Henry Sutanto (photo1), who completed the MSc in Cardiovascular Science course in 2016, and Charlotte Hall (photo2), who is in the final year of a PhD project at the Centre for Heart Muscle Disease at ICS, worked together towards their first manuscript, which was recently published in the European Journal of Human Genetics (https://www.nature.com/articles/s41431-018-0169-4).
In their study, supervised by Drs Marta Futema and Petros Syrris, they took the largest available DNA sequencing data set called gnomAD (http://gnomad.broadinstitute.org) and analysed frequencies of previously published genetic variants thought to be associated with the pathogenesis of a rare form of cardiomyopathy. They then applied bioinformatic analysis to further examine the potential effect of identified variants. Their novel approach, which compares variant frequencies between different ethnic populations has added another important level in the disease variant interpretation. In addition, they observed higher than expected frequency of the disease genotype in the gnomAD data set suggesting that some “mutations” are not truly pathogenic, may have reduced penetrance, and/or that the disease has a polygenic aetiology.
Henry successfully performed this work as a research project during his MSc studies and, as a result, shared the prize for the best MSc dissertation in his year. He has since presented this work as a poster at the International Society of Cardiomyopathies and Heart Failure Congress in Kyoto, Japan, in December 2016 (poster photo3). After achieving a Distinction in his MSc in Cardiovascular Science at UCL he was offered a PhD studentship at the Department of Cardiology, Maastricht University.