V, Palka G, Dallapiccola B. Extrachromosomal genes: a powerful tool in gene targeting approaches. Gene Ther 2002 Jun; 9(11):679-82.
  22. Flex E, Mangino M, Mazzoli M, Martini A, Migliosi V, Colosimo A, Mingarelli R, Pizzuti A, Dallapiccola B. Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. J Med Genet,  40:278-282 (2003).
  23. Colosimo A, Guida V, Rigoli L., Di Bella C, De Luca A, Briuglia S, Stuppia L, Salpietro D.C. Dallapiccola B: Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat 21 (6): 622-629 (2003).
  24. Colosimo A, Guida V, Flex E, Dallapiccola B. Use of DHPLC for rapid screening of recombinant clones. Biotechniques Apr; 34 (4):706-8 (2003).
  25. Gruenert DC, Bruscia E, Novelli G, Colosimo A, Sangiuolo F, Dallapiccola B, Goncz KK. Sequence-specific modification of genomic DNA by small DNA fragments. J Clin Invest 112: 637-641 (2003).
  26. Stuppia L, Gatta V, Scarciolla O, Colosimo A, Guanciali-Franchi P, Calabrese G, Palka G. Methylenetethrahydrofolate reductase (MTHFR) 677t allele and male infertility in Italy J Endocrin Invest 26: 620-622, (2003).
  27. Colosimo A, Guida V, Scolari A., De Luca A, Palka G, Rigoli L., Meo A., Salpietro D.C. Dallapiccola B. Validation of DHPLC for molecular diagnosis of beta-thalassemia in Southern Italy. Genet Test 7(3) (2003)..
  28. Stuppia L, Di Fulvio P, Pintor S, Aceto G, Veschi S,  Gatta V, Colosimo A,  Cianchetti E, Cama A, Battista P, Mariani Costantini R, Palka.G. Molecular analysis of BRCA1/BRCA2 mutations in 68 families with Breast or Ovarian Cancer from Central Italy. Hum Mutat 22(2):178-179 (2003)..
  29. Xu Z, Colosimo A, Gruenert DC. Site-directed mutagenesis using the megaprimer method. Methods Mol Biol. 235:203-7. (2003).
  30. Torrente I, Arturi F, D'Aloiso L, Colosimo A, De Luca A, Ferretti E, Russo D, Chiefari E, Scarpelli D, Risceglie M, Dallapiccola B, Filetti S. Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma. J Endocrinol Invest 27:111-116 (2004). 
  31. Guanciali-Franchi P, Calabrese G, Morizio E, Fantasia D, Colosimo A, Rinaldi M, Cristini L, Simonelli A, Lonardo F, Turci A, Zatterale A, Laganà C, Stuppia L, Sabatino G, Palka G: Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis Am J Med Genet 127A: 144-148 (2004).
  32. Guida V, Colosimo A, Fiorito M, Foglietta E, Grisanti P, Bianco I, Ivaldi G, Fichera M, Dallapiccola B: Denaturing HPLC-based assay for molecular screening of nondeletional mutations causing alpha-thalassemias. Clin Chem 50 (7):1242-1245 (2004).
  33. Pigullo S, De Luca A, Di Maria E, Marchese R, Bellone E, Colosimo A, Scaglione C, Barone P, Martinelli P, Pizzuti A, Abbruzzese G, Dallapiccola B, Ajmar F, Mandich P. Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor Parkinsonism Relat Disord. Aug;10(6):357-62.) (2004).
  34. Gruenert DC, Kunzelmann K, Novelli G, Colosimo A, Kapsa R, Bruscia E. Oligonucleotide-based gene targeting approaches. Oligonucleotides 14(2):157-158; author reply 158-160 (2004).
  35. Stuppia L, Antonucci I, Binni F, Brandi A, Grifone N, Colosimo A, De Santo M, Gatta V, Gelli G, Guida V, Majore S, Palka C, Rafani A,  Rinaldi R, Tiboni G, Venturoli A, Ferlini A, Torrente  I, Grammatico P, Calzolari E, Dallapiccola B. Screening of mutations in the CFTR gene in 1195 couples  entering assisted reproduction technique programs Eur J Hum Genet Aug;13(8):959-64 (2005).
  36. Guida V*, Colosimo A*, Fichera M, Lombardo T, Rigoli L, Dallapiccola B. Hematologic and molecular characterization of a Sicilian cohort of a-thalassemia carriers. Haematologica  91(3):123-24 (2006).
  37. Amato A, Cappabianca MP, Ponzini D, Di Biagio P, Colosimo A, Guida V, Mastropietro F, Foglietta E, Grisanti P,  Rinaldi S, Dallapiccola B, Bianco I. Detection of a rare beta-globin nonsense mutation [codon 59 (AAG →TAG)] in an Italian family. Hemoglobin. Aug;30(3):405-7 (2006).
  38. Guida V, Cappabianca MP, Colosimo A, Rafanelli F, Amato A, Dallapiccola B. Influence of Gg -158 C-T and beta-(AT)x(T)y globin genes polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects. Haematologica. 91(9):1275-6 (2006).
  39. Colosimo A, Guida V, Antonucci I, Bonfini T, Stuppia L, Dallapiccola B.  Sequence-specific modification of the b-globin locus by small DNA fragments in human erythroid progenitor cells. Haematologica Jan;92(1):129-30 (2007).
  40. Fiorito M, Torrente I, De Cosmo S, Guida V, Colosimo A, Prudente S, Flex E, Meneghini R, Miccoli R, Penno G, Pellegrini F, Tassi V, Federici M, Trischitta V, Dallapiccola B. Interaction of DIO2 T92A and PPARg2 P12A polymorphisms in the modulation of metabolic syndrome. Obesity 15: 2889- 2895 (2007).
