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Thomas Jefferson University - Paolo M. Fortina, MD, PhD
Paolo M. Fortina, MD, PhD

Cancer Biology
Thomas Jefferson University
Appointed: 2002

Department of Medical Oncology
Appointed 2011

Kimmel Cancer Center
Director, Cancer Genomics Laboratory
Appointed 2006

University of Pennsylvania School of Medicine
Adjunct Associate Professor of Pediatrics,
Department of Pediatrics,
The Children's Hospital of Philadelphia
Philadelphia, PA
Mailing Address
233 South 10th Street, BLSB 1009
Philadelphia, Pennsylvania 19107
United States
Contact Information
Phone: 215-955-0683
Fax: 215-503-9142
Personal Web Site
M.D., University of Turin School of Medicine, Turin, Italy, 1984
Ph.D., University of Turin School of Medicine, Turin, Italy, 1991

Research Fellow, The Children's Hospital of Philadelphia,
University of Pennsylvania School of Medicine, Philadelphia, PA, 1986-1988

Editorial Board: Molecular and Cellular Probes, 1994-2006
Section Editor: European Journal of Human Genetics, 1997-present
Communicating Editor: Human Mutation, 2000-present
Communicating Editor: Human Genomics and Proteomics, 2008-present
Board of Editor: Clinical Chemistry, 2011-present
Editorial Advisory Board: American Journal of Hematology, 2011-present
Expertise and Research Interests
I have been conducting human genetics research for over 25 years and my primary goals are focused on discovering and translating basic research findings into medical innovations for improved diagnostics. Some of the highlights include studies of the regulated expression of human globin genes, the contribution in identifying the connexin 26 gene being responsible for autosomal recessive non-syndromic neurosensory deafness, simultaneous typing of SNPs within and flanking the minimal deleted regions on chromosomal regions undergoing loss of heterozygosity using customized oligonucleotide-based tag-arrays, combinatorial sequencing-by-hybridization of APC and NF1 genes in patients with colorectal cancer and neurofibromatosis I, respectively, and genotyping on silicon-based chips with discrete, independently temperature-controlled islands. Closely related projects include generation of micro-machined devices for cell isolation, PCR and rapid analyte analysis.

