Denise E. Sabatino, PhD Denise E. Sabatino, PhD, is a researcher in the Division of Hematology at Children's Hospital of Philadelphia. Locations: Main Campus Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467) Education and Training FellowshipPostdoctoral Fellow, Hematology and Gene Therapy - The Children's Hospital of Philadelphia, Philadelphia, PA NRSA Postdoctoral Fellow - The Children's Hospital of Philadelphia, Philadelphia, PA NRSA Postdoctoral Fellow of the Gene Therapy Program (T32) - The Children's Hospital of Philadelphia, Philadelphia, PA Graduate DegreePhD in Genetics - George Washington University/National Institutes of Health, Washington, DC Titles and Academic Titles ResearcherResearch Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania Departments and Services Division of Hematology Publications Papers2017 Nguyen GN, George LA, Siner JI, Davidson RJ, Zander CB, Zheng XL, Arruda VR, Camire RM, Sabatino DE: Novel human factor VIII variants with a modified furin cleavage site improve the efficacy of gene therapy for hemophilia A. J Thromb Haemost 15(1):110-121, 2017. (Epub 2016 Nov 25)PMID 27749002. 2016 Lange AM, Altynova E, Nguyen G, Sabatino DE: Overexpression of factor VIII after AAV delivery is transiently associated with cellular stress in hemophilia A mice. Mol Ther Methods Clin Dev 2016 Sept 28; 3: 16064. PMID 27738645. 2014 Greene TK, Lyde RB, Bailey SC, Lambert MP, Zhai L, Sabatino DE, Camire RM, Arruda VR, Poncz M. Apoptotic effects of platelet factor VIII on megakaryopoiesis: implications for a modified human FVIII for platelet-based gene therapy. J Thromb Haemost 12(12):2102-12, 2014. 2013 Siner JI, Iacobelli NP, Sabatino DE, Ivanciu L, Zhou S, Poncz M, Camire RM, Arruda VR: Minimal modification in the factor VIII B domain sequence ameliorates the murine hemophilia A phenotype. Blood 121(21): 4396-4403, 2013. 2012 Cao W, Sabatino DE, Altynova E, Lange AM, Casina VC, Camire RM, Zheng XL: Light Chain of Factor VIII Is Sufficient for Accelerating Cleavage of von Willebrand Factor by ADAMTS13 Metalloprotease. Journal of Biological Chemistry 287(39): 32459-66, 2012. 2011 Sabatino DE, Lange AM, Altynova ES, Sarkar R, Zhou S, Merricks EP, Franck HG, Nichols TC, Arruda VR, Kazazian HH: Efficacy and safety of long-term prophylaxis in severe hemophilia A dogs following liver gene therapy using AAV vectors. Molecular Therapy 19(3): 442-449, 2011. 2009 Sabatino DE, Freguia CF, Toso R, Santos A, Merricks EP, Kazazian HH, Nichols TC, Camire RM, Arruda VR: Recombinant canine B-domain-deleted FVIII exhibits high specific activity and is safe in the canine hemophilia A model. Blood 114(20): 4562-4565, 2009. Murphy SL, Li H, Mingozzi F, Sabatino DE, Hui DJ, Edmonson SA, High KA: Diverse IgG Subclass Responses to Adeno-Associated Virus Infection and Vector Administration. Journal of Medical Virology. Wiley-Liss, Inc. 81: 65-74, 2009. 2007 Sabatino DE, Mackenzie TC, Peranteau W, Edmonson S, Campagnoli C, Liu YL, Flake AW, High KA: Persistent expression of hF.IX after tolerance induction by in utero or neonatal administration of AAV-1-F.IX in hemophilia B mice. Molecular Therapy 15(9): 1677-85, 2007. Mingozzi F, Maus MV, Hui DJ, Sabatino DE, Murphy SL, Rasko JE, Ragni M V, Manno CS, Sommer J, Jiang H, Pierce GF, Ertl HC, High KA: CD8(+) T-cell responses to adeno-associated virus capsid in humans. Nature Medicine 13(4): 419-22, 2007. Mingozzi F, Hasbrouck NC, Basner-Tschakarjan E, Edmonson SA, Hui DJ, Sabatino DE, Zhou S, Wright JF, Jiang H, Pierce GF, Arruda VR, High KA: Modulation of tolerance to the transgene product in a nonhuman primate model of AAV-mediated gene transfer to liver. Blood 110(7): 2334-41, 2007. 2006 Nilson DG, Sabatino DE, Bodine DM, Gallagher PG: Major erythrocyte membrane protein genes in EKLF-deficient mice. Exp Hematol 34(6): 705-12, 2006. Manno CS, Pierce GF, Arruda VR, Glader B, Ragni M, Rasko JJ, Ozelo MC, Hoots K, Blatt P, Konkle B, Dake M, Kaye R, Razavi M, Zajko A, Zehnder J, Rustagi PK, Nakai H, Chew A, Leonard D, Wright JF, Lessard RR, Sommer J M, Tigges M, Sabatino D, Luk A, Jiang H, Mingozzi F, Couto L, Ertl HC, High, KA, Kay MA: Successful transduction of liver in hemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nature Med 12(3): 342-7, 2006. 2005 Sabatino DE, Mingozzi F, Hui DJ, Chen H, Colosi P, Ertl, HC, High KA: Identification of mouse AAV capsid-specific CD8+ T cell epitopes. Molecular Therapy 12(6): 1023-33, 2005. 