Racing DNA helps scientist make strides with speed gene

Emmeline Hill doesn't like the term "luck". Perhaps it's the scientist in her. But she will concede that she's been fortunate.

Hill grew up around horses. Her grandmother, Charmian Hill, was the storied owner of one of Ireland's all-time favourite race horses, Dawn Run – a mare that made history in the mid-1980s as the only horse to win both the Champion Hurdle and the Gold Cup at Cheltenham. No horse has matched her since.

For Emmeline, horses were a constant in her early years. That and a conviction that her future lay in science.

It was while studying science in Trinity College that she came across genetics. She was hooked but still unsure how it might shape her career. It was the mid-1990s and genetics was still in its infancy. Hill was interested in working with horses but she ended up on a PhD in human genetics in a lab that was working on cattle genetics.

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She never thought at the time that she would see a full horse genome sequence (the complete map of its genetic material – its genes and their DNA). However, technologies advanced quickly and costs came down. By 2007, the horse genome sequence was reality. But Hill didn't wait that long. Iin 2004, she persuaded Science Foundation Ireland that she could apply the tools developed in human genetics and other animal genetics to horses.

"Luckily," she says, the forbidden word slipping out, "Science Foundation Ireland took a punt on me. It grew, I suppose, out of my passion for understanding something about evolutionary history and genetics. And then knowing that the technologies are exactly the same. At the end of the day, the DNA in a tube is DNA in a tube. I knew about horses, I knew about the industry, I knew the questions to ask and then I knew how they could be answered."

Entire genome

Tools are now readily available to allow scientists scan the entire genome. That wasn’t the case back then. Hill had to be selective in the beginning – choosing which of 30,000 genes might have potential in her study to understand how genes contributed to performance traits or athletic traits in the thoroughbred.

One of the genes she focused on was myostatin. Mutations in the gene had been shown in other animals to lead to unusual muscle traits. But Hill’s team was still taken aback when they discovered that myostatin is highly predictive of distance aptitude in thoroughbreds – which horses will perform better in sprints, or over longer distances.

"When we made the discovery in 2009, we weren't sure if there were other genes that might be more predictive. It was thought that there were multiple genes that would be contributing to athletic traits. But what we've subsequently found is that, remarkably and unusually, it appears that it is a single major gene contributing to the trait." Hill had found the speed gene.

“So, it was hypothesis-driven but we actually managed to find the genetic marker of the three billion letters in the entire genome, the one that was most predictive. So, yeah, a little bit of luck and a little bit of skill, I would say, in the science.”

Hill had never considered she might run a business. She saw herself as a scientist through and through. But she quickly realised that there was value in the discovery she had made.

“It was very clear. There were two options; either you can license the intellectual property or you go yourself and you do it yourself,” she says. Ultimately, she found the decision easy. She had a clear sense of how her discovery could be commercialised and built upon in the way she wanted. And she didn’t trust anyone else to do it.

She pitched her idea to the UCD incubator, NovaUCD, and was chosen to take part in its start-up programme. Her company, Equinome, was born.

Her first investor was legendary Irish trainer Jim Bolger. Bolger had been one of the first people in the industry to contribute samples to her research project. And he had always said he would come on board if that research led to a commercial opportunity.

With no business background herself, Hill turned to Smurfit Business School for expertise. Donal Ryan was a student looking for a placement as part of his course. She took him on. The placement evolved into a permanent role as managing director until Equinome was acquired by Plusvital, the Denis O'Brien-backed equine nutrition company, in late 2015.

Enlarged business

Like Bolger, Ryan remains a shareholder in the enlarged business.

“Donal was with me every step of the way,” says Hill. “He was young and he had an appetite for it and both of us sort of figured our way around it together. I needed people to complement what I had and to fill the gaps, the things I didn’t have.”

Equinome opened for business in the teeth of a recession in January 2010. The plan had been to focus on the Irish and British thoroughbred markets, but racing was one of the first sectors to feel the chill winds after the financial crisis. With fewer owners, there had been fewer horses bred in the previous couple of years and therefore a smaller market of young racehorses to undergo such a test.

"So, within six months I found myself on a plane to Australia, " Hill recalls. "Australia is an interesting market. Because it's a younger industry, it's not rooted in the traditions that we have here and they were more inclined to try a new disruptive technology."

Strong uptake of her test in Australia led to expansion for the business as Hill, Ryan and the team recognised they had the potential for a global business.

"The thoroughbred industry is a multibillion-euro global industry in any case and horses are moved all over the place," Hill says. "It was very clear early on that our business had the potential to grow quite quickly in an international space where we weren't dependent on what was going on at home. Within the first five years, we had clients in 20 or 30 countries in the major bloodstock regions of the world, which are Europe, North America, Australia, Australasia, South Africa and Japan. "

Being based in UCD was, Hill believes, a major advantage in those early years. “I think internationally people had comfort in sending samples to an academic establishment.”

Hill retains her links with the university where she is now professor of equine science, even as she works as chief scientific officer with Plusvital.