Currently, active projects revolve around the use of custom-made microarray for targeted mRNA expression profiling such as the RB pathway signature as well as next-generation sequencing technology for whole transcriptome analysis of human platelets in patients with heparin induced-thrombocytopenia, whole exome sequencing of the Dravet syndrome and to profile the expression of short and long RNAs in normal and disease states including open angle glaucoma, uveal melanoma and pancreatic cancer.
Applied genomics, custom microarray, next-generation sequencing, whole transcriptome, exome sequencing, long and short non coding RNA, cancer.
English, Italian (native speaker)
  • Fortina P, Delgrosso K, Rappaport E, Poncz M, Ballas S, Schwartz E, Surrey S. A large deletion encompassing the entire a-like globin gene cluster in a family of northern European extraction. Nucleic Acids Research 23:11223-11235, 1988.
  • Fortina P, Delgrosso K, Werner E, Rappaport E, Schwartz E, Surrey S. A 200 kbp deletion removing the entire b-like globin gene cluster in a family of Irish descent. Hemoglobin 15: 23-41, 1991
  • Fortina P, Dianzani I, Serra A, Gottardi E, Saglio G, Farinasso L, Piga A, Gabutti V, Camaschella C. A newly-characterized a-thalassaemia-1 removes the entire a-like globin gene cluster in an Italian family. British Journal of Haematology 78: 529-534, 1991
  • Fortina P, Parrella T, Sartore M, Gottardi E, Gabutti V, Delgrosso K, Mansfield E, Rappaport E, Schwartz E, Camaschella C, Surrey S. Interaction of a rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of a thalassemia. Blood 83: 3356-3362, 1994
  • Mansfield ES, Veiner M, Enad S, Baker DL, Harris D, Rappaport E, Fortina P. Sensitivity, reproducibility and accuracy in short tandem repeat genotyping using capillary array electrophoresis. Genome Research 6: 893-903, 1996
  • Cheng J, Fortina P, Surrey S, Kricka LJ, Wilding P. Microchip-based devices for molecular diagnosis of genetic diseases. Molecular Diagnosis 1: 183-200, 1996
  • Gasparini P, Estivill X, Volpini V, Totaro A, Castellvi-Bel S, Govea N, Mila M, Della Monica M, Ventruto V, De Benedetto M, Stanziale P, Zelante L, Mansfield ES, Sandkuijl L, Surrey S, Fortina P. Linkage of DFNB1 to non-syndromic neurosensory autosomal recessive deafness in Mediterranean families. European Journal of Human Genetics, 5: 83-88, 1997
  • Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lutfi J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P. Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Human Molecular Genetics 6: 1605-1609, 1997.
  • Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Govea N, Mansfield E, Rappaport E, Govea N, Mila' M, Zelante L, Gasparini P. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351: 394-398, 1998
  • Wilding P, Kricka LJ, Cheng J, Hvichia G, Shoffner MA, Fortina P. Integrated cell isolation and PCR analysis using silicon microfilter-chambers. Analytical Biochemistry 257: 95-100, 1998
  • Cheng J, Waters LC, Fortina P, Hvichia G, Jacobson SC, Ramsey JM, Kricka LJ, Wilding P. Degenerate oligonucleotide primed-PCR and capillary electrophoretic analysis of human DNA on microchip-based devices. Analytical Biochemistry 257: 101-106, 1998
  • Graves DJ, Su HJ, McKenzie SE, Surrey S, Fortina P. System for preparing microhybridization arrays on glass slides. Analytical Chemistry 270: 5085-5092, 1998
  • Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X, and The Genetic Analysis Consortium of GJB2 35delG. High carrier frequency of the 35delG deafness mutation in European populations. European Journal of Human Genetics 8:19-23, 2000
  • Forabosco P, Collins A, Latiano A, Annese V, Clementi M, Andriulli A, Fortina P, Devoto M, Morton EM. Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterize Crohn's disease and ulcerative colitis. European Journal of Human Genetics 8:846-852, 2000
  • Yuen P-K, Kricka LJ, Fortina P, Panaro NJ, Sakazume T, Wilding P. Microchip module for blood sample preparation and nucleic acid amplification reactions. Genome Research 11:405-412, 2001
  • Cavanaugh JA, Bryce ME, Stanford PM, Pavli P, Vermeire S, Peeters M, Vlietinck R, Rutgeerts P, Rioux JD, Silverberg MS, Steinhart AH, Siminovitch KA, Hugot JP, Lesage S, Zouali H, Paavola P, Halme L, Färkkila M, Kontula K, Annese V, Forabosco P, Fortina P, Latiano A, van Heel D, Parkes M, Lench N, Jewell D, Brant SR, Bailey-Wilson JE, Panhuysen CIM, Bayless TM, Cho JH, Bonen DK, Kirschner BS, Hanauer SB, Yang H, Taylor K, Targan SR, Rotter JI, Silver J, Gulwani-Akolkar B, Akolkar P, Lin X-Y, Duerr RH, Zhang L, Achkar JP, Baldassano RN, Daly MJ, Risch N. International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn's disease and chromosome 16. American Journal of Human Genetics 68:165-171, 2001
  • Kricka LJ, Fortina P, Panaro N, Wilding P, Alonso-Amigo G, Becker H. Fabrication of plastic microchips by hot embossing. Lab on a chip 2: 1-4 2002
  • Su H-J, Surrey S, McKenzie SE, Fortina P, Graves DJ. Kinetics of heterogeneous hybridization on indium tin oxide surfaces with and without an applied potential. Electrophoresis 23: 1551-1557, 2002
  • Bason L, Dudley T, Lewis K, Shah U, Potsic W, Ferraris A, Fortina P, Rappaport E, Krantz DI. Homozygosity for the V37I connexin 26 mutation in two unrelated children with sensorineural hearing loss. Clinical Genetic 61: 459-464, 2002
  • Fortina P, Surrey S, Kricka LJ. Molecular diagnostics: hurdles for clinical implementation. Trends in Molecular Medicine 8: 264-266, 2002
  • Ferraris A, Rappaport E, Santacroce R, Pollak E, Krantz I, Toth S, Margaglione M, Restagno G, Dallapiccola B, Surrey S, Fortina P. Pyrosequencing analysis for detection of mutations associated with hereditary hearing loss in the connexin 26 gene and mitochondrial DNA. Human Mutation 20:312-320, 2002
  • Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, Margaglione M, Seri M, Ravazzolo R, Restagno G, Dallapiccola B, Rappaport E, Pollak ES, Surrey S, Ferrari M, Fortina P. Analysis of clinically relevant single nucleotide polymorphisms using microelectronic array technology. Clinical Chemistry 48: 2124-2130, 2002
  • Kajiyama T, Miyahara Y, Kricka LJ, Wilding P, Graves DJ, Surrey S, Fortina P. Genotyping on a thermal gradient DNA chip. Genome Research 13: 467-475, 2003
  • Annese V, Latiano A, Palmieri O, Li H-H, Forabosco P, Ferraris A, Andriulli A, Vecchi M, Ardizzone S, Cottone M, Dallapiccola B, Rappaport E, Fortina P, Devoto M. Linkage of ulcerative colitis to the pericentromeric region of chromosome 16 in Italian inflammatory bowel disease families is independent of the presence of common CARD15 mutations. Journal of Medical Genetics 40: 837-841, 2003
  • Palmieri O, Toth S, Ferraris A, Andriulli A, Latiano A, Annese V, Dallapiccola B, Vecchi M, Devoto M, Surrey S, Fortina P. CARD15 genotyping in inflammatory bowel disease patients by multiplex Pyrosequencing. Clinical Chemistry 49: 1675-1679, 2003
  • Foglieni B, Cremonesi L, Travi M, Ravani A, Giambona A, Rosatelli MC, Perra C, Fortina P, Ferrari M. Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection. Clinical Chemistry50: 73-79, 2004
  • Panaro NJ, Lou XJ, Fortina P, Kricka LJ, Wilding P. Surface effects on PCR reactions in multichip microfluidic platforms. Biomedical Microdevices 6: 75-80, 2004
  • Cowie S, Drmanac S, Swanson D, Delgrosso K, Huang S, du Sart D, Drmanac R, Surrey S, Fortina P. Identification of APC gene mutations in colorectal cancer using universal microarray-based combinatorial sequencing-by-hybridization. Human Mutation 24: 261-271, 2004
  • Panaro NJ, Lou XJ, Fortina P, Kricka LJ, Wilding P. Micropillar array chip for integrated white blood cell isolation and PCR. Biomolecular Engineering 21: 157-162, 2005
  • Maris JM, Hii G, Gelfand G, Varde S, White P, Surrey S, Fortina P. Region specific detection of neuroblastoma loss of heterozygosity at multiple loci simultaneously using a SNP-based tag-array platform. Genome Research 15: 1168-1176, 2005
  • Fortina P, Kricka LJ, Surrey S, Grodzinski P. Nanobiotechnology: the promise and reality of new approaches to molecular recognition. Trends in Biotechnology 23: 168-173, 2005
  • Schirinzi A, Drmanac S, Dallapiccola B, Huang S, Scott K, De Luca A, Swanson D, Drmanac R, Surrey S, Fortina P. Combinatorial sequencing-by-hybridization: analysis of the NF1 gene. Genetic Testing 10: 8-17, 2006
  • Fortina P, Kricka LJ, Graves DJ, Park J, Hyslop T, Surrey S, Waldman SA. Applications of nanoparticles to diagnostics and therapeutics in colorectal cancer. Trends Biotechnology 25:145-152, 2007
