Margret L CasalAssociate Professor of Medical Genetics – tenure track Contact InformationSection of Medical Genetics, Room 4033 VHUP
School of Veterinary Medicine
University of Pennsylvania
3900 Delancey Street Philadelphia,, PA 19104 Office: 215-898-0029 Fax: 215-573-2162 Email:casalml@vet.upenn.eduEducationDVM (Medicus Veterinariae degree ) University of Zürich, Switzerland, 1984 MS (Dr. phil. II degree ) University of Bern, Switzerland, 1988 PhD (Pathology ) University of Pennsylvania, 1999 | Description of Research ExpertiseDr. Casal is specialized in veterinary genetics, pediatrics and reproduction. Her research interests are focused on the characterization, genetic basis, and treatment of canine genetic skin disorders that also occur in humans. Dr. Casal, in collaboration with Dr. Elizabeth Mauldin, a veterinary dermatopathologist, from the Department of Pathobiology, is investigating the pathogenesis of several hereditary canine skin diseases to increase understanding of the disorders, with the goal of ultimately developing a screening test to identify carrier animals. These include cutaneous exfoliative lupus erythematosus of the German short-haired pointer, Ehlers Danlos syndrome and nonepidermolytic ichthyosis (fish-scale disease) affecting the American bulldog. Furthermore, more extensive collaborative investigations are underway into the morphologic manifestations of canine X-linked hypohidrotic ectodermal dysplasia and response to neonatal therapy using a recombinant protein, as this disorder in dogs is identical to that seen in humans. Description of Clinical ExpertiseCanine and feline pediatrics
Canine and feline reproduction
Canine and feline genetics Selected PublicationsEllinwood, N. M., Colle, M-A., Weil, M., Casal, M., Vite, C., Weimelt, S., Hasson, C., O’Malley, T., He, X., Verot., L., Prociuk, U., Melniczek., J., Lannon, A., Aguirre, G., Knox, V., Evans, S., Vanier, M., Schuchman, E., Walkley, S., Haskins, M. : Bone marrow transplantation for feline MPS I. Mol Genet Metabol 91: 239-250, 2007. Grider, A., Mouat, M. F., Mauldin,E. A., Casal, M. L.: Analysis of the Liver Soluble Proteome from Bull Terriers Affected with Inherited Lethal Acrodermatitis. Mol Genet Metabol 92(3): 249-257, 2007. Beall, B., Casal, M. L. : XXX rated: the cycling but infertile dog. Society for Theriogenology. Monterey, CA. 2007. Casal ML, Lewis JR, Mauldin EA, Tardivel A, Ingold K, Favre M, Paradies F, Demotz S, Gaide O, Schneider P. : Significant correction of disease after postnatal administration of recombinant ectodysplasin a in canine x-linked ectodermal dysplasia.
Am J Hum Genet. 81(5)1050-6 2007. Traas, A. M., Casal, M., Haskins, M., Henthorn, P.: Genetic counseling in the era of molecular diagnostics. Theriogenology 66: 599-605, 2006. Casal, M. L., Munuve, R. M., Janis, M. A., Werner, P., Henthorn, P. S.: Idiopathic epilepsy in the Irish wolfhound. J Vet Int Med 20: 131-135., 2006. von Bomhard, W., Mauldin, E.A., Schmutz, S.M., Leeb, T., Casal, M.L. : Black hair follicular dysplasia in Large Münsterländer dogs: clinical, histological and ultrastructural features. Veterinary Dermatology 17: 182-188, 2006. Casal, M. L. : Effects of pregnancy on complete blood cell counts and serum biochemical profiles in dogs. Society for Theriogenology. St. Paul, MN. 2006. Casal, M. L. : Erbrankheiten (Inherited Diseases). Praktikum der Hundeklinik 10th ed.Suter, P, F., Kohn, B. (eds.). Parey Verlag, Berlin, Germany, 2006. Goldschmidt, M. H., Kennedy, J. S., Kennedy, D. R., Yuan, H., Holt, D. S., Casal, M. L., Traas, A. M., Mauldin, E. A., Moore, P. F., Henthorn, P. S., Hartnett, B., J., Weinberg, K. I., Schlegel, R., Felsburg, P. J. : Severe papillomavirus infection progressing to metastatic squamous cell carcinoma in bone marrow transplanted X-linked SCID dogs. J Virol 80: 6621-6628, 2006. |