Genetic Investigations of Inherited Canine and Feline Diseases

University or Institution

Purdue University

Area of Research:

The Canine Genetics Laboratory (which also dabbles in feline genetics) at Purdue focuses on genetic disease and disease processes where the dog (or cat) serve as a relevant and informative biomedical model for equivalent human conditions. Current projects include spinal and other musculoskeletal conditions, neurologic diseases such as polyneuropathy, ophthalmic diseases such as pigmentary uveitis in Golden Retrievers, and others (dwarfism, vaccine response, and more).

Primary Mentor:

Kari J Ekenstedt, DVM, PhD, Assistant Professor email: [email protected]

Mentoring Team:

Peristera Paschou, PhD, Associate Professor, Purdue University, Department of Biological Sciences Dr. Paschou is an established researcher whose work focuses on investigating human neurodevelopmental disorders. Her research program conducts the same kinds of work as that in the Canine Genetics Laboratory, although often on a much larger scale. She is a PI on a current NIH R01 grant.

*An additional clinical mentor will be added to the team, depending on which project is selected for the full proposal (e.g., Dr. Wendy Townsend, DVM, DACVO could be added for an ophthalmic project)

Description of Potential research Projects:

The project will be tailored to the applicant’s specific interests. As described in the title, we have multiple potential and ongoing projects; a list is provided here, but residents interested in any translational/comparative genetics in any area can contact Dr. Ekenstedt for more information. Musculoskeletal projects include: dwarfism in Scottish Deerhounds and various spinal conditions (such as spondylocostal dysostosis) in multiple dog breeds (and one random-bred cat). Neurological conditions include: lissencephaly in American Cocker Spaniels, a peripheral vestibular disorder in Flat Coat Retrievers, and a remitting peripheral polyneuropathy in Siberian cats. Our main ophthalmic project is pigmentary uveitis in Golden Retrievers. Other projects include collaborative behavioral genetics investigations and heritability of vaccine antibody responses. We work very closely with clinicians who provide phenotypes. DNA is collected from affected dogs/cats and unaffected/normal controls. These are subjected to genotyping and/or sequencing, primarily high-density SNP arrays and whole-genome sequencing. Such data is then analyzed via GWAS (genome-wide association studies), selective sweep, and other analysis methodologies. Depending on the phenotype and its mode of inheritance, we can calculate heritability and create predictive models (complex phenotypes), or directly solve a condition (typically in a single-gene, Mendelian condition). Regardless, the research project and training will consist of significant “big data” computer-based work: mastery of multiple genetic software programs, interfacing with the campus super computers (shell scripts, etc.), and performing statistical genetics. Wet-bench-based work will vary depending on the project and any findings, but could include PCR, Sanger sequencing, and more.

Additional Training Opportunities:

These can of course be tailored to the fellow’s needs. Purdue’s veterinary college has an internal research day at which the fellow can present each year (likely in poster format). Campus-wide research galas are also opportunities for poster presentations. Each fall, Purdue hosts a speaker from the Grant Writers’ Seminars and Workshops organization, which is a one day workshop covering all aspects of composing and submitting NIH grants; the fellow could attend this once during the two year period. There is also every other year the “Conference on Canine and Feline Genetics and Genomics”; since this will occur once during the two year fellowship, the fellow will be encouraged to attend and submit an abstract for presentation (poster or oral). Other clinical discipline-based conferences will certainly also be considered. Our laboratory group conducts a journal club once monthly with the animal genetics group in Purdue’s Animal Science Department (this group is livestock-based); the trainee will be expected to attend the journal club and present a paper once or twice each year. Finally, depending on funding and trainee plan, the fellow would also be encouraged to attend a module or two at the Summer Institute on Statistical Genetics, normally held at the University of Washington (Seattle, WA), at the end of the first year of the fellowship.