Personal profile
Research interests
Our lab's research focuses on the genetics of bleeding and thrombotic disorders and mechanisms of platelet activation. Our laboratory has made discoveries on the genetics of von Willebrand disease, signaling pathways that contribute to the procoagulant response in platelets, novel roles for platelet mitochondria and the genetic variation of platelet receptors. More recently our research focuses on Megakaryopoiesis and its role on bone marrow homeostasis. Our laboratory has found disease causing genes for thrombocytopenia disorders as well as a cancer predisposition syndrome. Specifically, that mutations in NBEAL2 cause the elusive Gray Platelet Syndrome and that mutations in ETV6 cause thrombocytopenia and predisposition to leukemia. These discoveries have set the stage for potential new therapies. Current research projects in the DiPaola lab include: von Willebrand disease, platelet biology and function, study of hemostasis under flow, genetics/genomics of blood disorders, thrombo-inflammation, megakaryopoiesis, Acquired von Willebrand syndrome Techniques utilized in the DiPaola lab: clinical diagnostic assays, in vitro blood cell characterization, microfluidic flow studies, intravital microscopy, in silico and in vitro functional assays, animal models of thrombosis and hemostasis, transcriptional analysis technique
Keywords
- COVID-19
Available to Mentor:
- PhD Students
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Collaborations and top research areas from the last five years
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A proteogenomic gene signature defines prognostic subgroups highlighting PI3K/AKT/mTOR signaling pathway as a therapeutic vulnerability in myeloid malignancies
He, F., Lin, S., Gao, B., Ramesh, V., Kim, A. B., Kong, T., Fisher, D. A. C., Letson, C. T., Brakhane, M., Fulbright, M., Yu, Y., Sardiello, M., Di Paola, J., Sykes, S. M. & Oh, S. T., Dec 2026, In: Cell Communication and Signaling. 24, 1, 61.Research output: Contribution to journal › Article › peer-review
Open Access -
Corrigendum to “Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels” Corrigendum to: Evaluation of a microfluidic flow assay to screen for von Willebrand disease and low von Willebrand factor levels (Journal of Thrombosis and Haemostasis, (2018), 16, 1, (104-115), (S153878362203639X), 10.1111/jth.13881)
Lehmann, M., Ashworth, K., Manco-Johnson, M., Di Paola, J., Neeves, K. B. & Ng, C. J., Feb 2026, In: Journal of Thrombosis and Haemostasis. 24, 2, p. 786 1 p.Research output: Contribution to journal › Comment/debate
Open Access -
Introduction to a review series on hemophagocytic lymphohistiocytosis
Heslop, H. E. & Di Paola, J., Mar 5 2026, In: Blood. 147, 10, p. 1005-1006 2 p.Research output: Contribution to journal › Editorial
Open Access -
Association of human leucocyte antigen loci with vaccine-induced immune thrombotic thrombocytopenia: Potential role of the interaction between platelet factor 4-derived peptides and MHC-II
Petito, E., Bury, L., Antunes Heck, L., Sadler, B., De Candia, E., Podda, G. M., Falanga, A., Stefanini, L., Boccatonda, A., Sciancalepore, P., Florio, I., Imbalzano, E., Marcucci, R., Noris, P., Panella, M., Santoro, R. C., Turi, M. C., Vaudo, G., Di Paola, J. & Rondina, M. T. & 1 others, , Jan 2025, In: British Journal of Haematology. 206, 1, p. 290-295 6 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Link opens in a new tab Scopus citations -
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF
Atiq, F., Blok, R., van Kwawegen, C. B., Hulshof, A. M., Doherty, D., Lavin, M., van der Bom, J. G., O'Connell, N. M., de Meris, J., Ryan, K., Schols, S. E. M., van Heerde, W. L., Doyle, M., Byrne, M., Heubel-Moenen, F. C. J. I., van Galen, K. P. M., Preston, R. J. S., Cnossen, M. H., Fijnvandraat, K. & Baker, R. I. & 6 others, , Jul 17 2025, In: Blood. 146, 3, p. 369-381 13 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations