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 molecular genetics of blood clotting, specifically von Willebrand factor, coagulation factor V and plasminogen activation.
Honors & Awards
1999 Distinguished Faculty Lectureship Award in Biomedical Research, University of Michigan Medical School
1999 Elected to the Institute of Medicine of the National Academy of Sciences
1999 Fall 1999 Medical Student Award for Teaching Excellence, University of Michigan Medical School
2000 E. Donnall Thomas Lecture and Prize, 2000 Meeting of the American Society of Hematology
2000 Distinguished Faculty Achievement Award, University of Michigan Medical School
2001 Elected to AAAS Fellowship, American Association for the Advancement of Science
2001-2011 NIH MERIT Award, National Institutes of Health
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 James V. Neel Distinguished University Professor of Internal Medicine and Human Genetics, University of Michigan
2003 Basic Research Prize, American Heart Association
2004 ASCI Award, American Society for Clinical Investigation
2005 Elected to the American Academy of Arts and Sciences
2006 Cotlove Award, Academy of Clinical Laboratory Physicians and Scientists (ACLPS)
2007 Elected to the National Academy of Sciences
2007 Distinguished Career Award, Biennial Awards for Contributions in Hemostasis, XXIth International Society on Thrombosis and Hemostasis Congress, Geneva, Switzerland
2007 Clement Finch Visiting Professor, Department of Medicine, University of Washington School of Medicine, Seattle, WA
2007 33rd Alan Coopersmith Professorship, Department of Pediatrics, Johns Hopkins University, Baltimore, MD
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.
Bernat JA, Crawford GE, Ogurtsov AY, Collins FS, Ginsburg D*, Kondrashov AS. Distant conserved sequences flanking endothelial-specific promoters contain tissue specific DNase-hypersensitive sites and over-represented motifs. Hum Mol Genet 15(13):2098-2105, 2006. [* corresponding author]
Lemmerhirt HL, Shavit JA, Levy GG, Cole SM, Long JC, Ginsburg D. Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene. Blood 108(9):3061-3067, 2006.
Buchner DA, Su F, Yamaoka JS, Kamei M, Shavit JA, Barthel LK, McGee B, Amigo JD, Kim S, Hanosh AW, Jagadeeswaran P, Goldman D, Lawson ND, Raymond PA, Weinstein BM, Ginsburg D*, Lyons SE. pak2a mutations cause cerebral hemorrhage in redhead zebrafish. Proc Natl Acad Sci USA 104(35):13996-14001, 2007 [* corresponding author].
Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham E, Seligsohn U, Peyvandi F, Ginsburg D. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood 111(12):5592-5600, 2008.
Baines A.C., Adams E.J., Zhang B., Ginsburg D. (2013). Disruption of the Sec24d Gene Results in Early Embryonic Lethality in the Mouse. PLoS ONE 8(4). PubMed link
Chen XW, Wang H, Bajaj K, Zhang P, Meng X, Ma D, Bai Y, Adams E, Baines A, Yu G, Sartor MA, Zhang B, Yi Z, Lin J, Young SG, Schekman R and Ginsburg D. (2013). SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion. eLife, 2e99444.
Desch K.C., Ozel A.B., Siemieniak D., Kalish Y., Shavit J.A., Thornburg C.D., Sharathkumar A.A., McHugh C.P., Laurie C.C., Crenshaw A., Mirel D.B., Kim Y., Cropp C.D., Molloy A.M., Kirke P.N., Bailey-Wilson J.E., Wilson A.F., Mills J.L., Scott J.M., Brody L.C., Lib J.Z., Ginsburg D. (2013). Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. Proceedings of the National Academy of Sciences of the United States of America 110(2):588-593.
Everett L, Desch K, Ginsburg D. Molecular and Clinical Genetics. (2013). In: Hemostasis and Thrombosis: Basic Principles and Clinical Practice, Marder VJ, Aird WC, Bennett JS, Schulman S, White, II GC (eds), Sixth Edition, (Philadelphia: Lippincott Williams & Wilkins), p. 26-40.