Advancing the health and well-being of animals and people

Principal Investigator: Rory Todhunter
Co-Principal Investigators: Adam Boyko, Marta Castelhano

Department of Clinical Sciences
Email:; Phone: 607-253-3041
Sponsor: Cornell Feline Health Center
Grant Number: N/A
Title: Genetic and Genomic Resources for the Cat
Annual Direct Cost: $50,000
Project Period: 08/01/2013-07/31/2014

Description (Provided by applicant): Cornell Veterinary College has a medical genetic archive of over 10,000 DNA samples from privately-owned animals admitted to our hospital for diagnostic workup and treatment. Genome wide association studies for several inherited diseases and traits are almost complete on 4,200 pure breed dogs in this archive. Genetic diseases are prevalent in cats, especially the pure breeds, but the number of genetic tests available for cats, compared to those for dogs, is small. There are more cats in American households than dogs (maybe as many as 80 million) but genetic material archived from domestic cats is woefully underrepresented in our archive. To efficiently identify mutations causal for inherited traits in cats, we propose in the coming year to add DNA on 400 cats that suffer from a predetermined set of simple or complex genetic diseases. The diagnosis will be made by board-certified specialists practicing in our Hospital. To help several investigators map feline diseases with sufficient power, we propose to screen a subset of 55 of these hospital patients in the coming year to exclude a set of diseases (factor XII deficiency, inflammatory bowel disease, polycystic liver disease, cholangitis/cholangiohepatitis, hypertrophic cardiomyopathy, chronic renal disease, hyperthyroidism, alimentary lymphoma/lymphosarcoma, generalized osteoarthritis, hip dysplasia, patellar luxation, injection site sarcoma, gingivitis-stomatitis, lower urinary tract disorders, diabetes mellitus, rhinitis/sinusitis, Feline Infectious Peritonitis, renal amyloidosis, and mast cell tumor) so that they can be used as common controls for several mapping studies. Based on current case load (over 2,000 cats were admitted to our Hospital in 2012), we will have accumulated sufficient cases and controls next year to begin genome wide association studies for at least two diseases using hospital patients or contributing to principal investigator-initiated mapping studies. The version 1 feline mapping array contains 63,000 single nucleotide polymorphism (SNP) markers that can be interrogated. We propose to contribute to the next generation of feline mapping arrays by deep whole genome sequencing 5 of these older control cats in a collaborative effort with feline geneticist, Dr Leslie Lyons, at UC Davis. Discovery of additional variants and mutations will facilitate development of a denser, more sophisticated array for genome wide association studies. These whole genome sequences will also be available for Cornell investigators to compare to whole genome sequence of affected cats to enable fine mapping studies to identify candidate genes in the refined linkage disequilibrium interval. We will continue to develop this feline genetic and genomic resource over the next years to establish Cornell Veterinary College as one of the preeminent medical genetics programs in the country.