Gene mutation study applies to veterinary, human medicine

Young researcher awarded for work at annual veterinary scholars symposium
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Dr. Kari J. Ekenstedt already understands in her short career as a researcher that one may work for a long time before making any breakthroughs. Fortunately for her, that hasn't been the case.

Dr. Ekenstedt, who received a DVM degree from the University of Minnesota in 2005 and a doctorate this past April, along with her team, discovered two chromosomal regions that have a strong association with Leonberger polyneuropathy. In fact, they have already identified one gene mutation and hope to find the other soon.

Dr. Ekenstedt
Dr. Kari J. Ekenstedt

"It's a very heartbreaking disease for the owners and breeders of these dogs, because the really severely affected dogs are often quite young and there's no cure, so finding the mutation is going to help people make breeding decisions and hopefully avoid producing these puppies in the first place," Dr. Ekenstedt said.

The team's work suggests that Leonberger polyneuropathy is comparable, in some aspects, to Charcot-Marie-Tooth disease, a collection of neurologic diseases affecting people. The hope, she said, is that they can make discoveries in affected dogs that will translate into a better understanding of Charcot-Marie-Tooth disease in humans. "Potentially, if the dog disease turns out to be a good model for the human disease, they may be able to try out new therapeutics in dogs that could ultimately help people," she said.

For her work on the study, Dr. Ekenstedt was honored with the Young Investigators Award at the 2010 Merial-National Institutes of Health National Veterinary Scholars Symposium, held Aug. 5-8 in Athens, Ga. The award, sponsored by the AVMA and American Veterinary Medical Foundation, goes to a graduate veterinarian pursuing advanced research training through a doctoral or postdoctoral program.

Out of 35 applicants, five finalists were invited to attend the symposium and present their work as a 15-minute platform talk.

Dr. Ekenstedt's work, "Whole genome association analysis reveals two loci strongly associated with Leonberger polyneuropathy," was selected as the winner.

Dr. Ann E. Hohenhaus, chair of the AVMA Council on Research and one of eight judges for the competition, said, "What she did was take an uncommon breed of dog, and those dogs have a neurologic problem that is a model for human disease. She not only found the area in the genome where the gene defect was but also identified (one mutation) that seemed to be related to this disease. It was a complete project—a thorough evaluation of the disorder on a genetic level."

The 10th annual symposium capped off summer training programs across the United States and Canada that introduce veterinary students to biomedical research. This year marked the first time the conference welcomed European veterinary scholars from international summer programs supported by Merial. About 360 students presented posters; 18 students were recognized for their presentations in various areas of veterinary medicine.

"These are the widest variety of posters you could ever imagine in your entire life. One of my favorites was a preliminary study from Tufts looking to evaluate a program called Reading Education Assistance Dogs. These are certified therapy dogs that work as literacy mentors in schools and libraries. Kids read to the therapy dog instead of an adult. The study looked to see if reading to a dog made any difference in the child's ability to read, and it looks like it does," Dr. Hohenhaus said. The researchers hope to continue their work in this area on the basis of the results of this study.

A cadre of speakers during plenary sessions rounded out the symposium's events, giving talks on this year's theme, "Beyond One Health."

The keynote speaker was Dr. James G. Fox, director of the Massachusetts Institute of Technology's Division of Comparative Medicine. Other notable speakers included Dr. Guy Palmer, director of Washington State University's School for Global Animal Health; Dr. Lisa Freeman, vice president for research and graduate studies at Northern Illinois University; and Dr. Gregory Bossart, senior vice president of veterinary services and the chief veterinary officer for the Georgia Aquarium.

Dr. Ekenstedt said the sessions covered a wide spectrum of topics "because there's such a spectrum of research going on, but they still made it relevant for everybody."

In all, 402 people attended the event. Dr. Hohenhaus said the symposium gives students a chance not only to meet with peers doing research but also state-of-the-art speakers who are established and internationally recognized researchers.

"For most of the students, this is the first scientific gathering they've attended, so they're energized and excited for the opportunity for the exchange of information. Even if one person was working on the influenza virus and the person next to them was working on pain measurement postsurgery, you could still find them talking about the challenges of doing research and how they overcame problems in their studies that will serve them well in the future for whatever research they pursue next," Dr. Hohenhaus said.

Sponsors of the symposium included Merial, The National Institutes of Health, the Burroughs Welcome Fund, the AVMA, the AVMF, the Association of American Veterinary Medical Colleges, and other veterinary professional organizations.

More information on the symposium speakers and a list of all Young Investigators and poster session award winners is available at