  • George RE, Attiyeh EF, Li S, Moreau LA, Neuberg D, Li C, Fox EA, Meyerson M, Diller L, Fortina P, Look AT, Maris JM. Genome-wide analysis of neuroblastomas using high-density single nucleotide polymorphism arrays. PLoS ONE 2: e255, 2007
  • Fortina P, Surrey S. Digital mRNA profiling. Nature Biotechnology 26:293-294, 2008
  • Augustus AS, Buchanan J, Gutman E, Rengo G, Pestell RG, Fortina P, Koch WJ, Bensadoun A, Abel ED, Lisanti MP. Hearts lacking caveolin-1 develop hypertrophy with normal cardiac substrate metabolism. Cell Cycle 7: 2509-2518, 2008
  • Augustus AS, Buchanan J, Addya S, Rengo G, Pestell RG, Fortina P, Koch WJ, Bensadoun A, Abel ED, Lisanti MP. Substrate uptake and metabolism are preserved in hypertrophic caveolin-3 knockout hearts. American Journal of Physiology, Heart and Circulatory Physiology 295: 657-666, 2008
  • Battistella S, Damin F, Chiari M, Delgrosso K, Surrey S, Fortina P, Ferrari M, Cremonesi L. Genotyping beta-globin gene mutations on copolymer-coated glass slides with the ligation detection reaction. Clinical Chemistry 54: 1657-1663, 2008
  • Levi L, Pekarski I, Gutman E, Fortina P, Hyslop T, Biran J, Levavi-Sivan B, Lubzens E. Revealing genes associated with vitellogenesis in the liver of the Zebrafish (Danio rerio) by transcriptome profiling. BMC Genomics 10: 141-153, 2009.
  • Pavlides S, Whitaker-Menezes D, Castello-Cros R, Flomenberg N, Witkiewicz AK, Frank PG, Casimiro MC, Wang C, Fortina P, Addya S, Pestell RG, Martinez-Outschoorn UE, Sotgia F, Lisanti MP. The reverse Warburg effect: aerobic glycolysis in cancer associated fibroblasts and the tumor stroma. Cell Cycle 23: 3984-4001, 2009
  • Liu M, Casimiro MC, Wang C, Shirley LA, Jiao X, Katiyar S, Ju X, Li Z, Yu Z, Zhou J, Johnson M, Fortina P, Hyslop T, Windle JJ, Pestell RG. p21CIP1 attenuates Ras- and c-Myc-dependent breast tumor epithelial mesenchymal transition and cancer stem cell-like gene expression in vivo. Proceeding National Academy of Science USA 106: 19035-19039, 2009
  • Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B. High resolution SNP arrays in mental retardation diagnostics: how much do we gain? European Journal of Human Genetics 18: 178-185, 2010
  • Feldman G, Dalsey C, Fertala K, Azimi D, Fortina P, Devoto M, Pacifici M, Parvizi J. Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family. Clinical and Orthopedic Related Research 468: 337-344, 2010
  • Gu L, Dagvadorj A, Lutz J, Leiby B, Bonucelli G, Lisanti M, Addya S, Fortina P, Dasgupta A, Hyslop T, Bubendorf L, Nevalainen MT. Transcription factor STAT3 stimulates metastatic behavior of human prostate cancer cells in vivo while STAT5b has a preferential role in the promotion of prostate cancer cell viability and tumor growth. American Journal of Pathology 176: 1959-1972, 2010
  • Martinoli E, Zuccotti GV, Poglaini L, Volonte M, Venturin M, Fortina P, Ertel A, Redaelli S, Riva P, Dalpra L. A tandem duplication of chromosome 21 in a newborn showing non-down like features. American Journal Medical Genetics 152: 1043-1045, 2010
  • Saraiya M, Nasser R, Zeng Y, Addya S, Ponnappan RK, Fortina P, Anderson DG, Albert TJ, Shapiro IM, Risbud MV. Reversine enhances generation of progenitor-like cells by dedifferentiation of annulus fibrosus cells. Tissue Engineering Part A. 16: 1443-1455, 2010
  • Gu L, Vogiatzi P, Puhr M, Dagvadorj A, Lutz J, Ryder A, Addya S, Fortina P, Cooper C, Leiby B, Dasgupta A, Hyslop T, Bubendorf L, Alanen K, Mirtti T, Nevalainen MT. STAT5 promotes metastatic behavior of human prostate cancer cells in vitro and in vivo. Endocrine-Related Cancer17: 481-493, 2010
  • Pavlides S, Tsirigos A, Vera I, Flomenberg N, Frank PG, Casimiro MC, Wang C, Fortina P, Addya S, Pestell RG, Martinez-Outschoorn UE, Sotgia F, Lisanti MP. Loss of stromal caveolin-1 leads to oxidative stress, mimics hypoxia and drives inflammation in the tumor microenvironment, conferring the "reverse Warburg effect": A transcriptional informatics analysis with validation. Cell Cycle Jun 22; 9 (11), 2010
  • Fortina P, Kricka LJ. Nanotechnology: Improving clinical testing? Clinical Chemistry 56: 1384-1389, 2010.