2004 Sabatino DE, Armstrong E, Edmonson S, Liu YL, Pleimes M, Schuettrumpf J, Fitzgerald J, Herzog RW, Arruda VR, High KA: Novel hemophilia B mouse models exhibiting a range of mutations in the Factor IX gene. Blood 104(9): 2767-74, 2004. 2003 Liu YL, Wagner K, Robinson N, Sabatino D, Margaritis P, Xiao W, Herzog RW: Optimized production of high-titer recombinant adeno-associated virus in roller bottles. Biotechniques 34(1): 184-9, 2003. PMCID: 12545558 2002 Boulanger L, Sabatino DE, Wong EY, Cline AP, Garrett LJ, Garbarz M, Dhermy D, Bodine DM, Gallagher PG: Erythroid expression of the human alpha-spectrin gene promoter is mediated by GATA-1- and NF-E2-binding proteins. J Biol Chem 277(44): 41563-70, 2002. 2001 Sabatino DE, Seidel NE, Cline AP, Anderson SM, Gallagher PG, Bodine DM: Development of a stable retrovirus vector capable of long-term expression of gamma-globin mRNA in mouse erythrocytes. Ann N Y Acad Sci 938: 246-61, 2001. Persons DA, Allay ER, Sabatino DE, Kelly P, Bodine DM, Nienhuis AW: Functional requirements for phenotypic correction of murine beta-thalassemia: implications for human gene therapy. Blood 97(10): 3275-82, 2001. Gallagher PG, Sabatino DE, Basseres DS, Nilson DM, Wong C, Cline AP, Garrett LJ, Bodine DM: Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression. J Biol Chem 276(45): 41683-9, 2001. 2000 Sabatino DE, Wong C, Cline AP, Pyle L, Garrett LJ, Gallagher PG, Bodine DM: A minimal ankyrin promoter linked to a human gamma-globin gene demonstrates erythroid specific copy number dependent expression with minimal position or enhancer dependence in transgenic mice. J Biol Chem 275(37): 28549-54, 2000. Sabatino DE, Seidel NE, Aviles-Mendoza GJ, Cline AP, Anderson SM, Gallagher PG, Bodine DM: Long-term expression of gamma-globin mRNA in mouse erythrocytes from retrovirus vectors containing the human gamma-globin gene fused to the ankyrin-1 promoter. Proc Natl Acad Sci U S A 97(24): 13294-9, 2000. 1999 Gallagher PG, Sabatino DE, Romana M, Cline AP, Garrett LJ, Bodine DM, Forget BG: A human beta-spectrin gene promoter directs high level expression in erythroid but not muscle or neural cells. J Biol Chem 274(10): 6062-73, 1999. 1998 Sabatino DE, Cline AP, Gallagher PG, Garrett LJ, Stamatoyannopoulos G, Forget BG, Bodine DM: Substitution of the human beta-spectrin promoter for the human agamma-globin promoter prevents silencing of a linked human betaglobin gene in transgenic mice. Mol Cell Biol 18(11): 6634-40, 1998. 1997 Sabatino DE, Do BQ, Pyle LC, Seidel NE, Girard LJ, Spratt SK, Orlic D, Bodine DM: Amphotropic or gibbon ape leukemia virus retrovirus binding and transduction correlates with the level of receptor mRNA in human hematopoietic cell lines. Blood Cells Mol Dis 23(3): 422-33, 1997. 1996 Wu BL, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR: Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet 62(1): 77-83, 1996. Abstracts2016 Lyde RB, Ahn H, Vo KK, Jarocha DJ, Zhai L, Sullivan SK, Arruda VR, Sabatino DE, Camire RM, French D, Poncz M. Infusion of Coagulation Factor VIII-Containing Induced Pluripotent Stem Cell (iPSC)-Derived Megakaryocytes (iMKs) Shows Potential As A Hemophilia A Treatment. Blood 128(22):2559. December 2016. American Society of Hematology Annual Meeting. BooksChapters 2003 Sabatino DE, High KA: Immune Responses in Gene Transfer for Genetic Disorders. DNA Vaccines. Hildegund C.J. Ertl (eds.). Kluwer Academic/Plenum Publishers, 2003. Posters and Presentations2018 Messer AS, Nguyen GN, Wood CM, Wimsey LE, Merricks E, Nichols TC, Kazazian HH, Sabatino DE. Efficacy and Safety of Long-Term Prophylaxis in Severe Hemophilia A Dogs Following Liver Gene Therapy Using AAV Vectors: A 10 Year Follow-Up Report. Molecular Therapy. May 2018. American Society of Gene and Cell Therapy 21st Annual Meeting. Chicago, IL. Oral Presentation. 2017 Nguyen GN, Wood CM, Sabatino DE. Altered Cleavage of Human Factor VIII at the B-domain and Acidic Region 3 Interface Enhances In Vitro and In Vivo Function. Res Practice Thromb Haemost 1(Suppl 1): 94, June 2017 XXVI Congress of the International Society on Thrombosis and Haemostasis. Oral presentation. Lyde R, Ahn H, Jarocha D, Zhai L, Sullivan S, Arruda V, Sabatino D, Camire R, French D, Poncz M. Prophylactic Platelet Factor (F) VIII Infusions Established from Induced Pluripotent Stem Cell (iPSC)-derived Megakaryocytes in Hemophilia A. Res Practice Thromb Haemost 1(Suppl 1): 176, June 2017 XXVI Congress of the International Society on Thrombosis and Haemostasis. Oral presentation. 