Meet the Early Career Grant Recipient: Dr. Johanna Hamel

Published on Fri, 03/29/2024

Dr. Johanna Hamel, an Assistant Professor in Neurology, Pathology, and Laboratory Medicine, developed her interest in DM1 and DM2 during medical school in Germany. Her residency at the University of Rochester, chosen for its focus on neuromuscular medicine and DM, led to a fellowship under Dr. Charles Thornton, funded by the Clinical Research Training Fellowship Award in Muscular Dystrophy.

Her project on DM2's natural history revealed measurable progression, and transcriptomic changes resembled DM1 but milder, suggesting splicing biomarkers for DM1 could apply to DM2. As a co-investigator, she contributed to the Wellstone Muscular Dystrophy Specialized Research Center's 2018 renewal. Dr. Hamel led the DM section of the National Registry of Myotonic Dystrophy after Dr. Richard Moxley's retirement. Securing a Schmitt Program grant in 2019, she studied CSF biomarkers in DM1 and DM2. Clinically, she cares for DM patients weekly.

Her experiences underscored challenges in research participation, inspiring her to pioneer an innovative approach—building patient registries and conducting video-assessed studies. Remote visits, even pre-pandemic, proved feasible, with over 100 conducted, emphasizing potential engagement.

MDF support enabled a pilot study and toolkit acquisition, leading to the program's growth. Since the pilot study, Dr. Hamel assembled a remote research team, developed SOPs, cleaned protocols, and launched REACH DM, expanding data collection. She sees this method as valuable for studying genetic modifiers and the real-world impact of new drugs.

Click here to learn more about previous MDF Grant Recipients.