Meet one of our 2025 Pilot Grant Recipients, Stéphanie Tomé, PhD! Dr. Stéphanie Tomé, a researcher at the Myology Institute in Paris, has over 15 years of experience. Her research has focused on trinucleotide repeat instability in various neurological and neuromuscular disorders, including Huntington’s disease and myotonic dystrophies. Her current work centers on DM1 and the mechanisms underlying CTG repeat instability. More recently, she has expanded her expertise to DM2.

Within her team, Dr. Tomé has played a key role in developing and implementing long-read sequencing (LRS) methods specifically tailored for analyzing repetitive sequences. Her work has involved close collaborations with leading sequencing companies, including Pacific Biosciences and Oxford Nanopore, as well as the platforms at the Curie Institute. These efforts have established her as a specialist in LRS for the study of repeat expansion and repeat instability. In 2024, she organized the 2nd Long-Read Sequencing of Expanded Tandem Repeats Workshop, held in Paris, bringing together experts from Europe and North America to exchange knowledge and review the latest advances in repeat-associated disease research. 

Dr. Tomé is an active member of an international research group studying disorders associated with unstable tandem repeats, further demonstrating her long-term commitment to advancing the field. Her ultimate goal is to improve healthcare for DM patients and contribute to the development of innovative therapeutic strategies through collaborative, multidisciplinary research efforts.

Click here to learn more about MDF's research funding opportunities and prior grant recipients.