Stéphanie Tomé
Research scientist
Titles and positions
- Research scientist (INSERM)
- Accreditation to supervise Research (HDR)- University of Paris (Descartes)
- PhD, Genetics – University of Paris (Denis Diderot)
Expertises
- Unstable DNA repeat sequences
- Mechanisms of trinucleotide repeat instability
- Trinucleotide repeat disorders
- Myotonic dystrophy
- Molecular and cell biology
- Long read sequencing
- Cell and mouse models
Presentation
I have been working on the mechanisms of CTG.CAG repeat expansion in myotonic dystrophy (DM1) and Huntington diseases using different models. In the team co-headed by G. Gourdon and D. Furling, we try to understand the mechanisms of CTG.CAG repeat contractions observed in atypical DM1 patients and DNA repair deficient cells.