2 PhD positions September 2025 Type: Doctorat

Two PhD positions year are available from September 2025, in the laboratory Repeat Expansions and Myotonic Dystrophy, at the Myology Research Centre / Institute of Myology in Paris, France. The project is funded by a MSCA Doctoral network, coordinated by Mario Gomes-Pereira.

PROJECT 1: Development of circulating muscle-specific biomarkers of myotonic dystrophy. This project aims to identify circulating biomarkers of DM1 muscle disease severity and treatment response by analysing extracellular vesicles in blood. Using DM1 cell models (human and mouse-derived) and isogenic controls, transcriptomic and proteomic analyses will be conducted to detect muscle-specific biomarkers. These will be validated in patient blood samples and assessed for responsiveness to various gene therapeuticapproaches.

Supervisors: Genevieve Gourdon (genevieve.gourdon@inserm.fr); Denis Furling (denis.furling@sorbonne-universite.fr)

PROJECT 2: Circulating biomarkers of brain dysfunction in myotonic dystrophy type 1
This project aims to identify brain-specific biomarkers to monitor disease progression and therapeutic response in DM1. The study will focus on the analysis of the secreted proteome, transcriptome and metabolome of neurons and astrocytes to reveal disrupted neuroglial interations and uncover candidate biomarkers of brain disease.
Finally, we will evaluate how the neuronal and glial secretome responds to therapeutic interventions, ASOs and RNA-binding protein decoys, to support the development of future clinical monitoring tools.

Supervisor: MarioGomes-Pereira (mario.pereira@inserm.fr)