During my PhD research (2006 – 2011), I investigated the neuromuscular features in inherited connective tissue disorders, Ehlers-Danlos syndrome (EDS) and Marfan syndrome. This included clinical and experimental studies in patients and mice. This project has enabled me to acquire a wide range of research skills on clinical and physiological research. I participated in the 2016 Ehlers-Danlos Society International Symposium and contributed to the revised diagnostic criteria of Ehlers-Danlos syndrome and a review on neurological maniefestations of Ehlers-Danlos syndrome.
Since finishing my PhD, my research has focused clinical features and pathophysiological mechanisms of congenital myopathies and facioscapulohumeral muscular dystrophy (FSHD). Although muscle weakness is a hallmark of both groups of myopathies, the underlying molecular mechanisms remain largely unknown. Based on recent genetic findings, our team studies the the excitation-contraction coupling and of contractibility of the sarcomeres. Furthermore, epidemiology, natural course, and outcome measures are being investigated to prepare the Dutch cohorts for trial-readiness. As such , I participate in our research team on FSHD (supervising 4 PhD students) and in the international network on FSHD research. Furthermore, I collaborate with various foreign groups on natural course and trial-readiness in congenital myopathies. Working in an international team is a prerequisite to progress in research on these rare myopathies.