黑料正能量

Muscle disease affects hundreds of thousands of horses each year, causing pain, stiffness and a reluctance to move. Owners search for answers, running countless tests and spending thousands of dollars, but often don鈥檛 get a clear diagnosis.

For Carnegie Mellon alumnus Paul Szauter, a career spent in genomics pointed toward a better solution 鈥� one rooted in tools already transforming human health. In 2015, he founded to bring genomic diagnostics to the stable.

鈥淲hen we started, there were genetic tests for more than 5,000 inherited diseases in humans. In horses, there were only 16,鈥� Paul, EquiSeq鈥檚 chief scientific officer, says.

For hundreds of years, horses have been bred for speed, strength, sprinting power or endurance. While selecting for genes that enhance muscle performance has its advantages, it also has a downside 鈥� a surprisingly large number of heritable muscle diseases.

鈥淗orses are bred deliberately,鈥� Paul says. 鈥淚f we had a genetic test that predicted the onset of these diseases, we could, over several generations, breed it out. And that鈥檚 what we鈥檙e trying to do.鈥�

EquiSeq, based in New Mexico, develops and sells DNA tests that identify genetic variants linked to muscle disease in horses. The company鈥檚 current test detects damaging variants across six different horse genes, all predictive of muscle disease. Since entering commercial use in 2017, the tests have been used in more than 15,000 horses worldwide and are sold directly to consumers, including horse owners and breeders. The company has two U.S. patents with extensive international coverage.

Keeping pace with a rapidly changing field

Paul鈥檚 path to founding EquiSeq began at Carnegie Mellon, where he graduated with a bachelor鈥檚 degree in biology in 1976.

鈥淚 had a fantastic time as a bio major,鈥� Pauls says. He went on to earn his Ph.D. in genetics from the University of Washington before undertaking postdoctoral research in molecular biology at the Massachusetts Institute of Technology. Following several academic positions as a fruit fly geneticist, he transitioned to genomics and bioinformatics at the Jackson Laboratory, a hub for mouse genetics. The Human Genome Project was underway, and DNA sequencing became faster and cheaper. Paul saw genetics shift from slow, hands-on lab work to powerful data analysis.

鈥淚n genomics 鈥� my gosh 鈥� the field changes much faster than any one person鈥檚 career,鈥� Paul says. 鈥淚t鈥檚 been fantastic to watch.鈥�

Human medicine benefited first. Paul saw an opportunity to apply the advances made in human genetics to horses.

Harnessing ancient muscle genes for modern diagnosis

EquiSeq鈥檚 early work focused on polysaccharide storage myopathy type 2 (PSSM2), a progressive muscle disease that can cause chronic pain, exercise intolerance and an unpredictable decline. Through online communities, including Facebook groups dedicated to PSSM, Szauter encountered horse owners who were frustrated and exhausted.

鈥淧eople put all this time and love into a horse, and then it just goes to pieces,鈥� he says. 鈥淭hey鈥檇 been through all the diagnostic testing, spent thousands of dollars and still didn鈥檛 have a clear answer. Everyone was asking for help.鈥�

Paul knew he and his team had something to offer. The science behind EquiSeq鈥檚 genetic test is based on the fact that, at the microscopic level, muscle tissue from a human, a mouse or a horse is nearly identical.

鈥淢uscle genes are very old, and we can use everything that we鈥檝e learned from human disease or studying human disease in mice and apply that to the horse,鈥� Paul says. 鈥淲e鈥檝e identified a set of horse mutations that affect genes that are associated with muscle disease in human patients.鈥�

EquiSeq鈥檚 test detects mutations in six different genes, and the results report whether a horse has two normal copies, two mutant copies or one normal and one mutant copy for each of the six genes.

For horse owners, the test offers something that had long been missing. While muscle diseases such as PSSM are progressive and cannot be cured, early genetic diagnosis can guide training and dietary changes that significantly improve quality of life.

鈥淚鈥檝e found EquiSeq results to be extremely reliable for making decisions about diet and performance management,鈥� Stephanie Carter, a functional nutritional therapy practitioner, says. 鈥淚鈥檝e never had EquiSeq results mislead me in creating appropriate training and dietary recommendations to prevent or manage symptoms.鈥�

Passing on the reins

Paul and his team at EquiSeq continue to push the research on horse genetics forward, with the goal of discovering additional genetic variants. They are building an automated pipeline that compares horse genomes with known human muscle disease genes to identify potentially damaging variants for further testing. That simply wouldn鈥檛 have been possible even five years ago, Paul points out.

鈥淭he science is really exciting,鈥� he says. 鈥淎nd to watch what鈥檚 happening to the tools that are available right now is amazing.鈥�

Now 71, Paul jokingly describes himself as a recovering academic, but one thing hasn鈥檛 changed.

鈥淚鈥檝e never gotten over the fun of working with young people,鈥� he says. 鈥淲hat we鈥檝e started here 鈥� the people we鈥檝e trained 鈥� they鈥檙e going to take it the rest of the way.鈥�

For Paul, science is more than a career.

鈥淭here鈥檚 no joy in human civilization better than scientific discovery,鈥� he says. 鈥淰ery few people get to do it. It鈥檚 an enormous privilege.鈥�

With EquiSeq, that discovery is offering a way to improve equine health 鈥� now and for generations to come.