Should be good!
PI Seminar Series
Speaker: Professor Sophie Hambleton
Venue: Baddiley Clark Seminar Room
Date: Monday 27th February 2017
Professor Sophie Hambleton will present:
'The troubled immune system - molecular origins of early onset immune dysregulation"
The molecular dissection of monogenic primary immunodeficiency disorders (PIDs) offers a powerful means to discover genes and pathways that are important for human immunity. PIDs are inborn errors of the immune system that typically present in young children with susceptibility to infection, but may also manifest as early onset immune dysregulation (autoimmunity, autoinflammation, lymphoproliferation). The elucidation of causal alleles in such patients can produce paradigm shifts in understanding, as exemplified by the link between FOXP3 mutation, a devastating syndrome of autoimmune enteropathy and endocrinopathy in male infants, and the lack of regulatory T cells. By linking genotype to phenotype in a human host in the natural environment, such research provides a critical adjunct to animal models. Furthermore, Mendelian disorders can help to elucidate the molecular mechanism of putative causal variants discovered through genome-wide association studies in common diseases.
The identification of novel disease genes is of demonstrable benefit to patient care, opening up the important possibilities of early diagnosis, pre-emptive therapy and genetic counseling. It can lead to improved understanding of the natural history of individual disorders, and an obvious opportunity for "precision medicine". Yet in paediatric immunology practice, we see a constant stream of children with severe PID phenotypes that currently lack a molecular explanation. In this talk I will show how my research group addresses this significant unmet clinical need, and harnesses the potential these disorders represent for scientific discovery.
Chair: Professor Andy Mellor