Amsterdam University Medical Center
Amsterdam, Netherlands
Dear members, I am a muscle physiologist at the Department of Physiology at Amsterdam Unversity Medical Centers in the Netherlands. I attended my first WMS meeting in 2013 in Asilomar, California, and since then have been a huge fan of the society and the annual meetings. The meetings provide a unique opportunity for basic scientists – such as myself - and clinicians to connect, share information, and start collaborative and translational research. I know from experience how valuable these interactions can be: many of my international projects originated during discussions at WMS meetings and resulted in research papers in which clinical data was combined with data from basic muscle research.
I am a member of the scientific advisory board of the Princess Beatrix Muscle Foundation in the Netherlands and a board member of the Dutch Muscle Disease Center (Spierziekten Centrum Nederland), a platform for clinical and basic muscle scientists in the Dutch academic medical centers. I am eager to extend these experiences to the WMS and play a role in further connecting basic scientists and clinicians worldwide. In particular, I am keen on connecting to talented muscle researchers to ensure that they are preserved for our community. Thus as a member of your board, I intend to focus my efforts on extending the training and funding opportunities for young, talented basic and clinical scientists.
My background is in basic muscle structure and function. I received my PhD from the department of Pulmonary Diseases at Radboud UMC (Netherlands), where I studied diaphragm muscle dysfunction in patients with chronic lung disease. Subsequently, I did a postdoctoral fellowship at the University of Arizona (Tucson, US). Here I is was introduced to the world of sarcomeres and their giant building blocks, such as titin and nebulin. I worked with the first nebulin KO mouse model, which resembles nemaline myopathy, and with muscle biopsies of patients with variants in nebulin. My work was funded by career development grants from the Dutch Research Organisation (VENI for postdoctoral researchers; VIDI for early career researchers; VICI for established researchers). Currently, I am a full professor at Amsterdam UMC in the Netherlands. Sarcomere structure and function remain at the heart of my lab’s research. We study the contractile function of sarcomeres in muscle fibers isolated from biopsies of patients with variants in genes encoding sarcomere proteins. Next, we establish causality using genetically engineered animal models. For this work, we closely collaborate with colleagues from Europe, North-America, Asia, and Australia. My lab has coordinated several European and transatlantic consortia investigating the pathophysiology of, and treatment options for, congenital myopathies.
Research benchmark: I authored >120 peer-reviewed publications (of which 78 as first/last author; H-index: 44; ~5500 citations (google scholar).
