Samples Needed For Poodle Health Research
Studies below are currently seeking research samples. For more on research being supported by PCAF, see PCA Foundation News on our home page.
New Study on Genetics of Eye Disorders in Toy and Miniature Poodles
The PCA Foundation is excited to fund a major research initiative now under way to identify gene defects involved in three inherited eye conditions in Toy and Miniature Poodles: Optic Nerve Hypoplasia, Micropapillae, and Juvenile Cataracts. This project is a partnership between OptiGen and the University of Pennsylvania and will be led by Dr. Gustavo Aguirre. Of course, Dr. Aguirre is well known in the Poodle world for PCAF-supported research that identified the gene mutation causing prcd-PRA and led to a DNA test that allowed Poodle breeders to end the toll of prcd-PRA blindness on our breed. If you have a dog with any of the three conditions being studied in the new project, please go to www.optigen.com, and click on the Research tab to see how you can help.
Research on Genetic Basis of Addison’s Disease in Standard Poodles
PCAF is currently funding University of Minnesota researchers searching for genes possibly linked to Addison’s disease in Standard Poodles. The team needs samples from dogs with Addison’s and dogs over age 10 who do not have Addison’s. They are especially interested in samples from “trios,” a dog that has Addison’s disease and both of its parents. For more information, check http://z.umn.edu/addisons. The researchers will present an update at the 2017 PCA Foundation Seminar.
UC Davis Studies of Autoimmune Disease and Genetic Diversity
In their initial PCAF-supported research on the genetics of sebaceous adenitis (SA), study leader Niels Pedersen, DVM, PhD and collaborators were unable to find a genetic basis for the disease. In the process of their studies, they have been able to dissect genetic diversity in the breed in terms of maternal (mitochondrial), paternal (Y haplotypes), DLA class II haplotypes, entire DLA region haplotypes, and genome-wide markers (SA Research Update). With continued PCAF support, they are now studying genetic diversity in certain genes and gene polymorphisms that have been recently associated with autoimmunity in humans. See our PCAF home page for the latest on genetic diversity profiles now available from this team for Standard Poodles and the expansion of the diversity research to Miniatures and Toys. Your Minis and Toys can become involved in this exciting work!
Dr. Pedersen is still interested in collecting DNA samples from Standard Poodles with confirmed SA and/or Addison’s disease, as well as immune mediated hemolytic anemia (IMHA), immune mediated thrombocytopenia (IMTP) and other less common autoimmune conditions. DNA from healthy dogs from lines known to be free of autoimmune diseases is also needed. You can use the same instructions and forms used for SA samples. Click here to download: Sample Submission Form. Just substitute the particular autoimmune condition for sebaceous adenitis in the form. If you have questions, you can reach Dr. Pedersen at email@example.com.
For a surprise (or not!), check out results of a fascinating genetic comparison of Standard and Miniature Poodles by Dr. Pedersen and his colleagues. Click here: Genetic Comparison of Minis and Standards.
Chronic Hepatitis in Standard Poodles
Researchers at Colorado State University are studying Standard Poodles with chronic hepatitis, a severe and often fatal disorder with inflammation and death of liver tissue. Funded by PCAF and led by David Twedt, DVM, DACVIM, the researchers are collecting information and samples to accurately document and describe chronic hepatitis and to determine the cause(s). They hope to develop effective ways to prevent and treat the condition.
Canine chronic hepatitis is seen most often in middle-aged to older dogs. Initially, liver enzyme tests are abnormal, but the dog seems healthy. With increasing liver damage, signs may include a sudden onset of jaundice, decreased appetite, vomiting, lethargy or abdominal distention, with possible progression to liver cirrhosis and death.
For their research, Dr. Twedt and his colleagues need a sample of liver tissue from the affected Standard Poodle (fresh from a biopsy or preserved in formalin), a small blood sample, a four generation pedigree (if available) and an owner consent form. The study can help reimburse your veterinarian for collection and shipping of samples, and planned biopsies can be processed at no charge through the Colorado State team’s laboratory. The researchers will be happy to talk with you and your veterinarian to determine whether your dog should be entered into the study.
