Grant Amount: $25,000

Dr. Kerstin Lindblad-Toh, PhD, Broad Institute

January 1, 2013 - December 31, 2014

Sponsor(s): American Lhasa Apso Club, American Miniature Schnauzer Club, Inc., Bedlington Terrier Club of America, Collie Health Foundation, Orthopedic Foundation for Animals, TarTan Gordon Setter Club

Breed(s): Airedale Terrier, Bedlington Terrier, Boxer, Cairn Terrier, Gordon Setter, Lhasa Apso, Miniature Schnauzer, Shetland Sheepdog, Soft Coated Wheaten Terrier, Tibetan Spaniel

Disease(s): Renal Dysplasia

Research Program Area: Renal Disease

Abstract

Abnormal development of the kidneys, known as Renal Dysplasia, occurs in many breeds of dogs as well as humans. An increased prevalence in certain breeds such as Boxers, Miniature Schnauzers, Bedlington Terriers, Lhasa Apsos, Shetland Sheepdogs, and Soft Coated Wheaten Terriers suggests a genetic influence. Identification of the genetic cause in dogs is essential as there is no treatment and affected dogs progress to renal failure and death at a young age. Despite prior candidate gene studies, the genetic cause of canine renal dysplasia in various breeds remains unclear. It is unknown if the same gene is affected in all breeds with renal dysplasia or if different genetic variants exist in each breed. In this study Dr. Lindblad-Toh will conduct genetic and functional studies to identify the causative mutation in Boxers. Her research group will also collect additional samples from Miniature Schnauzers, Bedlington Terriers, Lhasa Apsos, Shetland Sheepdogs, and Soft Coated Wheaten Terriers. Genome-wide association studies in Boxers and other breeds will help dissect the genetics of canine renal dysplasia, improve our understanding of renal development in dogs and humans, and determine whether breed specific genetic tests will be required for prevention.