Natasha Olby, associate professor of neurology, has been leading efforts over the past ten year to research a canine neurodegenerative disease that she first identified and classified at the University Veterinary School. The condition is a strain of a family of diseases called Neuronal Ceroid Lipofuscinoses (NCL), that lead to deterioration of mental and motor skills in both human and animal species.

According to Olby, her research efforts, in conjunction with those of a French molecular biology research group, “have lead to the discovery of the gene which is responsible for this disorder.” Because this gene may be responsible for similar neurodegenerative diseases in humans, the discovery is important for the eventual cure of NCLS in canines and humans alike.

One of the first cases of NCL Obly encountered was at the Animal Hospital on campus, ten years ago. The American Staffordshire Terrier she observed had decreased levels of coordination, muscle spasms, and clumsiness, which are all typical symptoms of then-unidentified adult-onset canine NCL. After trying to match the symptoms with a diagnosis, she realized that this unique disorder had not been previously identified in canines. In 2004, Olby and her fellow NCSU researchers published an article on their discovery of this increasingly prevalent canine disorder in Human Genomics.

What Olby found to be the most interesting phenomenon, however, was the prevalence of this disease within the American Staffordshire breed. This observation allowed her to come to the conclusion that this canine strain of NCL was a genetic disorder, specifically a recessive one.

A recessive genetic disorder, Olby said, is one that shows up in offspring only when both of the recessive alleles are inherited from the parents.

“If only one allele is present, the individual is a carrier of the disorder but, in the case of this disorder, not affected,” Olby said.

After identifying the disease and publishing her research groups’ observations in 2004, Olbys’ lab partnered with Marie Abitbol’s molecular biology research group in France in order to try to find the specific gene responsible for canine NCL.

Just this year, the combined efforts of the two research groups led to a successful and critical discovery. The researchers were able to find the exact gene responsible for this disease in American Staffordshire Terriers.

The implications for this discovery are tremendous, according to Olby.

“Preventative medicine is the best medicine and that’s exactly what this discovery will make us better at,” Olby said. “We haven’t found a cure but we’ve made genetic testing for this disease possible, which in itself could save millions of potential lives.”

Word of this discovery has reached students who are either interested in this topic or are majoring in a related area, and the response has generally been excitement.

Deah Barakat, a sophomore in business administration, said she didn’t know the depth and reach of the research occuring at the University before her freshman year.

“Coming into NC State, I didn’t know much groundbreaking research took place here but now that I do, I feel even more proud to be part of this University,” Barakat said.

Kaaenaat Mustafa, a junior in business administration with a minor in biology, said, “the best thing about this research is not only that one of our own researchers was leading this but rather, these findings will help improve and save the potential lives of millions of dogs and their owners, which is priceless.”

Because the symptoms of NCL do not become visible until about three to six years of age, most breeders don’t know if they have bred two affected, carrier, or normal canines Genetic testing made possible through the discovery of this gene, according to Olby, will allow dog owners to be certain of whether or not the dogs they have bred will be afflicted with NCL.

Olby said the next step will be to relate the discovery of this gene in canines to humans.

“This discovery has implications in terms of human medicine as well because NCL has a form which afflicts people,” Olby said.

According to the National Institutes of Health, the same gene that is responsible for NCL in dogs is also responsible for Kufs disease in adults and Batten’s disease in children. Therefore, just as in the case of dogs, researchers hope that genetic testing will one day be done for humans to bring awareness to people of whether or not they possess this gene so they can be treated earlier for the disease.