“I continue to wear two hats. People asked me in the early stages ‘Why don’t you leave UCD and focus on the business’ but in fact it’s been beneficial to have a foot in the two full-time jobs. It helps the business to have academic links and contacts, and to be able to utilise resources and the capabilities and know-how that exist in the university. But also the university has benefited, I hope, by being able to show that science that has come out of the university has a real impact.”

The science behind the speed gene test may be complex but, in marketing terms, it was an easy product to sell with a clear benefit. Take the test and you find out what distance your horse is best suited to.

Biblical trust

In an industry rooted in tradition, with almost biblical trust placed in bloodlines, there was some caution, especially closer to home, about whether identifying and sharing genetic information about thoroughbreds could disrupt the status quo.

At the time, most people heard about genetics only in the context of companies such as Monsanto and genetically engineered crops – still a subject of contention between the US and the European Union – which were often referred to as frankenfoods. Things have changed dramatically since. Genetics are mainstream now, with many people undergoing DNA testing either to trace their ancestry or, perhaps more usefully, for health purposes.

“People are generally a lot more comfortable with genetics,” says Hill. “When we first started talking about genes 10 years ago, there was almost an immediate kind of knee-jerk sort of terror.

At a time when sport in general is battling with the ability of modern medicine to skew the level playing field with “doping”, Hill insists that her gene testing is “the furthest away from gene doping that you can possibly get”.

“What we’re doing is assessing the natural variation or the natural genetics of an individual”, not altering it. “The point is then to be able to manage that individual to maximise its genetic potential”, including training regimes, the races that it is entered into and even nutritional management.

While Equinome was originally built around a single gene test, Plusvital has moved on considerably from that and Hill says it now has possibly the largest archive of genetic information of thoroughbreds in Ireland.

“Using new machine learning and data-analytic tools, we can now ask questions of that data that we wouldn’t have been able to do before,” she says. “We have developed tests for performance traits and for behavioural traits.”

Last year, research by Hill and her team discovered what they described as the “motivator gene” and, through Plusvital, developed a test to identify it.

The study of 4,500 horses – some of which had raced and others which had not – found that horses classified as “high” in the PRCP gene are more likely to race and to earn more. As Hill put it: “Some horses are just naturally keener for their job than others.”

But the study also discovered that the prices paid for these horses do not differ markedly from those low in the motivator gene. The potential value for owners is clear.

It’s not just innate speed and motivation that Hill and the Plusvital team are pursuing. They are also working towards understanding genetic contributions to health and disease traits in thoroughbreds. She believes this may yet prove to be the way of the future for the company and the gene testing industry.

Plusvital was signed up last year by the Jockey Club of America to advise on concerns that an ongoing narrowing of the thoroughbred gene pool could jeopardise what is a multibillion-dollar industry.

While Plusvital’s tests are widely used within the industry, many owners and breeders are reluctant to publicly identify with it. An exception was Danny O’Brien, the trainer of Vow and Declare which edged home in last year’s Melbourne Cup, the highlight of the Australian racing calendar.

O’Brien has been a high-profile advocate and ambassador for Plusvital and its gene tests. He is one of six winners in the last 10 runnings of the race to avail of the test, but the only one to acknowledge it publicly.

From a purely commercial perspective, Hill concedes that it’s not ideal for Plusvital that its clients are so keen to fly under the radar but, from a long-term perspective, she says it has been very important that “we gained and maintained the trust of our client base that we wouldn’t reveal any of the names of horses or clients”.

“It’s going to take time for people to really, I suppose, be comfortable, generally comfortable with [gene testing] and figure out how to best use it. But in the meantime, we’ll keep going.”

When Plusvital, the business founded by Denis O’Brien snr – the father of the telecoms tycoon – back in the mid-1970s, came calling in 2015, it was not immediately clear just what value could come from combining an established equine nutrition business with a high-tech genetic testing operation.

To explain, Hill refers back to research done by one of her PhD students in UCD, who discovered that horses with a particular genetic type produced less of a compound required for energy production, meaning they got fatigued more quickly and took longer to recover after exercise.

Supplement

Further research at UCD and Trinity College discovered that, if you could give the horses the compound, called coenzyme Q10, as a supplement, it would actually boost their energy. Working with the research teams, Plusvital developed a feed enriched with the supplement.

“I think that’s a really good example of how we had this vision early on that Equinome and Plusvital could be complementary,” Hill says.

Hill argues that what sets Plusvital aside from others in the genetic testing business is research. “We’ve invested hugely into our R&D programme. And that’s what sets us apart. We do our own R&D; we develop our own products and it means that we have the knowledge base to capitalise on that in the future as well.”

The business of science excites Hill still but so, too, does the rigour of scientific research and the university environment where students keep her grounded and not every investigation has to have a commercial logic.

Choosing between the two would be, she says, Sophie’s Choice – no right outcome. Fortunately, she doesn’t have to. As she says herself, the stars aligned at the right time, “I was in the right place at the right time but, you know, everything had to come together to be able to do that.”

More than just luck.