Casal M.L.

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.