For more information, please contact Dr. Twedt or Dr. Allison Bradley:
|Dr. Allison Bradley
|Dr. David Twedt
Legg-Calve-Perthes Disease (LCP) and Patellar Luxation (PL) in Toy and Miniature Poodles
PCAF is funding a Poodle-specific Clemson University study on these common orthopedic disorders that appear to run in families. Breeds of small stature comprise the overwhelming majority of LCP cases, strongly suggesting a genetic component, and Poodles are among breeds that appear predisposed to develop PL. Using whole genome association mapping, the Clemson team is seeking to identify genes involved. Currently, they are analyzing data from their initial genomic study of 40 Poodles, with some promising leads. In order to complete their work, they still need samples from affected dogs! If you know owners of Toy or Miniature Poodles with LCP or PL, please encourage them to participate. For each dog, the researchers need a blood sample, pedigree, and documentation of LCP and/or PL diagnosis. Forms and shipping instructions are available by contacting Dr. Alison Starr-Moss at (864) 656-6877 or at firstname.lastname@example.org.
Polymicrogyria In Standard Poodles: Samples Still Needed from Affected Dogs by Dennis O’Brien, DVM, PhD (Note: In addition to describing polymicrogyria, Dr. O’Brien explains how his team is searching for the gene involved.)
The Comparative Neurology Program at the University of Missouri has continued our research into polymicrogyria in Standard Poodles. This disease appears to be inherited as an autosomal recessive trait. Affected pups are born with a brain malformation call polymicrogyria. The brain is normally folded into a wrinkled surface. The folds are call “gyri” from the Greek word “gyros” meaning “to turn” as in gyroscope or gyrate. In polymicrogyria, rather than forming large, well organized folds, the back portions of the brain form many (poly-) small (-micro-) folds (-gyria). The area of the brain affected is the portion that controls vision. Thus affected pups have varying degrees of vision problems and may circle incessantly. While affected pups can survive, they tend to have serious vision difficulties and may develop seizures and major behavioral issues as they get older.
To map the gene responsible for polymicrogyria, we utilized the latest generation of SNP chips, automated gene mapping tools that permit us to find an association between a disease and markers in an area of the genome. With this approach we located the area where the gene for polymicrogyria should reside to a small area of the genome referred to as a locus. Within this locus there are 17 genes, one of which is probably the culprit.
We utilized the grant provided by the PCA Foundation as matching funds to leverage a $60,000 challenge grant from the University of Missouri. With these funds, we will sequence the entire genome of an affected pup, Oliver. To put this in perspective, this will essentially be a repeat of what was accomplished in the human and canine genome projects seven and five years ago respectively at a cost roughly 1,000 times what we will be investing. Knowledge and technology in the field have advanced so rapidly that we can now apply these same techniques to an individual dog, the ultimate in personalized medicine. This approach will allow us to identify all the variations between the pup with polymicrogyria and what is known about the genome of dogs in general. Knowing the locus where the mutation responsible for polymicrogyria lies will allow us to focus on the changes within that area. We can then investigate those genes and with luck identify the mutation. At the same time, we will be adding to the overall knowledge about the genome of the dog in general and Standard Poodles in particular, the latter already immortalized when Craig Venter, the leader of the human genome project, initiated research into canine genomics when he sequenced about 80% of the genome of his own Standard Poodle, Shadow.
As with any research, there are still pitfalls ahead and we cannot guarantee we will succeed. Nonetheless, we are optimistic that we will find the gene responsible and provide a DNA test for polymicrogyria as we did for neonatal encephalopathy. We welcome additional samples from polymicrogyria-affected poodles. For information on sample submission, please contact Liz Hansen at 573-884-3712 or Hansenl@missouri.edu.