Whole genome and RNA sequencing for platelet disorders

This project aims to deliver a rapid stem cell-based model to study known (but functionally undefined) and novel genes using CRISPR/Cas technology, quantitative in vivo imaging and genetic studies. Novel genes will be obtained from WGS data obtained for undiagnosed patients with very well-known platelet disorders, supplemented with platelet transcriptomes. This will allow WGS data analysis of differentially expressed genes. Validated novel candidate genes will be used to expand our existing diagnostic multi-gene panel test to increase detection of patients with the same IPD. This project will provide novel insights in platelet biology that is of use for therapeutic discoveries.