  • Del Galdo F, Wermuth PJ, Addya S, Fortina P, Jimenez SA. NFºB activation and stimulation of chemokine production in normal human macrophages by the gadolinium-based magnetic resonance contrast agent Omniscan: possible role in the pathogenesis of nephrogenic systemic fibrosis. Annual Rheumatoid Diseases 69: 2024-2033, 2010
  • Fortina P, Kricka LJ. Nanotechnology: improving clinical testing? Clinical Chemistry 56: 1384-1389, 2010
  • Villa N, Bentivegna A, Ertel A, Redaelli S, Colombo C, Nacinovich R, Broggi F, Lissoni S, Bungaro S, Addya S, Fortina P, Dalprà L. A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. American Journal Medical Genetics 155: 1425-1431, 2011
  • Patrinos GP, Innocenti F, Cox N, Fortina P. Genetic analysis in translational medicine: the 2010 Golden Helix symposium. Human Mutation 32: 698-703, 2011
  • Imai K, Kricka LJ, Fortina P. Concordance study of 3 direct-to-consumer genetic-testing services. Clinical Chemistry 57: 518-521, 2011
  • Witkiewicz A, Rivandeira D, Ertel A, Kline J, Hyslop T, Schwartz G, Fortina P, Knudsen E. Association of RB/p16-pathway perturbations with DCIS recurrence: dependence on tumor vs. tissue microenvironment. American Journal of Pathology 2011, in press
  • Books and Book Chapters:
  • Berry G, Fortina P. Genetic Polymorphisms in the Mitochondrial Genome (Chapter 9). In: "Genetic Polymorphisms and Susceptibility to Disease", Miller, M.S., Cronin, M.T. (eds.). Taylor and Francis, London, New York, pp. 207-229, 2000
  • Fortina P, Wilding P, Kricka LJ. Microfilter-based separation of cells (Chapter 8). In "Biochip Technology", Cheng J., and Kricka L. eds, pp 161-171, 2001. Harrowed Academic Publisher.
  • Fortina P, Graves D, Stoeckert C, Jr, McKenzie S, Surrey S. Technology options in microarrays-based molecular genetic analysis (Chapter 10). In "Biochip Technology", Cheng J., and Kricka L. eds, pp 185-215, 2001. Harrowed Academic Publisher.
  • Mansfield E, Wilson R, Fortina P. STR-PCR analysis by capillary array electrophoresis (Part III, Chapter 12). In: "Methods in Molecular Biology: Capillary Electrophoresis of Nucleic Acids, vol. II: Practical Applications of Capillary Electrophoresis, pp 151-161, Cheng J, Mitchelson M. (eds). Humana Presss, Totowa, NJ, 2001
  • Fortina P, Cheng J, Kricka LJ, Waters LJ, Ramsey JM. DOP-PCR amplification of whole genomic DNA and microchip capillary electrophoresis (Part III, Chapter 17). In: "Methods in Molecular Biology: "Capillary Electrophoresis of Nucleic Acids", Vol 163: Practical Applications of Capillary Electrophoresis, pp 211-219, Cheng J, Mitchelson M. (eds). Humana Presss, Totowa, NJ, 2001
  • Grodzinski P, Ward W, Liu R, Scott K, Surrey S, Fortina P. The use of microelectronic-based techniques in molecular diagnostic assays. In: "Molecular Diagnostic Techniques" Ansorge W, Patrinos GP, eds., chapter 2, pp. 349-363. Academic Press, Elsevier Science, New York, NY, 2005
  • Kricka LJ, Fortina P. Future perspectives on nucleic acid testing. In: DNA and RNA Testing for Human Disease, A. Lorincz, ed., chapter 16, pp. 413-433. CRC Taylor and Francis, New York, NY, 2006.
  • Joos, T, Fortina P. Microarray in Clinical Diagnostics. In: Methods in Molecular Biology, Fortina P, Joos T, eds, vol. 114, pp. 1-274, Humana Presss, Totowa, NJ. 200510, 2006.
  • Fortina P, Wang J, Surrey S, Park JY, Kricka L. Beyond Microtechnology - Nanotechnology in molecular diagnosis. In: Integrated Biochips for DNA Analysis, R.H Liu and A. P. Lee, eds., chapter 13, pp 186-197. Landes Bioscience and Springer Verlag, Austin, TX, 2007.
  • Alternative Media:
  • Kricka L, Surrey S, Fortina P. Multispot array technology. Encyclopedia of Life Science. Nature Publishing Group, UK, 2001 - URL:
  • News and Magazine Articles:
  • Articles covering my research work have appeared in:
  • CAP Today (College of American Pathologists). March 1998, Vol. 12, N. 3, pp. 1
  • Laboratory Medicine: New chip on the block. March 1999, Vol. 30, N. 3, pp. 180-188
  • In Vivo - The Business & Medicine Report. April 2001, Vol 19, N. 4, pp. 35-45
  • Human Mutation 2004 Vol 23, N. 5, pp. 401-405

Individual Expertise profile of Paolo M. Fortina, MD, PhD, Copyright © Paolo M. Fortina, MD, PhD.
Last Updated by Paolo Fortina, MD, PhD : Friday, June 10, 2011 6:09:23 PM

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