In this series, we highlight four researchers who conducted a work visit to an international institute with the support of the ACS Work Visit Grant. Today, we feature Marion van Vugt, Postdoctoral Researcher at Amsterdam UMC, who visited University College London (UCL) to investigate the role of rare and intermediate-effect genetic variants in hypertrophic cardiomyopathy.
Genetic variants and hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes abnormally thick, which can lead to heart failure and sudden cardiac death. During her work visit at UCL, Marion focused on genetic variants that are either rare or of intermediate frequency and effect (IEVs). Using a deeply phenotyped HCM cohort available to the group at UCL, she explored whether patients carrying rare genetic variants, IEVs, or a combination of both, differed from patients without such variants. As Marion explains: "We hypothesize that carriers of IEVs have an intermediate phenotype, more severe than that of non-carriers, yet milder than that of carriers of rare variants." While some differences were already observed in age-related disease penetrance and disease severity, combining the UCL cohort with data from Amsterdam UMC is expected to confirm this hypothesis and allow the study to be finalized.
We hypothesize that carriers of IEVs have an intermediate phenotype, more severe than that of non-carriers, yet milder than that of carriers of rare variants.
A fruitful visit
The visit was valuable on multiple levels. Marion had already collaborated extensively with another research group at UCL, and this visit strengthened those relationships by meeting face to face and joining group meetings and outings. She was also able to attend two conferences held in London during her stay: the UK Biobank conference and the Festival of Genomics and Biodata. Furthermore, the visit opened up new opportunities for collaboration. The expertise of the UCL groups and that of Amsterdam UMC proves highly complementary, which is what allows the two cohorts to be brought together in this project and creates a solid basis for joint research beyond it. Looking back on her visit, Marion says: "Being able to meet colleagues in person and join their group activities made a real difference. It strengthened existing collaborations and opened up new ones — something that is difficult to achieve from a distance."
ACS Work Visit Grant
The grant allows PhD students and postdoctoral researchers to receive training in new techniques (both preclinical and clinical) or to initiate collaboration with a research institute abroad. For more information, see the ACS Work Visit Grant page.