Matthew Hurles is Head of Human Genetics at the Wellcome Sanger Institute, Hinxton, Cambridge, UK. He will be giving the ESHG Award Lecture on Tuesday June 19 at 14.15 hrs. He talked to Mary Rice about his life and work.
When Matthew Hurles isn’t in his lab trying to identify rare genetic diseases, he may sometimes be found cycling up a mountain. He’s clearly someone who likes a challenge.
His interest in science started in his mid-teenage years. The books of Stephen Jay Gould sparked an interest in evolution and started him thinking about the role of science in deciphering it. Encouraged by his mother, a biochemistry teacher, he studied biochemistry at Oxford. “The course was general and the genetics component very slight, but for me that was the most interesting part. So for longer projects, both as a undergraduate and for my PHD, I sought out things that were in that evolutionary space.”
His interest in the genetics of evolution led naturally to his current work in the understanding of human genetic variation, its clinical impact, and how the understanding of the genetic causes of rare disorders and their biological mechanisms can provide insights into human development.
For the last seven years he has led the UK’s Deciphering Developmental Disorders Project, which aims to use the latest genomic technologies to diagnose chidren where a genetic disorder is suspected, but where the tests available to the National Health Service have not so far been able to arrive at a diagnosis. “Over the last seven years we’ve been able to work with about 13,000 families and provide to the clinical teams that care for them what we think are likely diagnoses that they can work up and confirm”, he says.
This work is clearly rewarding, but Hurles has a few qualms too. “I would have liked to see our work enter routine clinical service more quickly than it has, but when you are engaging with an entire healthcare system it seems that delays are inevitable. And the Genomics England programme is now taking up the baton of transforming the system through the better use of genomic data. However, the work that we’re doing has made me more aware of the ways in which, as a society, the support that we give families who look after disabled children is woefully short of what they should receive. I find that kind of societal unfairness to be deeply frustrating.”
“But on the other side of the coin, I’m very happy to have been able to find a place within science, which is something that fascinates me at an intellectual level, where there is also a real demonstrable benefit to people – especially to vulnerable people in our community, people with rare genetic disorders. It’s a real privilege to be able to follow your own interests and do things that you’re curious about but that also have outputs that are extremely meaningful for people on a personal level.”
If he hadn’t been become a scientist, there was a time when Hurles would have liiked to play cricket professionally. “But I realise now that it probably wouldn’t have been a wise choice, even had I been good enough.” Now he likes the idea of designing gardens even though, he says : “It sound very middle-aged !” As this suggests, retirement is a long way off, and he will decide what he wants to do at a later stage. “There are two types of retirement amongst scientists. Some retire and continue essentially as before, and some you never see again. I don’t yet know which category I will fit into.”
Gardening and cycling remains big interests, so he will have plenty to do if he decides to quit science for good in twenty years or so. “Every few years friends and I go to the Alps and cycle up some of the classic climbs from the Tour de France. It’s very beautiful and quite different from the landscape around Cambridge ! And every gardener will tell you that if they spent more time in the garden it would look better than it does currently.”
Hurles will be telling the conference about what he and colleagues have learned during their time with the Deciphering Developmental Disorders Project. “We’ve acquired a lot of new knowledge about the genetic architecture of these children, who have disorders that are essentially genetic and that cause their severe developmental problems. We’ve been able to generate different types of genetic data and interrogate it and thereby identify the relative contributions of dfferent classes of variations, as well as defining many new genetic disorders that can now be diagnosed around the world. This has required bringing together a clinical engagement with the latest technologies and the computational approaches required to marry all the data together. It’s something that we are proud of, and I am personally happy to have been able to use the science that I find so fascinating in a way that can assist people who are really in need of help.”