International genetic experts converge to study fatal flaw in Friesian horses

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The Fenway Foundation for Friesian Horses has joined with the Gluck Equine Research Center at the University of Kentucky and Wageningen University in The Netherlands to study the megaesophagus and aortic rupture genetic flaw in Friesian horses.
The Fenway Foundation for Friesian Horses has joined with the Gluck Equine Research Center at the University of Kentucky and Wageningen University in The Netherlands to study the megaesophagus and aortic rupture genetic flaw in Friesian horses. Image by AlkeMade

A group focused on the health and protection of Friesian horses is joining with renowned researchers in the US and The Netherlands to explore a specific genetic issue in the breed.

At the behest of the world governing body for the breed, the KFPS (Koninklijke Vereniging “Het Friesch Paarden-Stamboek”), the Fenway Foundation for Friesian Horses has partnered with genetic researchers from the Gluck Equine Research Center at the University of Kentucky and Wageningen University in The Netherlands to work towards unlocking the genetic code that causes the megaesophagus and aortic rupture genetic flaw in Friesian horses.

The US-based Fenway Foundation is a non-profit group established in 2010 to focus on equine health care, genetic studies and Friesian horse rescue.

The goal of the new research project is the development of a genetic test that will assist in breeding decisions and hopefully over time eliminate this debilitating and sometimes fatal genetic flaw in the breed.

Many frozen samples from horses with the megaesophagus and aortic rupture genetic flaw have already been collected and are stored in The Netherlands. Image by AlkeMade

The Gluck/Wageningen/Fenway Friesian Genetic Research Initiative research team comprises Kathryn Graves, Ernest Bailey, and Theodore S Kalbfleisch, from the Gluck Equine Research Center at the University of Kentucky, and Bart Ducro, an assistant professor at the Animal Breeding and Genomics Group at Wageningen University. Together with Ids Hellinga, Executive Director of the KFPS, Ducro has been involved in several Friesian horse projects, including the development of DNA-tests for dwarfism and hydrocephalus. He has also previously been involved in the research on aorta rupture and megaoesophagus.

The Gluck/Wageningen/Fenway research will require DNA samples from very specific affected and control candidates. Already, many blood samples from horses with aortic rupture or megaesophagus have been collected and are now stored in The Netherlands. The KFPS will work with researchers in Europe to gather more genetic material from affected candidates in that substantially larger Friesian population.

More on the researchers:

Kathryn Graves, PhD: After completing her doctorate degree at Cornell University, Graves joined the University of Kentucky in 1986 to expand the new Horse Blood Typing Lab established by Dr Ernest Bailey. In 2001 DNA testing began to replace blood typing for parentage verification and the lab became the Animal Genetic Testing and Research Lab. In 2005 Graves became the director of the program and in 2008 the lab was moved to the Gluck Equine Research Center where it was renamed the Genetic Testing Lab at Gluck. Genetic discoveries at Gluck are incorporated into tests offered by the laboratory. The lab also has its own research program and Graves discovered the mutation responsible for JEB (Junctional Epidermolysis Bullosa) in the American Saddlebred Horse. She bred, trained and showed American Quarter Horses for 30 years and now enjoys breeding, training and showing Boston Terriers.

Ernest Bailey, PhD: Bailey earned his PhD in genetics at the University of California, Davis, then joined the faculty at the Gluck Equine Research Center at the University of Kentucky. He and his students study genetics and genomics of horses including development of the gene map and genome sequence as well as the discovery of genes responsible for coat color traits and diseases in horses. He is the coordinator of the USDA-NRSP8 program for the horse genome, past president of the International Society for Animal Genetics and has served on the editorial boards of several journals for veterinary science and genetics. During his career, he published more 160 scientific articles and the book Horse Genetics.

Theodore (Ted) Kalbfleisch, PhD: Kalbfleisch joined the University of Kentucky Gluck Equine Research Center in 2019. His work focuses on a secondary analysis of equid genomes and transcriptomes. Previously an associate professor at the University of Louisville School of Medicine, Kalbfleisch earned his doctorate in physical chemistry from Boston University and his bachelor’s degree in chemistry from UofL. He is originally from Louisville.  In 2018 he was the first author on the paper describing the updated reference genome (EquCab3.0) for the horse.

BJ (Bart) Ducro: Ducro has a background in quantitative genetics and within his group is involved in research and teaching horse breeding and genetics. His research includes breeding values for sport and health traits, genetic diversity (inbreeding) within and across horse breeds as well as some genomics studies (GWAS, Genomic Selection).

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