Paula S. Henthorn, Ph.D.

faculty photo
Professor of Medical Genetics with Tenure - Clinical Studies & Advanced Medicine, University of Pennsylvania School of Veterinary Medicine
Chief, Section of Medical Genetics, Department of Clinical Studies-Philadelphia School of Veterinary Medicine
Graduate Group Affiliations

Contact information
4030 Ryan/VHUP
3900 Delancey St
Philadelphia, PA 19104-6010
Office: 215-898-8894
Fax: 215-573-2162
B.S. (Biology/Genetics and Development)
University of Illinois at Champaign-Urbana, 1978.
Ph.D. (Genetics)
University of Wisconsin, 1984.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Description of Research Expertise

Research Interests
Characterization and therapy of canine and feline genetic disease for the development of treatments and DNA-based genetic tests and as models of human genetic disease.

Key words: Dog, cat, molecular genetics, gene mapping, complex inheritance.

Description of Research
Research activities focus on the characterization of inherited diseases in dogs and cats, with goals of developing DNA-based tests that can be used to eliminate diseases from companion animals by selective breeding, and to develop and test therapeutic approaches for treatment of genetic diseases in both man and animals. In collaboration with other colleagues at the School of Veterinary Medicine, various heritable diseases are currently under study, including multiple forms of congenital heart disease, dilated cardiomyopathy, multiple forms of cystinuria, deafness, diabetes, protein losing nephropathy, and protein losing enteropathy.

DNA-based Genetic Tests for Dogs
In the course of our research, we have developed genetic tests for various canine diseases, including juvenile dilated cardiomyopathy (JDCM) in Portuguese water dogs, Protein Losing Nephropathy (PLN) in soft-coated wheaten terriers, and various forms of cystinuria in Newfoundlands, Labrador retrievers, Mastiffs (and related breeds). Contact and for further information and instructions.

Rotation Projects for 2012-2013
Please see Dr. Henthorn.

Lab personnel:
Michael Raducha, Research Specialist

Selected Publications

Fyfe John C, Al-Tamimi Rabá A, Liu Junlong, Schäffer Alejandro A, Agarwala Richa, Henthorn Paula S: A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy. Neurogenetics 12(3): 223-32, Aug 2011.

Werner P, Raducha MG, Prociuk U, Sleeper MM, Van Winkle TJ, Henthorn PS.: A novel locus for dilated cardiomyopathy maps to canine chromosome 8. Genomics 91(6): 517-521, June 2008.

Fyfe JC, Kurzhals RL, Hawkins MG, Wang P, Yuhki N, Giger U, Van Winkle TJ, Haskins ME, Patterson DF, Henthorn PS.: A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. Molecular Genetics and Metabolism 90(4): 383-392, April 2007.

Bannasch Danika, Henthorn Paula S: Changing paradigms in diagnosis of inherited defects associated with urolithiasis. The Veterinary clinics of North America. Small animal practice 39(1): 111-25, Jan 2009.

Suter SE. Gouthro TA. McSweeney PA. Nash RA. Haskins ME. Felsburg PJ. Henthorn PS. : Optimized transduction of canine paediatric CD34(+) cells using an MSCV-based bicistronic vector. Veterinary Research Communications 30(8): 881-901, Nov 2006.

Suter SE. Gouthro TA. O'Malley T. Hartnett BJ. McSweeney PA. Moore PF. Felsburg PJ. Haskins ME. Henthorn PS. : Marking of peripheral T-lymphocytes by retroviral transduction and transplantation of CD34+ cells in a canine X-linked severe combined immunodeficiency model. Veterinary Immunology & Immunopathology. 117(3-4): 183-96, Jun 15 2007.

Sleeper MM. Henthorn PS. Vijayasarathy C. Dambach DM. Bowers T. Tijskens P. Armstrong CF. Lankford EB. : Dilated cardiomyopathy in juvenile Portuguese Water Dogs. Journal of Veterinary Internal Medicine. 16(1): 52-62, Jan-Feb 2002.

Werner P. Raducha MG. Prociuk U. Ostrander EA. Spielman RS. Kirkness EF. Patterson DF. Henthorn PS. : The keeshond defect in cardiac conotruncal development is oligogenic. Human Genetics 116(5): 368-77, Apr 2005.

Henthorn, P.S., Liu, J., Gidalevitz, T., Fang, J., Casal, M.L., Patterson, D.F. and Giger, U.: Polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. Human Genetics 107: 295-303, 2000.

VernauW. Hartnett BJ. Kennedy DR. Moore PF. Henthorn PS. Weinberg KL. Felsburg PJ.: T cell repertoire development in XSCID dogs following nonconditioned allogeneic bone marrow transplantation. Biol. Blood and Marrrow Transplantation 13: 1005-15, 2007.

Henthorn, P S. Somberg, R L. Fimiani, V M. Puck, J M. Patterson, D F. Felsburg, P J.: IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease. Genomics 23(1): 69-74, Sep 1 1994.

back to top
Last updated: 04/25/2019
The Trustees of the University of Pennsylvania