Stéphanie Tomé
Research scientist
Titres
- 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
Présentation
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.
Principales publications
- Tomé, S, Gourdon, G. DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. Int J Mol Sci. 2020;21 (2):. doi: 10.3390/ijms21020457. PubMed PMID:31936870 PubMed Central PMC7014087.
- Tomé, S, Gourdon, G. Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions. Methods Mol Biol. 2020;2056 :11-23. doi: 10.1007/978-1-4939-9784-8_2. PubMed PMID:31586339 .
- Lo Scrudato, M, Poulard, K, Sourd, C, Tomé, S, Klein, AF, Corre, G et al.. Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice. Mol Ther. 2019;27 (8):1372-1388. doi: 10.1016/j.ymthe.2019.05.021. PubMed PMID:31253581 PubMed Central PMC6697452.
- Tomé, S, Dandelot, E, Dogan, C, Bertrand, A, Geneviève, D, Péréon, Y et al.. Unusual association of a unique CAG interruption in 5' of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism. Hum Mutat. 2018;39 (7):970-982. doi: 10.1002/humu.23531. PubMed PMID:29664219 .
- Barbé, L, Lanni, S, López-Castel, A, Franck, S, Spits, C, Keymolen, K et al.. CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. Am J Hum Genet. 2017;100 (3):488-505. doi: 10.1016/j.ajhg.2017.01.033. PubMed PMID:28257691 PubMed Central PMC5339342.