Characterization of IL11-deficiency in humans


Project 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.
Program - BioScience
Division - Biological and Environmental Sciences and Engineering
Field of Study - human genetics

About the

Bruno Reversade

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