  41. Colosimo A, Di Rocco G, Curini V, Russo V, Capacchietti G, Berardinelli P, Mattioli M, Barboni B. Characterization of the methylation status of five imprinted genes in sheep gametes Animal Genetics 40:(6): 900-908  (2009).
  42. Salerno A, Oliviero M, Di Maio E, Netti P, Rofani C, Colosimo A, Guida V, Dallapiccola B, Palma P, Procaccini E, Berardi AC, Velardi F, Teti A, Iannace S. Design of novel three-phase PCL/TZ-HA biomaterials for use in bone regeneration applications. J Mater Sci Mater Med. Sep;21(9):2569-81 (2010).  
  43. Cappabianca MP, Colosimo A, Perri M, Grisanti P, Zaghis I, Amato A, Lerone M., Ponzini D. Current genetic epidemiology of b-thalassaemias and other haemoglobin disorders in the Latium region (Italy) following recent migration movements. Advances in Hematology ID 317542 (2010).
  44. Colosimo A, Gatta G, Guida V, Leodori E, Foglietta E, Rinaldi S, Cappabianca MP, Amato A, Stuppia L, Dallapiccola B. Application of MLPA assay to characterize unsolved a-globin gene rearrangements Blood Cells Mol Dis. 2011 Feb 15;46(2):139-44. Epub 2010 Dec 28
  45. Mattioli M, Gloria A, Turriani M, Mauro A, Curini V, Russo V , Tetè S, Marchisio M, Pierdomenico L,  Berardinelli P, Colosimo A, Muttini A, Valbonetti L, Barboni B.  Stemness characteristics and osteogenic potential of sheep amniotic epithelial cells. Cell Biol Int. 2011 Aug 31. [Epub ahead of print]. 2012 Jan 1;36(1):7-19
  46. Curini V, Colosimo A, Mauro A, Turriani M, Gloria A, Mattioli M, Barboni B. Nucleofection of ovine amniotic fluid-derived mesenchymal stem cells. Vet Res Commun (2011) 35:559-569.
  47. Barboni B, Russo V, Cecconi S, Curini V, Colosimo A, Garofalo ML, Capacchietti G, Di Giacinto O, Mattioli M. In vitro grown sheep preantral follicles yield oocytes with normal nuclear-epigenetic maturation. PLoS One. 2011;6(11):e27550. Epub 2011 Nov 21.
  48. Colosimo A, Curini V, Russo V, Mauro A, Bernabò N, Marchisio M, Alfonsi M, Muttini A, Mattioli M., Barboni B. Characterization, GFP gene nucleofection and allotransplantation in
    injured tendons of ovine amniotic fluid-derived stem cells Cell Transplantation, 2012 Apr 10 [Epub ahead of print].
  49. Muttini A, Valbonetti L, Abate M, Colosimo A, Curini V, Mauro A, Berardinelli P, Russo V, Cocciolone D, Marchisio M, Mattioli M, Tosi U, Podaliri Vulpiani M, Barboni B. Ovine amniotic epithelial cells: In vitro characterization and transplantation into equine superficial digital flexor tendon spontaneous defects.Res Vet Sci. 2012 Sep 3. [Epub ahead of print]
  50. Colosimo A, Russo V, Mauro A, Curini V, Marchisio M, Bernabò N, Alfonsi M, Mattioli M, Barboni B. Prolonged in vitro expansion partially affects phenotypical features and osteogenic potential of ovine amniotic fluid-derived mesenchymal stem cells. Cytotherapy. 2013 Aug;15(8):930-50.
  51. Amato A, Cappabianca MP, Lerone M, Colosimo A, Grisanti P, Ponzini D, Di Biagio P, Perri M, Gianni D, Rinaldi S, Piscitelli R. Carrier screening for inherited haemoglobin disorders among secondary school students and young adults in Latium, Italy. J Community Genet. 2014 Jul;5(3):265-8.
  52. Barboni B, Russo V, Curini V, Martelli A, Berardinelli P, Mauro A, Mattioli M, Marchisio M, Bonassi Signoroni P, Parolini O, Colosimo A. Gestational stage affects amniotic epithelial cells phenotype, methylation status, immunomodulatory and stemness properties. Stem Cell Rev. 2014 Oct;10(5):725-41.
  53. Colosimo A, Rofani C, Ciraci E, Salerno A, Oliviero M, Maio ED, Iannace S, Netti PA, Velardi F, Berardi AC. Osteogenic differentiation of CD271(+) cells from rabbit bone marrow cultured on three phase PCL/TZ-HA bioactive scaffolds: comparative study with mesenchymal stem cells (MSCs) Int J Clin Exp Med 2015 Aug 15; 8(8):13154-62.
  54. Ancora M, Orsini M, Colosimo A, Marcacci M, Russo V, De Santo M, D'Aurora M, Stuppia L, Barboni B, Cammà C, Gatta V. Complete sequence of human mitochondrial DNA obtained by combining multiple displacement amplification and next-generation sequencing on a single oocyte. Mitochondrial DNA. A DNA Mapp Seq Anal 2016 Feb 24:1-2
  55. Parafioriti A, Bason C, Armiraglio E, Calciano L, Daolio PA, Berardocco M, Di Bernardo A, Colosimo A, Luksch R, Berardi AC. Ewing's Sarcoma: An Analysis of miRNA Expression Profiles and Target Genes in Paraffin-Embedded Primary Tumor Tissue. Int J Mol Sci 2016 Apr 30;17(5). pii: E656.

