By Hattie O’Rourke, January 2023
In the second year of my Psychology BSc I applied for The Genetics Society’s (GenSoc) summer studentship under the guidance of Dr Emma Meaburn (GEL Lab) and Prof Emily Jones (BOND Lab). The scheme allows BSc students an opportunity to gain experience in any area of genetics by doing a research project during the summer holiday prior to the final year of their degree. The grant includes £300/week allowance for up to eight weeks, up to £750 to cover laboratory expenses, as well as a place on a 2-3 day student Summer School Workshop.
I have walked a creative, vocational career path since leaving school over a decade ago; starting in fine art and textiles, moving through television and theatre as an actor, and culminating in fitness where I currently teach ballet and Pilates alongside my full-time Psychology BSc. Fortunately, since each phase of my career has been highly competitive and challenging, and I have had some unconventional success as well as lots of conventional failure, I’m pretty used to rejection. So when I wasn’t successful in my GenSoc application, I was prepared for the outcome.
Undeterred, I approached Emma about pursuing the project on an ad hoc basis, under her supervision. In our discussions for the original GenSoc application, we had hit on an interesting and novel hypothesis, which harnessed some significant findings from a recent paper using data from the British Autism Study of Infant Siblings (BASIS) developmental infant cohort. The authors examined activity and attentional traits measured via a battery of tests in infants with and without a family history of autism or ADHD. They found a longitudinal association between early activity levels and later ADHD symptoms, as well as group differences in activity levels in the sample as a function of family history of neurodevelopmental disorders by 36 months.
Emma then introduced me to the wild and woolly world of disorder heritability and polygenic risk scores (PRS), and more specifically, areas of research that have established that genome-wide PRS for ADHD highly associate with ADHD traits. For example, Demontis et al.’s recent 2019 meta-analysis has estimated that around 7,000 common variants can explain 90% of the single nucleotide polymorphism heritability of ADHD. Our project could capitalise on both the heritability and polygenicity of ADHD, using ADHD PRS and phenotype data from BASIS to test the hypothesis that individual differences in motor activity levels lie on the causal path between genetic liability for ADHD, and later overt ADHD symptoms.
I am specifically investigating whether individual differences in parent, observer and objectively quantified physiological measures of infant activity levels are an early manifestation of polygenic liability for ADHD in infants at typical or elevated likelihoods of neurodevelopmental disorders. Our expectation is that we will find a significant positive association between ADHD PRS and measures of infant activity, (independent of family history at 10 months) as well as significant positive association between ADHD PRS and activity measures at 36 months. We also want to investigate whether ADHD PRS predicts ADHD traits at 36 months and if (any) genetic effects are mediated by infant activity levels at 10 months.
I tell Emma almost every time I meet with her that the ‘Research Methods’ element of my course initially felt particularly intimidating given my distinctly ‘unscientific’ background when I began my degree, but it was her teaching of Introduction to Research Methods that allowed me first to understand, then enjoy, and now pursue it. I’m proud to now be working alongside her on this new line of enquiry.