Gruppo Porfirio
Coordinator of Research Team
Name Berardino Porfirio
Position Associate Professor
Name of Research Team/Laboratory Human Genetics
e-mail berardino.porfirio@unifi.it
telephone number +39-055-2758422
Brief biographical sketch of the Coordinator
Associate Professor of Medical Genetics, University of Florence (since 2005). He was born in Rome, where he graduated and specialized. He was a student of the 1st Cycle of the Italian PhD Program “Dottorato di ricerca” and the projects for his thesis "DNA repair mechanisms in Fanconi anaemia: their bearing on mutation and cancer proneness" were partly developed in Paris at Curie Institute. His earlier work looked at the emerging form of chromosome instability represented by common fragile sites and then he moved to genome instability in head and neck, breast-ovarian, and lung cancer. Current research interests include: homogentisate dioxygenase gene haplotype and mutational analysis in alkaptonuria; genetic liability to lung cancer; anti-HLA antibodies in regenerative medicine stem cell therapy.
Assistant Professor of Human Genetics, School of Medicine, University of Florence (1992-2004) and former Director of the Laboratory of Immunogenetics and Transplant Biology (2005-2012), his clinical activity at Careggi University Hospital has centered around HLA typing. He has been working in the field since the nineties and in 2013 he was appointed to the Honorary Diploma in Histocompatibility and Immunogenetics - European Union’s Medical Specialisations Organisation, European Board for Transplant Immunology, Heidelberg University.
Since 1992 he has been offering courses of General, Human and Medical Genetics for students of the Schools of Medicine and of Psychology of the University of Florence. He teaches Immunogenetics at the Specialty Schools of Medical Genetics, Haematology, and Nephrology, University of Florence. He also offers courses at the 2nd level Master programs in Transfusion Medicine and in Metabolic Bone Diseases, University of Florence.
Referee of MIUR (Italian Education and Research Ministry) for the evaluation of research programs and results, he is Expert Reviewer of Orphanet, the portal of rare diseases and orphan drugs, since 2007. He also served as reviewer for a number of high-impact journals.
Member of the scientific board of the Doctorate/PhD Program in
Genetics, Oncology and Clinical Medicine (GenOMeC) University of Siena
Member of the following Scientific Societies
1) Società Italiana di Genetica Umana
2) European Society of Human Genetics
3) American Society of Human Genetics
4) Associazione Italiana Biologia dei Trapianti
5) European Foundation for Immunogenetics
Research Team
1) Pasquale Gallina, MD
2) Barbara Fossi, Master student
3) Agnese Patuelli, Master student
Current / recent sources of funding
Ricerca d’Ateneo
Coordinator of Research Team
Name Berardino Porfirio
Position Associate Professor
Name of Research Team/Laboratory Human Genetics
e-mail berardino.porfirio@unifi.it
telephone number +39-055-2758422
Brief biographical sketch of the Coordinator
Associate Professor of Medical Genetics, University of Florence (since 2005). He was born in Rome, where he graduated and specialized. He was a student of the 1st Cycle of the Italian PhD Program “Dottorato di ricerca” and the projects for his thesis "DNA repair mechanisms in Fanconi anaemia: their bearing on mutation and cancer proneness" were partly developed in Paris at Curie Institute. His earlier work looked at the emerging form of chromosome instability represented by common fragile sites and then he moved to genome instability in head and neck, breast-ovarian, and lung cancer. Current research interests include: homogentisate dioxygenase gene haplotype and mutational analysis in alkaptonuria; genetic liability to lung cancer; anti-HLA antibodies in regenerative medicine stem cell therapy.
Assistant Professor of Human Genetics, School of Medicine, University of Florence (1992-2004) and former Director of the Laboratory of Immunogenetics and Transplant Biology (2005-2012), his clinical activity at Careggi University Hospital has centered around HLA typing. He has been working in the field since the nineties and in 2013 he was appointed to the Honorary Diploma in Histocompatibility and Immunogenetics - European Union’s Medical Specialisations Organisation, European Board for Transplant Immunology, Heidelberg University.
Since 1992 he has been offering courses of General, Human and Medical Genetics for students of the Schools of Medicine and of Psychology of the University of Florence. He teaches Immunogenetics at the Specialty Schools of Medical Genetics, Haematology, and Nephrology, University of Florence. He also offers courses at the 2nd level Master programs in Transfusion Medicine and in Metabolic Bone Diseases, University of Florence.
