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.
Program -
BioScience
Division -
Biological and Environmental Sciences and Engineering
Field of Study -
human genetics
About the
Researcher
Bruno Reversade
Professor Bioscience
Prof. Bruno REVERSADE is a human geneticist. By identifying mutations responsible for monogenic traits (that may be deleterious or beneficial), his teams have pioneered a paradigm shift in the field of Mendelian genetics. By pinpointing the subverted biological pathways which not only underlie the etiology of unique inherited conditions, Bruno's work has revealed biological nodes whose perturbation contributes to common maladies.
This concept of "rare begets common" highlights how the study of humans with extreme phenotypes can foster innovation in therapies for common unmet medical needs. This "bedside to bench and back" paradigm has been realized for a wide array of conditions affecting metabolism, immunity, birth defects, infectious diseases or oncology indications. Bruno's work is characterized by its unusual breadth and depth whose foundations rely on mechanism-based investigations. The team employs patient-derived organoids, animal models and biochemical/structural assays to derive meaningful insights into the origin of each condition studied. Several of these discoveries have been licensed or are being developed for diagnostics and therapeutics purposes.
Prof. Bruno REVERSADE was the inaugural A*STAR Investigator (Singapore), a fellow of the Branco Weiss Foundation (Switzerland), the first EMBO YIP established outside Europe, a senior Investigator of the National Research Foundation (Singapore), the inaugural AAA fellow and Professor at the University of Amsterdam (Netherlands), a distinguished visiting Professor at Koç University (Türkiye) and adjunct Professor at NUS (Singapore).
This concept of "rare begets common" highlights how the study of humans with extreme phenotypes can foster innovation in therapies for common unmet medical needs. This "bedside to bench and back" paradigm has been realized for a wide array of conditions affecting metabolism, immunity, birth defects, infectious diseases or oncology indications. Bruno's work is characterized by its unusual breadth and depth whose foundations rely on mechanism-based investigations. The team employs patient-derived organoids, animal models and biochemical/structural assays to derive meaningful insights into the origin of each condition studied. Several of these discoveries have been licensed or are being developed for diagnostics and therapeutics purposes.
Prof. Bruno REVERSADE was the inaugural A*STAR Investigator (Singapore), a fellow of the Branco Weiss Foundation (Switzerland), the first EMBO YIP established outside Europe, a senior Investigator of the National Research Foundation (Singapore), the inaugural AAA fellow and Professor at the University of Amsterdam (Netherlands), a distinguished visiting Professor at Koç University (Türkiye) and adjunct Professor at NUS (Singapore).
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
RECOMMENDED STUDENT ACADEMIC & RESEARCH BACKGROUND
Experience in molecular lab
Knowledge of cell culture
Desire to learn
