Research Update 02945-MOU EY1: Understanding the genetic basis of Addison’s disease in Portuguese Water Dogs

Over the first year of this study, we have focused primarily on sample collection. We collected samples mostly through PWD-related channels working directly with our collaborators in the PWDF/PWDCA. We also attended the PWD National Specialty in September 2021 to promote the study and collect samples, and we established a collaboration with Dr. Anita Oberbauer at UC Davis to share samples that she had already collected. To date, we have in hand 123 samples from affected PWDs and 188 samples from unaffected PWDs. Only a subset of these samples (50 affected, 44 unaffected) will qualify for our initial genotyping efforts based upon relatedness, but we are glad to have made such quick progress with sample collection thus far. We plan to continue our outreach efforts to try to reach our goal of 100 affected and 100 unaffected unrelated samples.

In addition to collecting DNA and cortisol samples from affected/unaffected dogs, we have also started submitting samples to core facilities for genotyping efforts (Aim 1), MHC typing (Aim 2), and whole genome sequencing (Aim 3). This work is actively underway, and we hope that by the next progress report we can share some initial data from our genotyping efforts. We look forward to continued fruitful collaborators with the PWDF and PWDCA on this work.