Jorge Di Paola, M.D.

Professor/Division Chief

Molecular Cell Biology Program
Molecular Genetics and Genomics Program



  • The genetics of bleeding and thrombotic disorders and mechanisms of platelet activation

Research Abstract:

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

Selected Publications:

Bortot M, Ashworth K, Sharifi A, Walker F, Crawford NC, Neeves KB, Bark D Jr, Di Paola J. Turbulent Flow Promotes Cleavage of VWF (von Willebrand Factor) by ADAMTS13 (A Disintegrin and Metalloproteinase With a Thrombospondin Type-1 Motif, Member 13). Arterioscler Thromb Vasc Biol. 2019 Sep;39(9):1831-1842.

Davizon-Castillo P, McMahon B, Aguila S, Bark D, Ashworth K, Allawzi A, Campbell RA, Montenont E, Nemkov T, D'Alessandro A, Clendenen N, Shih L, Sanders NA, Higa K, Cox A, Padilla-Romo Z, Hernandez G, Wartchow E, Trahan GD, Nozik-Grayck E, Jones K, Pietras EM, DeGregori J, Rondina MT, Di Paola J. TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging. Blood. 2019 Aug 29;134(9):727-740.

Branchford BR, Stalker TJ, Law L, Acevedo G, Sather S, Brzezinski C, Wilson KM, Minson K, Lee-Sherick AB, Davizon-Castillo P, Ng C, Zhang W, Neeves KB, Lentz SR, Wang X, Frye SV, Shelton Earp H 3rd, DeRyckere D, Brass LF, Graham DK, Di Paola JA. The small-molecule MERTK inhibitor UNC2025 decreases platelet activation and prevents thrombosis. J Thromb Haemost. 2018 Feb;16(2):352-363.

Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015 May;47(5):535-538.

Last Updated: 1/13/2020 5:17:40 PM

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