A novel regulatory pathway affecting red cell and platelet phenotype
A novel mutation has been identified in an Australian family with a combined defect in platelet and red cell function. This project will explore the molecular mechanism of this defect, with a focus on a new pathway regulating the cytoskeleton and platelet granule release.
Platelets are circulating cell-derived bodies which repair blood vessel damage and prevent blood loss. Inherited defects in platelet function cause serious and potentially life-threatening bleeding and there is a growing research focus on understanding these diseases. Our group has recently identified the genetic cause of an inherited defect in a large Australian family which affects both platelet and red cell function - this involves a key regulatory molecule which has not been linked to platelet function previously. The student will join our team investigating this exciting new pathway, using established cell lines and clinical samples from the family. S/he will learn a variety of platelet function assays, and combine these with biochemical and cell biology methods to discover the links between this new mutation and platelet function. Transgenic mice expressing the mutant factor will also be available for correlative in vivo studies early in 2012. This project will involved the student in a new and rapidly evolving field of coagulation research, that bridges clinical medicine and basic research.
Techniques for this project include:
- Molecular biology, screening for genetic mutations and preparing gene vectors for cell transfection
- Proteomic analysis of platelet and red cell lysates
- Biochemical methods including immunoprecipitation and Western blotting to identify molecular partners of the target protein
- Cell imaging by flow cytometry and confocal microscopy
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The opportunity ID for this research opportunity is: 1393
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