2024
Master’s Projects
@Medicine
#bio-informatics
#epigenetics
#DNA methylation
#patient diagnosis
Project Summary
Rare diseases (RD) affect over 300 million people globally, with many still lacking a confirmed diagnosis. The project aims to enhance the diagnosis of RDs by focusing on DNA methylation analysis. This study will use EPIC array technology (Illumina) to identify epigenetic signatures in patients with growth disorders (overgrowth and dwarfism). In collaboration with experts from Université Libre de Bruxelles and CHU de Rouen, the team will improve data processing and classification methods, leading to the identification of differentially methylated regions for each disease by creating reusable tools. The expected outcomes include robust epigenetic biomarkers and improved diagnostic precision in rare diseases.
Maud De Dieuleveult
maud.de-dieuleveult@inserm.fr
- Chargé de Recherche at Inserm
Guillaume Velasco
Matthieu Defrance
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