Poster Abstract: Veterinary undiagnosed diseases network translates rare disease knowledge between humans and animals

Anne Maguire, Research Fellow, Auburn University

Abstract

We are announcing the formation of a veterinary undiagnosed diseases network, with the purpose of improving health outcomes for animals and people with rare disease. We present a collaborative approach to represent all stakeholders: academia, industry, and owners/patients. The goals of academic participants are to 1) research new variants for monogenic rare diseases in animals, 2) maintain a database of these variants, and 3) discover new therapeutics to treat rare disease in humans and animals. To our partners in industry, we offer opportunities to improve diagnostic genotyping panels through exclusive early access to newly-discovered variants and access to client-owned animals with rare disease for clinical trials. For owners of animals with rare disease, we offer access to advanced, customized, diagnostic and treatment options, as well as the opportunity to eliminate rare disease from breeding stock. To determine the feasibility and impact of this network, we have started with a pilot project to identify new, monogenic, causative variants for 10 dogs diagnosed with idiopathic epilepsy. We use PacBio long-read sequencing at 30x coverage and a bioinformatics pipeline modeled after established practices in the Undiagnosed Diseases Network. By connecting all stakeholders who are passionate about genomics and translational medicine, the veterinary undiagnosed diseases network will improve the diagnosis, treatment, and quality of life for animals and people with rare disease.