The cilia of mammals is the sensory organelle of our cells. Diseases that affect the cilia are called ciliopathies. A ciliopathy that causes both severe kidney disease and Leber congenital amaurosis, which is a blinding disease, is Senior-Løken Syndrome. The University of Pennsylvania researchers identified a dog with a similar blinding condition as Senior-Løken Syndrome. When the disease course was studied between human and canines, there were many similarities as well. The same gene was involved for both the human and the canine: NPHP5. An important observation from the dogs diagnosed with Senior-Løken Syndrome and humans diagnosed with the same ciliopathy is that despite functional vision during the day, the photoreceptor cells that function during daylight were still present. The cone cells were still preserved, but the rod photoreceptors were deteriorated. These cone cells, in both humans and canines, stayed preserved until very late in the course of the disease. NPHP5 was studied in the mutant canines and it was found that 33 other genes were affected by this mutation, some of which caused two other forms of retinal degeneration. However, unlike in humans where it can cause severe kidney disease when NPHP5 is the causation gene, the kidney structure and function was unaffected. This discovery is leading to the research of gene therapy for the mutant NPHP5 in canines, which will eventually lead to the advancement in gene therapy for humans with Senior-Løken Syndrome.
Finding connections between canine and human diseases is a reminder that we are all linked. I think that finding the causation gene NPHP5 and being able to test gene therapy in canines on that gene proves that animal models are a key role in furthering treatment and therapy of diseases. This is beneficial to the animals and to humans. Animal research is important, although sometimes an unpleasant topic to speak of, when we talk about furthering medical breakthroughs. Thinking of dogs as an animal model is hard for people because of their domestication as our household pets. However, humans and their pets are living longer, happier, and healthier lives due to the strives that animal models provide the biomedical field. This article interested me because the connection between animals and humans never fails to seize to amaze me on just how intertwined we are.