Alexandra Dorn

• Role: PhD Candidate

My PhD studies focus on finding a treatment for nemaline myopathy type 6 (NEM6). NEM6 is a non-dystrophic congenital myopathy caused by variants in KBTBD13. NEM6 patients often experience muscle stiffness, muscle slowness and muscle fatigue. Currently, no treatment is available. Recently, a slow-skeletal myosin inhibitor has been approved by the FDA and EMA for the treatment of cardiomyopathy. This small molecule restores hypercontractility and preserves muscle energetics. We aim to study the promising strategy of both slow-twitch and fast-twitch myosin inhibition to counteract the muscle stiffness and reduce muscle fatigue in NEM6 patients. My supervisors are Josine de Winter (AmsterdamUMC, Physiology) and Coen Ottenheijm (AmsterdamUMC, Physiology).