Referee of MIUR (Italian Education and Research Ministry) for the evaluation of research programs and results, he is Expert Reviewer of Orphanet, the portal of rare diseases and orphan drugs, since 2007. He also served as reviewer for a number of high-impact journals.
Member of the scientific board of the Doctorate/PhD Program in
Genetics, Oncology and Clinical Medicine (GenOMeC) University of Siena
Member of the following Scientific Societies
1) Società Italiana di Genetica Umana
2) European Society of Human Genetics
3) American Society of Human Genetics
4) Associazione Italiana Biologia dei Trapianti
5) European Foundation for Immunogenetics
Research Team
1) Pasquale Gallina, MD
2) Barbara Fossi, Master student
3) Agnese Patuelli, Master student
Current / recent sources of funding
Ricerca d’Ateneo
Coordinator of Research Team
Name Berardino Porfirio
Position Associate Professor
Name of Research Team/Laboratory Human Genetics
e-mail berardino.porfirio@unifi.it
telephone number +39-055-2758422
Brief biographical sketch of the Coordinator
Associate Professor of Medical Genetics, University of Florence (since 2005). He was born in Rome, where he graduated and specialized. He was a student of the 1st Cycle of the Italian PhD Program “Dottorato di ricerca” and the projects for his thesis "DNA repair mechanisms in Fanconi anaemia: their bearing on mutation and cancer proneness" were partly developed in Paris at Curie Institute. His earlier work looked at the emerging form of chromosome instability represented by common fragile sites and then he moved to genome instability in head and neck, breast-ovarian, and lung cancer. Current research interests include: homogentisate dioxygenase gene haplotype and mutational analysis in alkaptonuria; genetic liability to lung cancer; anti-HLA antibodies in regenerative medicine stem cell therapy.
Assistant Professor of Human Genetics, School of Medicine, University of Florence (1992-2004) and former Director of the Laboratory of Immunogenetics and Transplant Biology (2005-2012), his clinical activity at Careggi University Hospital has centered around HLA typing. He has been working in the field since the nineties and in 2013 he was appointed to the Honorary Diploma in Histocompatibility and Immunogenetics - European Union’s Medical Specialisations Organisation, European Board for Transplant Immunology, Heidelberg University.
Since 1992 he has been offering courses of General, Human and Medical Genetics for students of the Schools of Medicine and of Psychology of the University of Florence. He teaches Immunogenetics at the Specialty Schools of Medical Genetics, Haematology, and Nephrology, University of Florence. He also offers courses at the 2nd level Master programs in Transfusion Medicine and in Metabolic Bone Diseases, University of Florence.
Referee of MIUR (Italian Education and Research Ministry) for the evaluation of research programs and results, he is Expert Reviewer of Orphanet, the portal of rare diseases and orphan drugs, since 2007. He also served as reviewer for a number of high-impact journals.
Member of the scientific board of the Doctorate/PhD Program in
Genetics, Oncology and Clinical Medicine (GenOMeC) University of Siena
Member of the following Scientific Societies
1) Società Italiana di Genetica Umana
2) European Society of Human Genetics
3) American Society of Human Genetics
4) Associazione Italiana Biologia dei Trapianti
5) European Foundation for Immunogenetics
Research Team
1) Pasquale Gallina, MD
2) Barbara Fossi, Master student
3) Agnese Patuelli, Master student
Current / recent sources of funding
Ricerca d’Ateneo
10 best publications of the last 5 years
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. PubMed PMID: 25804398; PubMed Central PMCID: PMC4795215.
Porfirio B, Sestini R, Gorelli G, Cordovana M, Mannoni A, Usher JL, Introne WJ, Gahl WA, Vilboux T. A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. JIMD Rep. 2016;30:45-52. Epub 2016 Mar 10. PubMed PMID: 26960557; PubMed Central PMCID: PMC5110449.
Gallina P, Scollato A, Conti R, Di Lorenzo N, Porfirio B. Aβ Clearance, "hub" of Multiple Deficiencies Leading to Alzheimer Disease. Front Aging Neurosci. 2015 Oct 20;7:200. doi: 10.3389/fnagi.2015.00200. eCollection 2015. Review. PubMed PMID: 26539110; PubMed Central PMCID: PMC4611243.
