PhD candidate 'Quest for genetic causes of bleeding tendency'

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.

Tasks and responsibilities as PhD researcher:

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.