03121: Optimizing HITI CRISPR/Cas9 Gene Editing for Treating Defective Pyruvate Dehydrogenase Kinase 4 in Doberman Pinschers

Grant Status: Open

Grant Amount: $52,634
Christopher J Martyniuk, PhD; University of Florida
December 1, 2023 - November 30, 2025


Breed(s): Doberman Pinscher
Research Program Area: Cardiology
Donate to Support this Research Program Area

One Health: Yes


Approximately 10% of all dogs in the United States have some form of heart disease which can progress to heart failure. Novel therapeutic strategies are urgently needed to treat the disease. Doberman Pinschers affected by a specific form of dilated cardiomyopathy (or DCM) have a high mortality rate, with mean survival times less than 6 months following the first episode of congestive heart failure.

Dilated Cardiomyopathy in canines has been linked to two major genetic defects, including one gene called pyruvate dehydrogenase kinase 4 (PDK4). This metabolic gene is missing a DNA sequence that is required for optimal functioning of the heart. New approaches in gene editing show promise for treating cardiomyopathies. This project will use a technique called homology-independent target integration (HITI) to insert a corrected sequence into the homozygous cells with the mutation, restoring damaged cells to normal capacity. The overarching goal of this collaborative project is to use gene editing to modify the PDK4 gene in Doberman Pinchers, resulting in healthy heart cells. These genetic studies have broader implications for many other susceptible breeds that have increased risk of heart disease.


None at this time.

Help Future Generations of Dogs

Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.

Learn How to Help

Get Canine Health News:
Please leave this field empty
American Kennel Club Canine Health Foundation, Inc

8051 Arco Corporate Dr.
Suite 300
Raleigh, NC 27617

Tax ID# 13-3813813


© 2021 AKC Canine Health Foundation | Privacy Policy | Site Map

Site by Blackbaud, Inc.