Ambrosini S, Sarchielli E, Comeglio P, Porfirio B, Gallina P, Morelli A, Vannelli GB. Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia. Neuroscience. 2015 Mar 19;289:123-33. doi: 10.1016/j.neuroscience.2014.12.073. Epub 2015 Jan 13. PubMed PMID: 25595970.
Porfirio B, Paganini M, Mazzanti B, Bagnoli S, Bucciantini S, Ghelli E, Nacmias B, Putignano AL, Rombolà G, Saccardi R, Lombardini L, Di Lorenzo N, Vannelli GB, Gallina P. Donor-Specific Anti-HLA Antibodies in Huntington's Disease Recipients of Human Fetal Striatal Grafts. Cell Transplant. 2015;24(5):811-7. doi: 10.3727/096368913X676222. Epub 2013 Dec 30. PubMed PMID: 24380491.
Paganini M, Biggeri A, Romoli AM, Mechi C, Ghelli E, Berti V, Pradella S, Bucciantini S, Catelan D, Saccardi R, Lombardini L, Mascalchi M, Massacesi L, Porfirio B, Di Lorenzo N, Vannelli GB, Gallina P. Fetal striatal grafting slows motor and cognitive decline of Huntington's disease. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):974-81. doi: 10.1136/jnnp-2013-306533. Epub 2013 Dec 17. PubMed PMID: 24347577; PubMed Central PMCID: PMC4145428.
Fasano ME, Rendine S, Pasi A, Bontadini A, Cosentini E, Carcassi C, Capittini C, Cornacchini G, Espadas de Arias A, Garbarino L, Carella G, Mariotti ML, Mele L, Miotti V, Moscetti A, Nesci S, Ozzella G, Piancatelli D, Porfirio B, Riva MR, Romeo G, Tagliaferri C, Lombardo C, Testi M, Amoroso A, Martinetti M. The distribution of KIR-HLA functional blocks is different from north to south of Italy. Tissue Antigens. 2014 Mar;83(3):168-73. doi: 10.1111/tan.12299. PubMed PMID: 24571475.
Gerini C, Dal Canto M, Porfirio B. High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation. Mol Cell Probes. 2014 Feb;28(1):19-24. doi: 10.1016/j.mcp.2013.09.001. Epub 2013 Sep 25. PubMed PMID: 24075878.
Badulli C, Sestini R, Sbarsi I, Baroncelli M, Pizzochero C, Martinetti M, Porfirio B. Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-B*57:01 typing for eligibility to abacavir treatment in the Italian population. Pharmacogenomics. 2012 Feb;13(3):247-9. doi: 10.2217/pgs.11.168. PubMed PMID: 22304574.
Gallina P, Paganini M, Lombardini L, Giordano G, Mascalchi M, Romoli AM, Ghelli E, Porfirio B, Vannelli GB, Di Lorenzo N. Progress in ristorative neurosurgery: human fetal striatal transplantation in Huntington's disease. Review. J Neurosurg Sci. 2011 Dec;55(4):371-81. Review. PubMed PMID: 22198589.
Main scientific contributions
- Cytogenetic characterization of chromosome instability syndromes
- Description of common fragile sites on normal human chromosomes
- Characterization of radiosensitive and radioresistant TP53 mutations in human cancers
- Characterization on genetic heterogeneity in nemaline miopathy
- Description of the mutational spectrum of HGD in alkaptonuria
- Detection and characterization of donor-specific anti-HLA antibodies in Huntington’s disease patients following human fetal striatal transplanation
10 best publications of the last 5 years
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. PubMed PMID: 25804398; PubMed Central PMCID: PMC4795215.
Porfirio B, Sestini R, Gorelli G, Cordovana M, Mannoni A, Usher JL, Introne WJ, Gahl WA, Vilboux T. A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. JIMD Rep. 2016;30:45-52. Epub 2016 Mar 10. PubMed PMID: 26960557; PubMed Central PMCID: PMC5110449.
