Cornell’s Genetics Study Provides Hope

It can help improve diagnosis, treatment, and prevention

A wide-reaching study that was done at Cornell University may provide hope for cats who suffer from hyperthyroidism, diabetes, and feline eosinophilic keratoconjunctivitis (a chronic disease of the cornea). The study looked at 1,122 cats and involved experts from Cornell veterinary clinical faculty, the Cornell Veterinary Biobank, the Cornell Feline Health Center, and Jeff Brockman, PhD, a genomics researcher at Hill’s Pet Nutrition in Maryland. This study is believed to mark the largest feline complex genetic disease-mapping study ever carried out in veterinary medicine, and it was an important step forward.

The goal for the study was to find genetic markers for diseases to narrow down the regions in the feline genome that need to be investigated to identify specific genetic defects. Such marker genes could be used to screen cats before they are bred and can lead to the identification of specific mutations that cause disease in cats. Identification of such mutations can improve our ability to diagnose, treat, and prevent genetically-mediated diseases.

Cornell researchers compared the genomes of diseased and control cats, and the study population included both purebred cats and the common domestic shorthaired and longhaired cats that make up the majority of our feline population. Using blood samples, the cats’ genomes were examined by running them through a custom-designed feline mapping array donated by Hill’s. This new technology can detect single variations in the genetic code at 340,000 sites across an individual cat’s genome.

Originally, nine diseases were chosen for study. These diseases were: hyperthyroidism, diabetes, eosinophilic keratoconjunctivitis, hypertrophic cardiomyopathy, chronic kidney disease, chronic enteropathy, inflammatory bowel disease, small cell alimentary lymphoma, and hypercalcemia. These are all complicated diseases, so the researchers were aware that their causes were likely to be multifactorial in the cats from both genetic and environmental standpoints.

Genomic locations for hyperthyroidism, diabetes, and feline eosinophilic keratoconjunctivitis were identified in the study, which providing crucial information for future investigations focused on identifying mutations that may cause these diseases. While a great deal more work needs to be done, this landmark study represents a big step forward toward improved feline health.