NCL: Joy's Story

Single Mom Juggles Research Career with Volunteer Work

Like many women, Joy takes a while to get ready for work. Shampooing, combing out, and blow drying alone take about an hour. Joy holds down two jobs, and she likes to look her best. In the evening, she does volunteer work at a children’s hospital, and her “day job” is in genetic research. A single mom with two of her kids still at home, Joy leads a very active life.

But Joy is not your average career woman. She is, in fact, a nine year-old Tibetan Terrier. For eight years, she’s been part of the pet therapy program at Lucile Packard Children’s Hospital at Stanford University Medical Center, where her warm personality and ability to do tricks provide the patients and their families with a brief respite from their own problems.

Joy is also a contributor to the Tibetan Terrier DNA Bank and Registry, an ongoing multi-national program to collect DNA for research and the development of genetic tests. And while Joy is in good health, all purebred dog breeds have the potential to develop several different genetic conditions. In the case of Tibetan Terriers, one of them is a condition called ceroid lipofuscinosis, or CL.

An affected dog of Joy’s age might have: vision problems; ataxia, or movement problems; and signs of neurological deterioration, including dementia-like behavior and periodic seizures. CL has a human equivalent, called Batten Disease.

When Stuart and Lois Eckmann, Joy’s owners, visit with a Batten Disease child at Lucile Packard, she’s helping in more ways than one. In addition to providing a soft, cuddly diversion, Joy and all the other dogs in her breed’s DNA bank are making a significant contribution to human Batten research efforts.

Originally conceived and developed by Stuart Eckmann, the Tibetan Terrier DNA Bank has provided genetic material and study subjects for a research project at the University of Missouri School of Medicine under Martin L. Katz, Ph.D. Katz holds joint appointments in the medical and veterinary schools.

In a collaborative effort, Eckmann, who oversees the Tibetan Terrier Club of America’s health programs, has been referring owners of affected dogs to Katz. This has allowed Katz and his colleagues in the veterinary school, ophthalmologist Kristina Narfstrom, DVM, Ph.D., and neurologist Dennis O’Brien, DVM, Ph.D., to examine these dogs.

The cooperation of owners with end-stage CL dogs has also allowed Katz to study retinal and neural tissue for the presence of the characteristic “inclusions” found in CL-affected tissue. The result has been that they’ve been able to offer a much more complete description of the condition than any existing veterinary textbook – a condition that had previously eluded the diagnosis of many well-trained veterinary neurologists.

In what is known as a “candidate gene” approach, Dr. Katz sequenced the genes of affected Tibetan Terriers in specific areas thought to be comparable to those where human markers associated with the condition have been identified. Using this approach, he was able to rule out mutations in known CL genes as the cause of the Tibetan Terrier disease.

Identification of the CL mutation in Tibetan Terriers will now require that the mutant gene be located by a process called mapping or linkage analysis. This involves detailed comparison of the DNA from a large number of affected dogs with the DNA of their parents and affected littermates.

The larger the number of dogs that are included in the analysis, the more precisely the disease mutation can be localized within the canine genome. Dr. Katz is hopeful that this will lead to identification of the disease-causing mutation, or at least a closely linked marker that can be used to screen for affected and carrier dogs.

Both Eckmann’s DNA bank and Katz’s CL study were funded by the American Kennel Club Canine Health Foundation. According to Wayne E. Ferguson, the foundation’s president, “The purebred dog population provides an ideal model for genetic research. Their pedigrees provide detailed multigenerational relationship information; their shorter lifespans allow us to compress studies that would take much longer with people, if they were even practical in their design; and, more than any other species, their living conditions are the closest to our own.”

To date, the AKC Canine Health Foundation has funded more than 275 studies, at 54 different universities, involving more than 89 different breeds of dogs. “As researchers complete the canine genome map, we’re increasingly able to correlate our research efforts with human studies. We expect the crossover opportunities to be phenomenal. The Canine Health Foundation is proud to support the research that will lead to longer, healthier lives for our canine (and human) neighbors.” said Ferguson.

Lance Johnston, executive director of the Batten Disease Research and Support Association, is equally optimistic. “Dr. Katz’s work with Tibetan Terriers has the potential to ‘fast forward’ the entire research process. And the willingness of the dog owners to allow Dr. Katz to study tissue samples provides a unique opportunity not readily available from human studies.

“While we sympathize with the dog owners who are experiencing the same things with their dogs that we are with our children, we’re very grateful to them for this opportunity to work together. We hope that this collaboration will prove in one more way that the dog is man’s best friend,” he said.

That’s a pretty good bet, if Joy keeps her day job.

(Permission to Post Granted to BCSA)