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Steven S. Fakharzadeh, M.D., Ph.D.

Assistant Professor

235B Clinical Research Building
415 Curie Boulevard
Philadelphia, Pennsylvania 19104

Tel: 215-573-5709
Fax: 215-573-2143
Email: ssf@mail.med.upenn.edu

 
 

Education
1983        B.A.                    Cornell University
1991        M.D., Ph.D.           University of Pennsylvania

Clinical Specialties
General Dermatology; Genetic skin disorders

Research Area of Interests
Cutaneous gene therapy; Genetic basis of skin cancer; Genetic basis of skin disease

Research Summary
Three areas of investigation are being pursued in the Fakharzadeh lab.

First, we are studying use of the skin as a target tissue for gene therapy to treat systemic diseases, such as hemophilia. We are utilizing transgenic models to test the feasibility of this approach and optimize strategies for skin-targeted gene therapy. In addition, we are examining different approaches for in vivo and ex vivo gene delivery in an effort to achieve safe, efficient, and stable skin-targeted gene therapy.

Second, we are examining the genetic basis of basal cell skin cancer and related tumors. In doing so, we hope to identify genetic determinants that distinguish between formation of benign and malignant skin tumors. Such findings may provide a better understanding of the pathogenesis of skin tumors and suggest approaches for novel therapies.

Third, we are studying the genetic basis of various hereditary diseases related to the skin. One example is trimethylaminuria. Afflicted individuals impart a malodor due to deficiency of a specific enzyme, flavin-containing-monooxygenase 3 (FMO3). In collaboration with Dr. George Preti of the Monell Chemical Senses Center, we are screening subjects with trimethylaminuria for alterations in the FMO3 gene to gain better insight into the genetic pathogenesis of this disorder.

Dr. Fakharzadeh's Lab Personnel:
Xian Yuan Cha, M.D., Post Doctoral Fellow
Hongbo Lu, Research Specialist
Christine Marshall, Research Specialist


Selected Publications

  1. Dans M and Fakharzadeh S. “Genetic Basis of Skin Cancer” in Cancer of the Skin, editor Rigel D, Elsevier Science, Ltd. (in press).

  2. Fakharzadeh SS. Cutaneous gene therapy for haemophilia. Expert Opin Biol Ther. 4:763-766, 2004.

  3. Yarovoi H., Kufrin D., Eslin D.E., Thornton M.A., Haberichter S.L., Shi Q., Zhu H., Camire R., Fakharzadeh S.S., Kowalska M.A., Wilcox D.A., Sachais B.S., Montgomery R.R., and Poncz M.Factor VIII ectopically expressed in platelets: efficacy in hemophilia A treatment. Blood. 102:4006-13, 2003.

  4. Cashman,J, Camp K, Fakharzadeh S, Fennessey P, Hines R, Mamer O, Mitchell S, Preti G, Schlenk D, Smith R, Tjoa S, Williams D, and Yannicelli S, (review) Biochemical and Clinical Aspects of the Human Flavin-Containing Monooxygenase Form 3 (FMO3) Related to Trimethylaminuria. Curr. Drug Metab. 4:151-70, 2003.

  5. Jih,D., Shapiro M., James W., Levin M., Williams P., Oakey R,. Gelfand J., Fakharzadeh S., and Seykora J. "Basaloid Follicular Hamartoma: lesional characterization and review of the literature." Am. J. Dermatol. Path. 25:130-137, 2003.

  6. Wu, H., Wang, Z.W., Yan, A., Lyle, S., Fakharzadeh, S., Wahl, J.K., Wheelock, M.J., Ishikawa, H., Uitto, J., Amagai, M., and Stanley, J.R. Protection against pemphigus foliaceus by desmoglein 3 in neonates. New England Journal of Medicine, 343:31

  7. Fakharzadeh S, and Kazazian, H, Jr. Correlation Between Factor VIII Genotype and Inhibitor Development in Hemophilia A. (review) Seminars in Thrombosis and Hemostasis, 26:167-171,2000.

  8. Fakharzadeh, S., Zhang, Y., Sarkar, R., and Kazazian, H. Correction of the Coagulation defect in hemophilia A mice through factor VIII expression in skin. Blood, 95:2799-2805, 2000.

 

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