Research Update 02945-MOU MY2: Understanding the genetic basis of Addison’s disease in Portuguese Water Dogs

Over the 1.5 years of this study, we have focused primarily on sample collection and running an initial set of genetics experiments. 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 and August 2022 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 155 samples from affected PWDs and 306 samples from unaffected PWDs. Only a subset of these samples (31 affected, 52 unaffected) will qualify for our initial genotyping efforts based upon relatedness and DNA quality, 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 recently submitted 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, in particular early results from Aim 1. We look forward to continued fruitful collaborators with the PWDF and PWDCA on this work.