Characterization of IL11-deficiency in humans
ApplyProject Description
The student will investigate patients with germline homozygous variants in the cyokine IL11.
He/she will make use of patient-derived fibroblasts and serum to confirm the pathogenicity of identified mutations and examine its downstream effects on cellular activity.
Additionally, an animal model may be envisaged in collaboration with European group and new clinical assays may required to better define syndrome.
This falls under the Smart Health Initiative towards the understanding of monogenic diseases.
This may become a part of a PhD project.



About the
Researcher
Bruno Reversade

Desired Project Deliverables
literature review and knowledge of IL11 pathway
cell culture with patient and established cell lines
signalling assays including Elisa, western blots, QPCR, immnuoflorescence, metabolomics
biomarker analysis in serum and supernatants
animal modeling
clinical analysis and comparison
clear communication at lab meetings and project report