  56. Cappabianca MP, Colosimo A, Sabatucci A, Dainese E, Di Biagio P, Piscitelli R, Sarra O, Zei D, Amato A. A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant. Hemoglobin. 2017 Jan;41(1):53-55. doi: 10.1080/03630269.2017.1302469.

  57. Di Giacomo V, Berardocco M, Gallorini M, Oliva F, Colosimo A, Cataldi A, Maffulli N, Berardi AC. Combined supplementation of ascorbic acid and thyroid hormone T3 affects tenocyte proliferation. The effect of ascorbic acid in the production of nitric oxide. Muscles Ligaments Tendons J. 2017 May 10;7(1):11-18. doi: 10.11138/mltj/2017.7.1.01
  58. Taraschi A, Cimini C, Capacchietti G, Ramal-Sanchez M, Valbonetti L, Machado-Simoes J, Moussa F, Tagaram I, Mokh S, Al Iskandarani M, Colosimo A, Barboni B, Bernabò N. Two-Player Game in a Complex Landscape: 26S Proteasome, PKA, and Intracellular Calcium Concentration Modulate Mammalian Sperm Capacitation by Creating an Integrated Dialogue-A Computational Analysis. Int J Mol Sci 2020 Aug 29;21(17):6256. doi: 10.3390/ijms21176256.
  59. Oliva F, Gallorini ML, Antonetti Lamorgese Passeri C., Gissi C, Ricci A, Cataldi A, Colosimo A, Berardi AC. Conjugation with Methylsulfonylmethane Improves Hyaluronic Acid Anti-Inflammatory Activity in a Hydrogen Peroxide-Exposed Tenocyte Culture In Vitro Model. Int. J. Mol. Sci. 2020, 21(21), 7956; https://doi.org/10.3390/ijms21217956 (registering DOI).
  60. Taraschi A, Costanza Cimini, Colosimo A, Ramal-Sanchez M, Moussa F, Mokh S, Valbonetti L. Capacchietti G, Tagaram I, Bernabò N, Barboni B. Human Immune System Diseasome Networks and Female Oviductal Microenvironment: New Horizons to be Discovered. Front. Genet., 27 January 2022 | https://doi.org/10.3389/fgene.2021.795123
  61. Bernabò N, Cimini C, Moussa F, Taraschi A, Ramal-Sanchez M, Colosimo A, Capacchietti G, Mokh S, Valbonetti L, Tagaram I, Barboni B. Pre-treatment of swine oviductal epithelial cells with progesterone increases the sperm fertilizing ability in an IVF model (Animals 15 feb 2022)

 

Riviste Scientifiche Nazionali                     

 

1. Novelli G, Lucidi V, Colosimo A, Sangiuolo F, Castro M, Dallapiccola B.  La diagnosi molecolare della Fibrosi Cistica.  Quaderni ACP: vol. V, n.1, 46-49 (1998).

 

 

CAPITOLI DI LIBRI

                                  

1. La terapia genica: fantasia o realtà ? L'Arco di Giano, numero 29, autunno 2001.

2. Utilizzo delle cellule staminali in terapia cellulare e genica. La placenta: Biologia e clinica. CIC
    edizioni internazionali, Roma 2003.

3. Voce "Terapia genica" 2007."Enciclopedia di Bioetica e Scienza Giuridica", ESI, Napoli

4. Colosimo A. "Genetica dei tumori cutanei non melanocitici" in "I tumori cutanei maligni di
     interesse ORL" a cura di L.R. D'Ottavi "Associazione otorinolaringologi ospedalieri italiani"
     XXXIII Convegno Nazionale di Aggiornamento Acireale, 22-23 Ottobre 2009

 

 

Prodotti della ricerca

TITOLARITA' DI BREVETTI                      

2001: Brevetto U.S. Patent Application n. 09/794,689

"Expression vector system and a method for optimization and

confirmation of DNA delivery and quantification of targeting frequency"

 

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Ultimo aggiornamento: 06-02-2024