Research Update 02945-MOU MY1: Understanding the genetic basis of Addison’s disease in Portuguese Water Dogs

Over the first 6 months 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 to take steps toward genotyping efforts (Aim 1) and MHC typing (Aim 2). This work is actively underway, and we hope that by the next progress report we can share some initial data from these efforts. We look forward to continued fruitful collaborators with the PWDF and PWDCA on this work.

Presentations: Dr. Friedenberg gave a 50-minute talk at the Portuguese Water Dog National Specialty on September 29, 2021 in Norfolk, VA. This talk discussed the pathophysiology of Addison’s disease, Dr. Friedenberg’s research strategy for the funded grant, as well as some preliminary data. There was significant audience engagement via Q&A throughout the talk.

Dr. Friedenberg also participated in a Q&A webinar through the CARE website on September 18, 2021. While this webinar was not solely related to this study, he did discuss it and encourage qualifying dogs to enroll in the study.