August Lundholm

August Lundholm is a PhD candidate at Karolinska Institutet, where he is part of the Clinical Chemistry and Blood Coagulation research group led by Jovan Antovic. His research focuses on hereditary erythrocyte membrane disorders, aiming to enhance diagnostics and understand the genetic underpinnings of these conditions. In addition to his doctoral studies, August has professional experience as a Clinical Biochemist and Research Engineer at Karolinska University Hospital. He holds a Master's degree in Molecular Biology from Uppsala University. August's work integrates clinical practice with research, contributing to advancements in hematology and patient care

I am a researcher specializing in hereditary erythrocyte membrane disorders, with a particular focus on the epidemiology and genetic underpinnings of these conditions within the Swedish population. My work involves identifying and characterizing genetic variants associated with diseases such as hereditary xerocytosis and stomatocytosis, aiming to elucidate their prevalence and phenotypic manifestations. A significant aspect of my research centers on mutations in the PIEZO1 gene, which encodes a mechanosensitive ion channel crucial for red blood cell volume regulation. Gain-of-function mutations in PIEZO1 have been linked to hereditary xerocytosis, leading to erythrocyte dehydration and hemolytic anemia . By integrating epidemiological data with advanced genetic analyses, I strive to enhance diagnostic accuracy and develop targeted therapeutic strategies for individuals affected by these