PhD candidate 'Quest for genetic causes of bleeding tendency'

• Analysis of genetic data.
• Functional analysis of identified proteins.
• Conducting systematic searches in literature databases.
• Validation of laboratory tests.
• Writing scientific publications for international journals.
• Presenting results at (scientific) meetings.
• Collaborating with promoters, supervisors and internal and external partners.

All these tasks are aimed at obtaining an academic PhD. In addition, PhD students contribute to general activities taking place within the laboratory of hematology and within the research institute.

Within the Thrombosis and Hemostasis research group of the Laboratory of Hematology, we investigate the mechanisms that maintain the delicate balance of the hemostatic system. Disruption of this balance may result in either bleeding or thrombosis, both of which represent major causes of morbidity and mortality worldwide. Bleeding following trauma remains one of the leading causes of death in individuals under the age of 46 years, while thrombotic diseases are among the most common causes of mortality globally, with incidence increasing with age.

Identifying the cause of a bleeding tendency remains a major challenge in clinical hematology. Despite extensive laboratory and genetic investigations, no underlying hemostatic defect can currently be identified in approximately 50% of these patients. This may be further improved by evaluating clot degradation (fibrinolysis). However, assays assessing fibrinolytic capacity are poorly standardized and are not routinely available in clinical practice.

In this PhD project, you will contribute to advancing our understanding of unexplained bleeding disorders through a combination of genomic analysis, functional characterisation and translational research approaches. The project aims to identify and characterize novel genetic variants and biological mechanisms underlying bleeding phenotypes by integrating whole-genome sequencing with functional studies in individual patients and affected families.

In parallel, the project focuses on improving diagnostic strategies for fibrinolytic disorders by characterizing current diagnostic modalities and by developing, optimizing, and validating novel assays that assess fibrinolytic potential. Together, these approaches will provide novel insights into the pathophysiology of bleeding disorders and ultimately contribute to improved diagnostic evaluation and personalized patient care.

At the Laboratory of Hematology, section of Thrombosis and Hemostasis in department of Laboratory Medicine, we perform specialized diagnostics for patients with hemostatic disorders and conduct research in the entire spectrum of fundamental, translational and applied science to improve treatment of patients, including patients of the Hemophilia Treatment Center Nijmegen Eindhoven Maastricht (HBC-NEM). Furthermore, we provide education on hemostasis.

You are an aspiring PhD candidate with a keen interest in hemostasis as one of the leading causes for morbidity and mortality. You have the ambition to unravel novel fundamental biological mechanisms, and develop opportunities to improve patient care.

You are proactive in your efforts to approach this research project from multiple angles, and you have excellent communication skills to establish (novel) cooperations as well as eminent writing skills to communicate your findings with the (academic) society.

You have:

• Finished a master in Biochemistry, Molecular Biology, Molecular Life Sciences, Biomedical Sciences or a related master.
• Experience in molecular biology, pathobiology, analytical chemistry, bioinformatics.
• Languages: fluent in English.

• This position requires a Certificate of Conduct (VOG).

We are recruiting for this position ourselves. Unsolicited marketing is not appreciated, but do feel free to share the vacancy in your network!