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How could my supposedly healthy uncle have died unexpectedly at the age of 21? Growing up, I was consumed by the notion that someone could be struck down by Sudden Adult Death (SAD) without displaying any symptoms. The more I read about it, the more I appreciated the complex causes of SAD, but something still didn’t sit right.
After witnessing the footballer Fabrice Muamba’s narrow escape from death in 2012, it became clear that there was a fundamental flaw in the way we approach the screening of both athletes and the general public. Both my uncle and Muamba had the same underlying undiagnosed heart condition – hypertrophic cardiomyopathy (HCM). But as a sixth form student I felt powerless to challenge the paradigm and prevent other families from experiencing the same ordeal mine went through.
Fortunately, I became acquainted with organisations that help young scientists to participate in research, and soon found myself packing my bags and heading to St George’s Hospital, London.
While many school students are assigned a research project when they collaborate with a university host, I knew I wanted to research screening techniques that would lead to better diagnosis of HCM. After a number of months liaising with my host, Professor Sanjay Sharma, I finally managed to come up with a study proposal.
One of the key diagnostic techniques used for HCM is to look for a thickening of the heart muscle. However, many athletes already have a thickened heart muscle, a benign condition known as athletes’ heart, so the usual diagnostic techniques do not work. Instead, physicians have to diagnose the condition by measuring athletes’ peak oxygen consumption levels while they undertake cardio exercise.
By using data from existing cohorts of professional athletes, I found that the average peak oxygen consumption level is different for African-Caribbean athletes and Caucasian athletes – but physicians currently use the same cut-off point to diagnose everyone, acting as if the population were homogenous. So African-Caribbean athletes who may be suffering from HCM could be going undiagnosed.
My solution is to use two separate cut-off values: one for Caucasian athletes, which currently exists, and another for African-Caribbean athletes. However, while my research has the potential to change the way athletes are tested for HCM there is still much work to be done to determine what the new cut-off point should be for African-Caribbean athletes. During my gap year I hope to resume my research at St George’s University Hospital London and establish this.
I jumped at the chance to get involved with the Nuffield Foundation Research Placements, which facilitated my own project, and would like to take this opportunity to emphasise this type of research is not beyond the realm of any budding young scientist.
When I entered my project into the National Science + Engineering Competition, I had no idea I’d even make it to the finals, let alone win a place at London International Youth Science Forum and runner-up as the UK Young Scientist of the Year!
I hope that my project inspires the next generation of scientists and engineers to realise the wealth of opportunities out there to participate in pioneering research.
Henry Roth is an 18-year-old student from Hampshire
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