2016 Nguyen GN, Wood CM, Dirstine T, Davidson RJ, Sabatino DE. Novel Human Factor VIII Variant with Impaired Intracellular Processing Exhibits Enhanced In Vivo Efficacy. Blood 128(22):256. December 2016. American Society of Hematology Annual Meeting. Oral Presentation. Liu Z, Zheng C, Sabatino D, Zhang B. The C Domain Mediates the Export of FVIII from the Endoplasmic Reticulum By Interacting with MCFD2. Blood 128(22):255. December 2016. American Society of Hematology Annual Meeting. Oral Presentation. Anguela XM, Elkouby L, Toso R, DiPietro M, Davidson RJ, High KA, Sabatino DE. Therapeutic Human Factor VIII Expression After AAV Delivery in Non-Human Primates. Molecular Therapy 24(Suppl 1):S24. May 2016. American Society of Gene and Cell Therapy 19th Annual Meeting. Oral presentation. Invited Lectures 2018 Sabatino DE. “Efficacy and Safety of Long-Term Prophylaxis in Severe Hemophilia A Dogs Following Liver Gene Therapy Using AAV Vectors: A 10 Year Follow-Up Report”, American Society of Gene and Cell Therapy 21st Annual Meeting, Chicago, IL. May 2018. Sabatino DE. Co-Chair, NHLBI/NIH State of the Science Workshop, Factor VIII Inhibitors: Generating a National Blueprint for Future Research, Bethesda, MD, May 15-16, 2018. Sabatino DE. Visiting Professor, University of Piemonte Orientale in Novara, Italy. March 2018. Sabatino DE. National Hemophilia Foundation 14th Workshop on Novel Technologies and Gene Transfer for Hemophilia, Washington, D.C., Feb 22-24, 2018. Sabatino DE. “Efficacy and Safety of Novel Factor VIII Variants in Gene Therapy for Hemophilia A”, The University of Florida, Gainesville, FL, January 26, 2018. 2017 Sabatino DE. “Overcoming the Challenges of Gene Therapy for Hemophilia A”, The Ohio State University, Columbus, OH, October 2, 2017. Sabatino DE. “Novel Factor VIII Variants for Improved Efficacy in Gene Therapy for Hemophilia A”, Temple University School of Medicine, Sol Sherry Thrombosis Research Center, Philadelphia, PA. April 2017. 2016 Sabatino DE. “Animal Models of Hemophilia: The Key to Success in Developing Novel Therapeutics for Bleeding Disorders”, Laboratory Animal Services Quarterly Meeting, The Children’s Hospital of Philadelphia, Philadelphia, PA. Nov 2016. Awards and Honors 2012, ASPIRE Hemophilia Research Grant Award, Pfizer 2009, Early Career Investigator Award, Bayer Hemophilia Awards, Bayer Healthcare, LLC 2002, Ruth L. Kirschstein National Research Service Award (F32) 2000, Pre-doctoral Intramural Training Award (NHGRI/NIH) 1999, Outstanding Research Award, National Human Genome Research Institute Annual Retreat 1998, Outstanding Research Award, National Human Genome Research Institute Annual Retreat 1990-1992, Helix, The Biological Sciences Honor Society, The Ohio State University Leadership and Memberships Memberships in Professional Organizations International 2013-present, North American Society on Thrombosis and Hemostasis (NASTH) 2012-present, International Society on Thrombosis and Haemostasis (ISTH) National 2016-present, American Society of Gene and Cell Therapy - 2016-present, Genetic and Metabolic Diseases Committee 2008-present, American Society of Hematology (ASH) 1998-present, American Society of Gene and Cell Therapy (ASGCT) Patient Experience Ratings About the Patient Experience Rating System The Patient Experience Rating is an average of all responses to the care provider related questions shown above from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question. Responses are measured on a scale of 1 to 5 with 5 being the best score. We are committed to true transparency. However, to ensure the comments are fair and correctly attributed, we review each one before posting to the website. We exclude entire comments that disclose patient's protected health information, are off-topic, or include other confidential or inappropriate content. Comments will appear on provider bios only if providers have a minimum number of comments. Comments are shared internally for education purposes to ensure that we are doing our very best for the patients and families for whom we are privileged to care. The comments are submitted by patients and families and reflect their views and opinions. The comments are not endorsed by and do not reflect the views of Children’s Hospital of Philadelphia.