Rare disease
Molecular data integration for cases that remain undiagnosed after whole-genome sequencing, within the SwissPedHealth cohort.
Mariam Ait Oumelloul — Doctoral assistant · EPFL, Lausanne
Multi-omics integration for infectious and rare disease genomics
Doctoral researcher at EPFL, working within the SwissPedHealth Lighthouse Project to link genetic variation to its downstream functional consequences. My thesis develops integrative, interpretable network frameworks for infectious and rare disease — built for the clinic as much as for discovery.
Three threads
Infectious disease
How host genetics shapes plasma metabolomic profiles in people with HIV, and multi-omic axes of severity in pediatric sepsis.
Network methods
Heterogeneous knowledge graphs and random-walk-with-restart for patient-specific gene prioritisation.
A short introduction
My work sits at the interface of genomics and complementary molecular layers — transcriptomics, proteomics and metabolomics — and asks how their combination can sharpen our understanding of human disease.
In rare disease, where a large share of patients remain without a molecular diagnosis even after whole-genome sequencing, late-integration strategies fall short. My thesis develops network-based alternatives that hold clinical phenotypes, genomic candidates and functional signals in one interpretable frame.