The investigators in the CCMG interdisciplinary are drawn from several departments of the School of Veterinary Medicine and the School of Medicine. The investigators also have numerous collaborations within the University and at other universities, research institutes, biotechnology companies, NIH, and internationally. The CCMG members have key roles in University-wide programs including graduate groups in Cell and Molecular Biology, Biochemistry and Molecular Biophysics, Immunology, and Neuroscience; The David Mahoney Institute of Neurological Sciences; The Mental Retardation Research Center; Abramson Family Cancer Research Institute; and the Penn Genomics Institute. The programs within the CCMG fall into three general categories.
Studies in Established Animal Models of Human Genetic Disease
These studies are aimed primarily at the investigation of new approaches to understanding and treating the corresponding disease in human patients. Current studies include comparative mapping of disease genes in the dog, studies of the pathogenesis of genetic diseases in dogs and cats, and gene therapy studies in mice, cats, and dogs. Link to the Faculty Research This work contributes basic knowledge needed in both veterinary and human medicine to define the molecular nature of genetic diseases, and to understand the intermediate steps between the disease gene and the clinical and pathologic phenotype in affected individuals. These are primarily conducted through individual research grants, mostly from NIH. Many of these grants involve collaborations among the CCMG laboratories. Link to the Grant List
Clinical Genetics Research
This research concentrates on the identification of naturally occurring genetic diseases of animals and characterization of these diseases at the clinical, pathologic, and molecular genetic levels. One objective is to provide the basic knowledge needed to provide useful animal models of disease for further investigation. Potential new genetic diseases are diagnosed and initially characterized under an NCRR Center Grant. The second objective is to use the research information to accurately diagnose and reduce the frequency of genetic disorders within the animal populations in which they occur. This is done in the Josephine Deubler Genetic Testing Laboratory, utilizing a variety of DNA and other tests, as a service to the veterinary, and dog and cat breeding communities. A comprehensive computerized knowledge base on genetic diseases of the dog, The Canine Genetic Disease Information System, is a computerized database that has been developed by Dr. D.F. Patterson and is expected to assist veterinarians, geneticists, and dog breeders in eliminating disease-producing genes from breed populations.