Congratulations to Alix SIMON on the successful acceptance of her PhD thesis!
Her work, supervised by Jocelyn Laporte (IGBMC) and Julie Thompson (ICUBE), is entitled:
“Multiscale characterization of rare genetic diseases through multi-omics integration and bioinformatics.”
Summary of her Research :
Centronuclear myopathies (CNM) are rare genetic disorders characterized by generalized muscle weakness and caused by mutations in the MTM1, BIN1, and DNM2 genes. The mechanisms linking these causative mutations to the phenotypes observed in CNM patients are only partially understood, and no curative treatments are currently available.
To investigate the pathological mechanisms involved in CNM, I performed a multiscale characterization of these diseases by combining experimental omics data, phenotypic data, and public knowledge bases. Specifically, I carried out transcriptomic analyses across multiple tissues, single-nucleus transcriptomics, and multi-omics integration using heterogeneous multiplex networks.
This work has revealed key molecular pathways and biological processes involved in CNM pathogenesis and has suggested potential therapeutic targets.
Link to a key publication:
https://doi.org/10.1007/s00018-024-05512-9
Skills Acquired at IGBMC:
- Designing and independently conducting a scientific research project
- Technical skills in omics data analysis and integration, as well as good practices in data management
- Human and interpersonal skills, including interdisciplinary collaboration, student supervision, and effective communication of research through scientific writing and oral presentations
Life at IGBMC:
An excellent scientific environment supported by numerous technology platforms and a vibrant research community. The SPB (Students and Postdocs Board) played a key role in fostering connections and exchanges across diverse backgrounds through scientific and social events.
Collaborations:
Co-supervision in collaboration with the CSTB team at ICUBE.
Funding and Partners:
- PhD fellowship from the Inserm-Pfizer Innovation France Doctoral Program
- Research also supported by the French Society of Myology through the 2021 Master’s Award
Future Projects:
Alix is currently seeking exciting research opportunities in integrative bioinformatics, either in academia or in the private sector.