Areas of Interest
Precise control of the blood-clotting system is essential for maintenance of the circulation in all higher animals. Deficient function of this system can lead to fatal bleeding following even a minor injury, whereas overactivity of this system can produce unwanted blood clots, resulting in blockages to critical blood vessels, as occurs in such diseases as heart attack and stroke.
We study the genetics of blood clotting, the structure and function of key blood clotting proteins, and the processes regulating the cellular secretion of blood clotting and other proteins.
Honors & Awards
- 1989 Elected to American Society for Clinical Investigation (President, 2002)
- 1994 Elected to Association of American Physicians
- 1999 Elected to the National Academy of Medicine (formerly the Institute of Medicine) of the National Academy of Sciences
- 2000 E. Donnall Thomas Lecture and Prize, 2000 Meeting of the American Society of Hematology
- 2002 ISFP Prize, International Society for Fibrinolysis and Proteolysis
- 2002 Sol Sherry Distinguished Lecture, Council on Arteriosclerosis, Thrombosis and Vascular Biology, American Heart Association
- 2003 Basic Research Prize, American Heart Association
- 2004 Stanley J. Korsmeyer Award, American Society for Clinical Investigation
- 2005 Elected to the American Academy of Arts and Sciences
- 2007 Elected to the National Academy of Sciences
- 2008 Distinguished Scientist Award, American Heart Association
- 2010 Robert J. and Claire Pasarow Foundation 22nd Annual Medical Research Award for Cardiovascular Disease
- 2010 Association of American Medical Colleges (AAMC) Distinguished Research in the Biomedical Sciences Award
- 2012 Henry M. Stratton Medal for Basic Research, American Society of Hematology
- 2013 Louis and Artur Lucian Award for Research in Circulatory Diseases, McGill University
- 2017 Distinguished Alumni Award, Duke University School of Medicine
- 2020 Elected to the American Philosophical Society
Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 93(1):61-70, 1998.
Mohlke KL, Purkayastha AA, Westrick RJ, Smith PL, Petryniak B, Lowe J, Ginsburg D. Mvwf, a dominant modifier of von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell 96(1):111-120, 1999.
Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D*, Tsai HM. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413(6855):488-494, 2001. [* corresponding author]
Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D. Bleeding due to disruption of a cargo-specific ER to Golgi transport complex. Nat Genet 34(2):220-225, 2003.
Sun H, Ringdahl U, Homeister JW, Fay WP, Cary Engleberg NC, Yang AY, Rozek LS, Wang X, Sjöbring U, Ginsburg D. Plasminogen is a critical host pathogenicity factor for group A streptococcal infection. Science 305(5688):1283-1286, 2004.
Motto DG, Chauhan AK, Zhu G, Homeister J, Lamb CB, Desch KC, Zhang W, Tsai HM, Wagner DD, Ginsburg D. Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice. J Clin Invest 115(10):2752-2761, 2005.
Ginsburg D. Genetics and genomics to the clinic: A long road ahead. Cell 147(1):17-19, 2011.
Desch KC, Ozel AB, Siemieniak D, Kalish Y, Shavit JA, Thornburg CD, Sharathkumar AA, McHugh CP, Laurie CC, Crenshaw A, Mirel DB, Kim Y, Cropp CD, Molloy AM, Kirke PN, Bailey-Wilson JE, Wilson AF, Mills JL, Scott JM, Brody LC, Lib JZ, Ginsburg D. (2013). Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. Proc Natl Acad Sci USA 110(2):588-593.
Khoriaty R, Hesketh GG, Bernard A, Weyand AC, Mellacheruvu D, Zhu G, Hoenerhoff MJ, McGee B, Everett L, Adams EJ, Zhang B, Saunders TL, Nesvizhskii AI, Klionsky DJ, Shavit JA, Gingras A-C, Ginsburg D. Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo. Proc Natl Acad Sci USA, 115(33):E7748-E7757, 2018.
Tomberg K, Westrick RJ, Kotnik EN, Cleuren AC, Siemieniak DR, Zhu G, Saunders TL, Ginsburg D. Whole exome sequencing of ENU-induced thrombosis modifier mutations in the mouse. PLoS Genet, 2018, 14(9):e1007658.
Emmer BT, Hesketh GG, Kotnik E, Tang VT, Lascuna PJ, Xiang J, Gingras AC, Chen XW, Ginsburg D. The cargo receptor SURF4 promotes the efficient cellular secretion of PCSK9. eLIFE, 2018; 7. pii: e38839.
Cleuren ACA, van der Ent MA, Jiang H, Hunker KL, Yee A, Siemieniak DR, Molema G, Aird WC, Ganesh SK, Ginsburg D. The in vivo endothelial cell translatome is highly heterogeneous across vascular beds. Proc Natl Acad Sci USA 116(47):23618-23624, 2019.
Emmer BT, Sherman EJ, Lascuna PJ, Graham SE, Willer CJ, Ginsburg D. Genome-scale CRISPR screening for modifiers of cellular LDL uptake. PLoS Genet, 2021, 17(1):e1009285.
Haynes LM, Huttinger ZM, Yee A, Kretz CA, Siemieniak DR, Lawrence DA, Ginsburg D. Deep mutational scanning and massively parallel kinetics of plasminogen activator inhibitor-1 functional stability to probe its latency transition. J Biol Chem. 2022 Oct 15:102608.