The ASSA Research Advisory Committee received a letter from Andrew Lundquist, MD, PhD of the Broad
Institute, Cambridge, MA announcing a call for blood samples from Shelties with renal dysplasia or any form of kidney disease. He and others at the Broad Institute have been working on the genetics of renal dysplasia in Boxers. They have identified a region of interest that contains a gene that is commonly affected in human cases of renal dysplasia and now wish to obtain blood samples from other breeds of dogs to advance their research.
Dr. Lundquist is defining renal dysplasia as renal disease/failure in young to middle aged dogs, and is interested in receiving blood samples for DNA evaluation from affected dogs. Kidney biopsy samples would also be helpful, but are not required. The letter from Dr. Lundquist, with contact information, is attached and will be placed on the ASSA website.
Feel free to share this information with others.
Andrew Lundquist, MD / PhD
Dog Genome Group
Broad Institute
Cambridge, MA
Phone: 617-714-7794
Email: dog-info@broadinstitute.org
Date: 7/29/13
Re: Canine renal dysplasia: a call for more samples from affected dogs
Dear Shetland Sheepdog Community,
We hope you are enjoying a pleasant and relaxing summer. Here at the Broad Institute, we continue to work towards understanding the genetics of canine renal dysplasia. To this point we have collected a number of samples from affected and unaffected Boxers (as well as sporadic cases from other breeds).
We have identified a region of interest in Boxers that contains a gene that is commonly affected in human cases of renal dysplasia. Of note, renal dysplasia is a common form of kidney disease in humans and a study in this month's New England Journal of Medicine provided further genetic insight into human disease. Currently at the Broad we are analyzing genetic data from experiments designed to focus on the region of interest in Boxers to identify the disease causing variants.
Yet, to truly understand the cause of renal dysplasia in Boxers and other breeds we need more samples

from affected dogs. Currently, our project has focused on Boxers as we have the largest number of samples from this breed. However, we will need additional samples from both Boxers and other breeds to confirm our findings. If you have a dog less than five years old (any breed) with renal dysplasia (or any form of kidney disease), we hope you would consider participating in our research. To participate, we require a sample of your dog's blood (5ml to be drawn at the veterinarian's office) from which we can extract DNA. Please send us an email ( dog-info@broadinstitute.org
) if you wish to donate a sample and we will get back to you with further instructions. Thank you in advance for all of your help with this difficult disease!
Sincerely,
Andrew Lundquist, MD / PhD
Broad Institute, Cambridge, MA