Margret L Casal

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Associate Professor of Medical Genetics – tenure track, School of Veterinary Medicine, University of Pennsylvania.

Contact information
Section 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
Lab: 215-898-8076
Education:
DVM (Medicus Veterinariae degree )
University of Zürich, Switzerland, 1984.
MS (Dr. phil. II degree )
University of Bern, Switzerland, 1988.
PhD (Pathology )
University of Pennsylvania, 1999.
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Description of Research Expertise

Dr. 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 and lysosomal storage disorders in dogs that also occur in humans. The skin disorders being studied in collaboration with Dr. Elizabeth Mauldin include cutaneous exfoliative lupus erythematosus of the German shorthaired pointer, Ehlers Danlos syndrome (a collagen defect), and non-epidermolytic ichthyosis (fish-scale disease). 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. Clinical and cognitive responses to gene therapy are being examined in the dogs with mucopolysaccharidosis type I and type VII, both lysosomal storage diseases that are quite devastating in humans. These studies are performed in collaboration with other researchers at Penn and outside of the University.

Description of Itmat Expertise

Canine models of human disease:
Ectodermal dysplasia
Mucopolysaccharidoses
Familial exfoliative lupus erythematosus
Collagen disorders
Gene therapy

Selected Publications

Ellinwood, 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. Suter, P, F., Kohn, B. (eds.). Parey Verlag, Berlin, Germany, 10th ed., 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.

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Last updated: 06/28/2017
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