I am an assistant professor in congenital myopathies at the Department of Physiology at Amsterdam UMC. At a national level, I am member of MYOS, the neuroMuscular YOung Scientists (MYOS) program of theDutch Center for Neuromuscular Diseases (Spierziekten Centrum Nederland) and at an international level I am board member of the European Society for Muscle Research (ESMR). My research group focuses on congenital myopathies, and more specific on the impact of sarcomeric variants on muscle function and muscle energetics.

Research Line: Optimizing muscle function and energetics in congenital myopathies:

Summary:  We are interested in striated muscle performance in health and disease and in how to restore muscle function in those that experience muscle weakness. More specifically, my research focusses on how variants in genes encoding the sarcomere – the smallest contractile unit in striated muscle – affect muscle function and energetics. We evaluate compounds that target either the sarcomere or muscle metabolism to improve muscle function and energetics.

This work is supported by NWO-VENI, ZonMW-Open, Prinses Beatrix Spierfonds.

Our main techniques include: intact muscle mechanics, permeabilized muscle fiber mechanics, enzymatic assays, histology.

Research Center: Amsterdam UMC, Physiology

Diseases: Nemaline myopathy, core myopathy, congenital fiber type disproportion, cardiomyopathy

Experts involved: Rianne Baelde (PhD-student), Alexandra Dorn (PhD-student), Leander Vonk (PhD-student), Marta Hanzcar (PhD-student)

Techniques/keywords: nemaline myopathy, core myopathy, muscle contractility, sarcomere, mitochondrial function, small molecules, biologicals, drug repurposing