A collaborative study in Helsinki between genetic scientists and veterinarians describes a myoclonic epilepsy syndrome in dogs and discovers the genetic cause as the DIRAS1 gene. The dogs began having seizures at around 6 months old, usually while asleep. This canine epilepsy syndrome is much like the human juvenile myoclonic syndrome in certain aspects. The study therefore has meaningful possibilities for epilepsy research across different species. The DIRAS1 gene had not been connected to any neurological dysfunctions before the study and genetic scientists are looking to see how this could help humans with juvenile myoclonic syndrome by finding the genetic cause. Several veterinarians and geneticists studies studied 600 Rhodesian Ridgebacks and about 1000 epileptic dogs in other breeds. They discovered that the gene was specific for Rhodesian Ridgebacks. This allowed vets to produce a genetic test to screen the puppies of this breed to allow breeders to alter their breeding plans, reducing breeding more with the syndrome.
This scientific example is one of multidisciplinary work. The geneticists worked to discover how this could be applied to humans as the veterinarians worked on how this can help dogs and their owners. The veterinarians worked on studying the dogs as that was their area of expertise, and the geneticists words on the DNA in their labs. Their jointed efforts discovered an abnormality that can help both humans and dogs, and even ended up producing a genetic test to discover which dogs will develop the syndrome. Without the two different fields of science collaborating, breeders would continue breeding and selling these special needs dogs that could avoid having the disease in the first place. And genetic scientists would still be trying to figure out how to detect juvenile myoclonic syndrome in humans with little to no leads. The collaboration of these two fields are going to save a lot of people and puppies from unnecessary suffering in the future.
University of Helsinki. “Significant epilepsy gene discovery in dogs.” ScienceDaily. ScienceDaily, 21 February 2017. <www.sciencedaily.com/releases/2017/02/170221110730.htm>.