Gallina P, Scollato A, Conti R, Di Lorenzo N, Porfirio B. Aβ Clearance, "hub" of Multiple Deficiencies Leading to Alzheimer Disease. Front Aging Neurosci. 2015 Oct 20;7:200. doi: 10.3389/fnagi.2015.00200. eCollection 2015. Review. PubMed PMID: 26539110; PubMed Central PMCID: PMC4611243.
Ambrosini S, Sarchielli E, Comeglio P, Porfirio B, Gallina P, Morelli A, Vannelli GB. Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia. Neuroscience. 2015 Mar 19;289:123-33. doi: 10.1016/j.neuroscience.2014.12.073. Epub 2015 Jan 13. PubMed PMID: 25595970.
Porfirio B, Paganini M, Mazzanti B, Bagnoli S, Bucciantini S, Ghelli E, Nacmias B, Putignano AL, Rombolà G, Saccardi R, Lombardini L, Di Lorenzo N, Vannelli GB, Gallina P. Donor-Specific Anti-HLA Antibodies in Huntington's Disease Recipients of Human Fetal Striatal Grafts. Cell Transplant. 2015;24(5):811-7. doi: 10.3727/096368913X676222. Epub 2013 Dec 30. PubMed PMID: 24380491.
Paganini M, Biggeri A, Romoli AM, Mechi C, Ghelli E, Berti V, Pradella S, Bucciantini S, Catelan D, Saccardi R, Lombardini L, Mascalchi M, Massacesi L, Porfirio B, Di Lorenzo N, Vannelli GB, Gallina P. Fetal striatal grafting slows motor and cognitive decline of Huntington's disease. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):974-81. doi: 10.1136/jnnp-2013-306533. Epub 2013 Dec 17. PubMed PMID: 24347577; PubMed Central PMCID: PMC4145428.
Fasano ME, Rendine S, Pasi A, Bontadini A, Cosentini E, Carcassi C, Capittini C, Cornacchini G, Espadas de Arias A, Garbarino L, Carella G, Mariotti ML, Mele L, Miotti V, Moscetti A, Nesci S, Ozzella G, Piancatelli D, Porfirio B, Riva MR, Romeo G, Tagliaferri C, Lombardo C, Testi M, Amoroso A, Martinetti M. The distribution of KIR-HLA functional blocks is different from north to south of Italy. Tissue Antigens. 2014 Mar;83(3):168-73. doi: 10.1111/tan.12299. PubMed PMID: 24571475.
Gerini C, Dal Canto M, Porfirio B. High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation. Mol Cell Probes. 2014 Feb;28(1):19-24. doi: 10.1016/j.mcp.2013.09.001. Epub 2013 Sep 25. PubMed PMID: 24075878.
Badulli C, Sestini R, Sbarsi I, Baroncelli M, Pizzochero C, Martinetti M, Porfirio B. Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-B*57:01 typing for eligibility to abacavir treatment in the Italian population. Pharmacogenomics. 2012 Feb;13(3):247-9. doi: 10.2217/pgs.11.168. PubMed PMID: 22304574.
Gallina P, Paganini M, Lombardini L, Giordano G, Mascalchi M, Romoli AM, Ghelli E, Porfirio B, Vannelli GB, Di Lorenzo N. Progress in ristorative neurosurgery: human fetal striatal transplantation in Huntington's disease. Review. J Neurosurg Sci. 2011 Dec;55(4):371-81. Review. PubMed PMID: 22198589.
Main scientific contributions
- Cytogenetic characterization of chromosome instability syndromes
- Description of common fragile sites on normal human chromosomes
- Characterization of radiosensitive and radioresistant TP53 mutations in human cancers
- Characterization on genetic heterogeneity in nemaline miopathy
- Description of the mutational spectrum of HGD in alkaptonuria
- Detection and characterization of donor-specific anti-HLA antibodies in Huntington’s disease patients following human fetal striatal transplanation
10 best publications of the last 5 years
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25. PubMed PMID: 25804398; PubMed Central PMCID: PMC4795215.
Porfirio B, Sestini R, Gorelli G, Cordovana M, Mannoni A, Usher JL, Introne WJ, Gahl WA, Vilboux T. A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. JIMD Rep. 2016;30:45-52. Epub 2016 Mar 10. PubMed PMID: 26960557; PubMed Central PMCID: PMC5110449.
