Pavan K. (Tem) Bendapudi, MD: Large-Scale Analyses Elucidate Genetic Risk of Thrombosis

New large-scale database analyses of hemostasis-related genes have elucidated relationships between genes such as protein S (PROS1) and factor 12 (FXII) and thrombosis.

Findings from the analyses were presented at the 66th American Society of Hematology (ASH) Annual Meeting and Exposition, held December 7-10, 2024, in San Diego, California, by members of the lab of Pavan K. (Tem) Bendapudi, MD, Assistant Professor of Medicine, Harvard Medical School, and Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center.

“[This work] really highlights the value of these extremely large population scale next generation sequencing data sets to answer long standing and kind of previously unapproachable questions in hemostasis and thrombosis. And I would just encourage people to stay tuned, because we have a lot of other ideas and a lot of other things we're interested in looking into, and I think we will have, finally, have the power to do that in a way we weren't able to before,” Bendapudi told HCPLive® during the meeting.

Among the new findings were a stronger than previously though relationship between PROS1 deficiency and thrombosis and a protective effect against venous thromboembolism (VTE) in people with inherited FXII deficiency. In this clip, Bendapudi discussed the research more in-depth and emphasized the potential of new technology, such as that employed in this research from the Broad Institute's Cardiovascular Disease Initiative, to enable these large-scale analyses.

Bendapudi's relevant disclosures include Takeda Pharmaceuticals, Verve Therapeutics, and Alexion Pharmaceutical.

REFERENCES

1. Chaudhry SA, Haj AK, Ryu J, et al. Leveraging Population-Scale Multiomic Datasets to Elucidate the Risk of Thrombosis Associated with Protein S (PROS1) Deficiency. Presented at: ASH Annual meeting; December 7-10; San Diego, California. Abstract 17

2. Haj AK, Paul D, Chaudhry SA, et al. Coagulation Factor XII (F12) Haploinsufficiency Is Protective Against Venous Thromboembolism. Presented at: ASH Annual meeting; December 7-10; San Diego, California. Abstract 133.