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Rodney M. Camire, Ph.D.

Professor of Pediatrics
Department: Pediatrics
Graduate Group Affiliations

Contact information
The Children's Hospital of Philadelphia
The Colket Translational Research Bldg., Room 5018
3501 Civic Center Blvd.
Philadelphia, PA 19104-4399
Office: 215-590-9968
Fax: 215-590-3660
Lab: 215-590-3873
Education:
B.A. (Biochemistry)
Saint Anselm College, 1994.
Ph.D. (Biochemistry)
University of Vermont, 1998.
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Description of CVI Expertise

CVI Program Unit(s):
Thrombosis / Hemostasis

CVI Research Description:

My laboratory is interested in understanding the components of the blood coagulation system, how they interface with activated cells, and how disturbances in their function lead to bleeding and thrombosis. We are also interested in developing therapeutic approaches (protein and gene-based) to mitigate these events which are major causes of morbidity and mortality worldwide. We are interested in questions related to the enzymology, biochemistry, and molecular genetics of enzyme complexes involved in blood coagulation. Numerous systems are employed to answer these questions including kinetic, biophysical, and structural approaches in addition to using in vivo models to make meaningful contributions to the field. The current areas of investigation in the laboratory include:

1. Molecular basis of procofactor activation: We are interested in understanding how FV and FVIII are preserved as inactive procofactors and defining their mechanism of activation. Our work has uncovered surprising and unexpected observations that have fundamentally shifted current thinking about FV activation and its regulation by TFPI.

2. Structural correlates of protease function-basic and translational research: We seek to better understand how processing of inactive serine protease zymogens such as FX and FIX, to their active forms contributes to the expression of binding sites critical to their function. Knowledge from these biochemical studies has been applied to translational studies, some in collaboration with companies, to develop novel protein therapeutics to treat bleeding in hemophilia, trauma, or other conditions.

3. Imaging coagulation reactions in vivo. We have taken advantage of fluorescence approaches developed for physical studies of coagulation enzyme function to develop enabling technologies that permit quantitative measurements of enzyme complex assembly and function in vivo.

4. Employ gene therapy strategies for hemophilia A/B by employing novel modifications to the protein cofactor, factor VIII or zymogen FIX. Using different bioengineering strategies we are interested in modifying FVIII or FIX with unique properties that could be useful in a gene-based approach.

Selected Publications

Borst S, Nations CC, Klein JG, Pavani G, Maguire JA, Camire RM, Drazer MW, Godley LA, French DL, Poncz M, Gadue P.: Study of inherited thrombocytopenia resulting from mutations in ETV6 or RUNX1 using a human pluripotent stem cell model. Stem Cell Reports 16: 1458-1467, Jun 2021.

Petrillo, T., Ayombil, F., van't Veer, C., and Camire, R.M: Regulation of factor V and factor V-short by TFPIα: Relationship between B-domain proteolysis and binding. J. Biol. Chem. 296: 100234, Jan 2021 Notes: Editors' Picks; DOI:https://doi.org/10.1074/jbc.RA120.016341.

Samelson-Jones, B.J., Finn, J.D., Chau, J., Chen, Z. Raffini, L.J., Merricks, E.P., Camire, R.M., Nichols, T.C., and Arruda, V.R: Evolutionary insights into coagulation factor IX Padua and other high-specific-activity variants. Blood Advances 5(5): 1324-1332, 2021.

Zimowski KL, Petrillo T, Ho MD, Wechsler J, Shields JE, Denning G, Jhita N, Rivera AA, Escobar MA, Kempton CL, Camire RM, Doering CB.: F5-Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV-short production. J. Thromb. Haemost. 19(7): 1653-1665, 2021 Notes: DOI: 10.1111/jth.15314.

Wilhelm, A.R., Parsons, N.A., Samelson-Jones, B.J., Davidson, R.J., Esmon, C.T., Camire, R.M., and George, L.A: Activated protein C has a regulatory role in factor VIII function. Blood 137(18): 2532-2543, 2021 Notes: DOI: 10.1182/blood.2020007562

Ayombil, A. and Camire, R.M: Insights into vitamin K-dependent carboxylation: home field advantage. Haematologica 105(8): 1996-1998, 2020.

Bern, M., Nilsen, J., Ferrarese, M., Sand, K.M.K., Gjolbert, T.T., Lode, H.E., Davidson, R.J., Camire, R.M., Baekkevold, E.S., Foss, S., Grevys, A., Dalhus, B., Wilson, J., Hoydahl, L.S., Christianson, G.J., Roopenian, D.C., Schlothauer, T., Michaelson, T.E., Moe, M.C., Lombardi, S., Pinotti, M., Sandlie, I., Branchini, A., and Terje Andersen, J: An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics. Sc., Transl. Med. 12(565): eabb0580, 2020.

Yu X, Panckeri KA, Ivanciu L, Camire RM, Coxon CH, Cuker A, Diamond SL: Microfluidic hemophilia models using blood from healthy donors. Res Pract Thromb Haemostasis 4(1): 54-63, Dec 2019.

Lyde, R.B., Ahn, H.S., Vo, K.K., Jarocha, D.J., Tkaczynski, J., Treffeisen, E., Sullivan, S.K., Camire, R.M., Sabatino, D..E., French, D.L., Poncz, M: Infused factor VIII-expressing platelets or megakaryocytes as a novel therapeutic strategy for hemophilia A. Blood Advances 3(9): 1368-1378, 2019.

Samelson-Jones, B.J., Finn, J.D., George, L.A., Camire, R.M., Arruda, V.R: Hyperactivity of factor IX Padua (R338L) depends on factor VIIIa cofactor activity. JCI Insight 4(14): e128683, 2019.

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Last updated: 08/09/2021
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