Tag: Addison’s

Over the course of this study, we collected DNA samples from hundreds of affected and unaffected PWDs. We performed high-coverage whole-genome sequencing of 16 PWDs (and used publicly available resources to acquire an additional 20 high-coverage samples); low-pass whole-genome sequencing of 101 PWDs, and class II MHC genotyping of the same 101 PWDs. We focused our principal analyses on the 101 low-pass/MHC PWDs because these dogs formed the least-related population out of the hundreds of DNA samples collected.

One of the main goals of this study was to perform a genome-wide association study to look for regions of the genome associated with Addison’s disease in the breed. We performed this GWAS using a variety of approaches with the imputed low-pass data, but unfortunately, we were unable to find a genomic region significantly associated with Addison’s disease. This implies that within PWDs, Addison’s may be: (1) fixed, meaning all PWDs are equally predisposed; (2) highly polygenic, meaning that many genomic regions are responsible for Addison’s disease, however our study did not have enough samples to identify these multiple regions; (3) caused by mutations that are not easily detectable by the methods we used, such as structural genomic variants; (4) caused by a combination of these factors. Continue reading “Research Update 02945-MOU FINAL: Understanding the genetic basis of Addison’s disease in Portuguese Water Dogs” →

Over the first 3 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 151 samples from affected PWDs and 319 samples from unaffected PWDs. Based upon relatedness, we have performed low-pass whole genome sequencing on 46 affected dogs and 55 unaffected dogs, and we have used data from these genotyping efforts to perform a genome-wide association study (GWAS). This initial study using traditional GWAS analysis approaches did not detect any major genetic differences between affected and unaffected PWDs. This is consistent with our thinking that the disease is genetically “complex.”

Continue reading “Research Update 02945-MOU EY3: Understanding the genetic basis of Addison’s disease in Portuguese Water Dogs” →

Over the first 2.5 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 134 samples from affected PWDs and 169 samples from unaffected PWDs. Continue reading “Research Update 02945-MOU MY3: Understanding the genetic basis of Addison’s disease in Portuguese Water Dogs” →

Over the first two 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.

Continue reading “Research Update 02945-MOU EY2: 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. Continue reading “Research Update 02945-MOU MY2: 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. Continue reading “Research Update 02945-MOU EY1: 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. Continue reading “Research Update 02945-MOU MY1: Understanding the genetic basis of Addison’s disease in Portuguese Water Dogs” →

The goal of this project is to identify autoantibodies that are present in the blood of dogs who are newly diagnosed with Addison’s disease in three breeds: Standard Poodles, Portuguese Water Dogs, and English Cocker Spaniels. To accomplish these goals, we have been focusing on (1) collecting blood samples from dogs across all three target breeds, and (2) employing methods that allow us to detect these autoantibodies. Continue reading “Research Update CHF 02428 EY-3: Identifying the Disease-Defining Autoantibodies in Canine Addison’s Disease” →