Rianne Baelde

• Role: PhD Candidate

My PhD studies focus on unraveling the pathomechanism in Nemaline Myopathy type 6 (NEM6), a rare inherited muscle disorder. A typical hallmark of NEM6 is mitochondrial dysfunction, though its exact role in disease progression is not yet fully understood. We aim to identify potential therapeutic targets to mitigate disease progression and improve mitochondrial function. Alongside this, I focus on the cardiac involvement in NEM6, aiming to understand how cardiac function is affected by NEM6. Through this work we aim to provide a deeper understanding of NEM6 pathology and contribute to the development of therapeutic strategies. My supervisors are Josine de Winter and Coen Ottenheijm (Amsterdam UMC, department of Physiology).