Gallina P, Scollato A, Conti R, Di Lorenzo N, Porfirio B. Aβ Clearance, "hub" of Multiple Deficiencies Leading to Alzheimer Disease. Front Aging Neurosci. 2015 Oct 20;7:200. doi: 10.3389/fnagi.2015.00200. eCollection 2015. Review. PubMed PMID: 26539110; PubMed Central PMCID: PMC4611243.
Ambrosini S, Sarchielli E, Comeglio P, Porfirio B, Gallina P, Morelli A, Vannelli GB. Fibroblast growth factor and endothelin-1 receptors mediate the response of human striatal precursor cells to hypoxia. Neuroscience. 2015 Mar 19;289:123-33. doi: 10.1016/j.neuroscience.2014.12.073. Epub 2015 Jan 13. PubMed PMID: 25595970.
Porfirio B, Paganini M, Mazzanti B, Bagnoli S, Bucciantini S, Ghelli E, Nacmias B, Putignano AL, Rombolà G, Saccardi R, Lombardini L, Di Lorenzo N, Vannelli GB, Gallina P. Donor-Specific Anti-HLA Antibodies in Huntington's Disease Recipients of Human Fetal Striatal Grafts. Cell Transplant. 2015;24(5):811-7. doi: 10.3727/096368913X676222. Epub 2013 Dec 30. PubMed PMID: 24380491.
Paganini M, Biggeri A, Romoli AM, Mechi C, Ghelli E, Berti V, Pradella S, Bucciantini S, Catelan D, Saccardi R, Lombardini L, Mascalchi M, Massacesi L, Porfirio B, Di Lorenzo N, Vannelli GB, Gallina P. Fetal striatal grafting slows motor and cognitive decline of Huntington's disease. J Neurol Neurosurg Psychiatry. 2014 Sep;85(9):974-81. doi: 10.1136/jnnp-2013-306533. Epub 2013 Dec 17. PubMed PMID: 24347577; PubMed Central PMCID: PMC4145428.
Fasano ME, Rendine S, Pasi A, Bontadini A, Cosentini E, Carcassi C, Capittini C, Cornacchini G, Espadas de Arias A, Garbarino L, Carella G, Mariotti ML, Mele L, Miotti V, Moscetti A, Nesci S, Ozzella G, Piancatelli D, Porfirio B, Riva MR, Romeo G, Tagliaferri C, Lombardo C, Testi M, Amoroso A, Martinetti M. The distribution of KIR-HLA functional blocks is different from north to south of Italy. Tissue Antigens. 2014 Mar;83(3):168-73. doi: 10.1111/tan.12299. PubMed PMID: 24571475.
Gerini C, Dal Canto M, Porfirio B. High resolution melting analysis of deletion/insertion polymorphisms: A new method for the detection and quantification of mixed chimerism in allogeneic stem cell transplantation. Mol Cell Probes. 2014 Feb;28(1):19-24. doi: 10.1016/j.mcp.2013.09.001. Epub 2013 Sep 25. PubMed PMID: 24075878.
Badulli C, Sestini R, Sbarsi I, Baroncelli M, Pizzochero C, Martinetti M, Porfirio B. Tag SNPs of the ancestral haplotype 57.1 do not substitute HLA-B*57:01 typing for eligibility to abacavir treatment in the Italian population. Pharmacogenomics. 2012 Feb;13(3):247-9. doi: 10.2217/pgs.11.168. PubMed PMID: 22304574.
Gallina P, Paganini M, Lombardini L, Giordano G, Mascalchi M, Romoli AM, Ghelli E, Porfirio B, Vannelli GB, Di Lorenzo N. Progress in ristorative neurosurgery: human fetal striatal transplantation in Huntington's disease. Review. J Neurosurg Sci. 2011 Dec;55(4):371-81. Review. PubMed PMID: 22198589.
Main scientific contributions
- Cytogenetic characterization of chromosome instability syndromes
- Description of common fragile sites on normal human chromosomes
- Characterization of radiosensitive and radioresistant TP53 mutations in human cancers
- Characterization on genetic heterogeneity in nemaline miopathy
- Description of the mutational spectrum of HGD in alkaptonuria
- Detection and characterization of donor-specific anti-HLA antibodies in Huntington’s disease patients following human fetal striatal transplanation
Ultimo aggiornamento
29.12.2020