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Project

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.

Date:3 Nov 2021 →  Today
Keywords:Platelet disorders, platelets, CRISPR/cas, WGS, Transcriptomics, quantitative in-vivo imaging, genetic studies, bio-informatics
Disciplines:Medical biotechnology diagnostics , DNA analysis technology, Medical molecular engineering of nucleic acids and proteins, Gene and molecular therapy
Project type:PhD project