Platelets, the 2nd most abundant cell in the blood, play an essential role in cardiovascular disease. Inherited bleeding, thrombotic and platelet disorders are characterized by marked genetic heterogeneity. In addition, platelet have been shown to be a good model to study other rare diseases, including neuropathologies. Our lab aims to find novel genes for unexplained platelet disorders with the use of whole genome and RNA sequencing datasets. Candidate genes will be validated by recalling families, using patients' platelets and functional genetics in stem cell-based models.
The project is of interest for PhD students with an interest in human genetics and genomic technologies. It will combine dry and web lab work. Used methods: CRISPR/Cas, stem cell differentiation assays to megakaryocytes and platelets, flow cytometry and sorting, quantitative in vivo imaging, microscopy, RNAseq, platelet functional assays
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