While blood clotting is a normal process that continuously occurs in the body, a condition in which blood clots form inside a blood vessel and can travel to the lungs is called venous thromboembolism and represents a serious health problem that often occurs without a clear cause. Researchers used next-generation sequencing to examine genetic variants in patients with unexplained recurrent or severe cases of venous thromboembolism. They identified genetic variants that may adversely affect blood clotting by altering platelet function, suggesting that previously underexplored factors may play an important role. This discovery contributes to a better understanding of unexplained cases of venous thromboembolism and may guide future research in this field.

This study was carried out in collaboration with colleagues from the Blood Transfusion Institute of Serbia.

Exploring genetic drivers of unexplained venous thromboembolism through whole-exome sequencing

Molecular Biology of Hemostasis Group