Our Biology of JME (BIOJUME) study has been featured in Epilepsy Professional Magazine’s Summer 2017 issue.
The article highlights the importance of this multicentre genetic study of adolescent juvenile myoclonic epilepsy. In collaboration with sites across Europe and North America and an aim of recruiting over 1,000 participants, our team is working to ascertain the causes and mechanisms of JME.
We will be looking at individual differences in the phenotype of our participants to understand the subsequent genetic factors of JME. What sets our study apart from others is our focus on a large collection of clinical data. Using the unique methods of statistical genetics analysis from Prof Lisa Strug at Sick Kids Toronto and the computational neuroscience of Prof Mark Richardson at King’s College London, BIOJUME aims to uncover distinct differences between patients for gene-finding.
Another fascinating phenomenon, detailed by Dieter Janz in 1957, is the theory that JME patients exhibit ‘irresponsible or frontal lobe’ type personalities. This idea was explored further by Norwegian neurologist and researcher Dr Marte Syversten who, working with Dr Anna Smith at King’s College London, found that JME patients scored high on a scale of impulsivity. If these results are found to be robust when compared to matched controls, they could indicate a behavioural endophenotype that we could research for genetic determinants in JME.
The challenge of maintaining data quality is addressed by research manager Robert McDowall, who uses an open access web-based database called REDCap to allow researchers to easily input information and screen all the phenotype data for eligibility.
BIOJUME aims to address personalisation from the moment of phenotyping. Moreover, the answers obtained from this research could have significant implications for the personalisation of treatment in the future.
You can access the article here or visit epilepsyaction.org for more information
If you’re a researcher or clinician interested in being involved in this study, please contact us
