A PhD position is available in the group of Prof. Kathleen Freson at the Center for Molecular and Vascular Biology at KU Leuven for a project on Improved disease modelling and genetics of inherited platelet disorders. The lab is located on the Gasthuisberg campus of KULeuven in Leuven, Belgium, a rich biomedical research environment neighboring the University Hospital UZLeuven.
- Inherited platelet disorders (IPD) are highly heterogeneous with genetic defects in 63 genes and characterized by a high susceptibility to bleeding and often associated with syndromic features. Many genes have been discovered by whole exome/genome sequencing (WES/WGS) but their exact role in platelet formation and function remains unknown due to the lack of animal or efficient cell-based models. Today, high throughput-sequencing multi-gene panel tests comprising these genes can diagnose 48 to 26% of patients with platelet formation and function disorders, respectively.Many patients still remain undiagnosed and even with WGS data available, it remains extremely difficult to pinpoint the causative genetic defect because of the hundreds of rare coding variants present. This project therefore 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.
- Used methods: CRISPR/Cas, stem cell differentiation assays to megakaryocytes and platelets, flow cytometry and sorting, quantitative in vivo imaging (using Biotek Cytation5 in vivo imaging multimode reader)
The candidate should have a master in the field of (bio)medical sciences or equivalent.
● Sufficient knowledge about human genetics
● Expertise in microcopy and flow cytometry (from Masterthesis) is an added value.
● The candidate has excellent communication skills in written and spoken English.
● He/she is highly motivated to work in a multidisciplinary research team, as well as independently, has an open communication style and has a problem-solving attitude.
● The candidate is expected to apply for a PhD grant at the beginning of the PhD period, for example though the Flemish research funds (Fonds Wetenschappelijk Onderzoek).
●A full-time (100%) doctoral fellowship for one year (which will be extended after positive evaluation).
●Enrollment in the Doctoral School of Biomedical Sciences at KU Leuven
● Access to state-of-the-art technologies and a rich training environment
Please submit a motivation letter along with your CV and "at least 1 recommendation letter".
Solliciteren voor deze vacature kan tot en met 03/05/2021 via onze online sollicitatietoepassing
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