Dr Joanna Baxter
Position: Senior Research Associate
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The Cambridge Blood and Stem Cell Biobank is a facility of over 6000 viable and nucleic acid samples, the majority from patients with haematological malignancy and clonal blood cell disorders; and the remainder, around 20%, from normal individuals, mostly umbilical cord blood. The Biobank was established in 2009, and supports research in the the University Departments of Haematology and Medical Genetics, the Sanger Institute, and their collaborators. Since its inception, the biobank has played an active role in supporting research with significant input into high impact publications. We have transferred over 2000 samples to local researchers in the past 5 years, including over 500 cord blood samples, with a strong emphasis on high quality material for next generation sequencing technologies and cell assays. The aims of the biobank in the coming years are to expand collection of patient samples to cover all types of haematological malignancy, to consolidate all samples collected since 1992 by local researchers into a fully searchable sample and clinical data resource, and to raise the profile of research with patients and visitors to the site.
Cambridge Blood and Stem Cell Biobank Haematological cancer Leukaemia Myeloproliferative Neoplasms
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Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2.J. Nangalia, C.E. Massie, E.J. Baxter, F.L. Nice, G. Gundem, D.C. Wedge, E. Avezov, J. Li, K. Kollmann, D.G. Kent, A. Aziz, A.L. Godfrey, J. Hinton, I. Martincorena, P. Van Loo, A.V. Jones, P. Guglielmelli, P. Tarpey, H.P. Harding, J.D. Fitzpatrick, C.T. Goudie, C.A. Ortmann, S.J. Loughran, K. Raine, D.R. Jones, A.P. Butler, J.W. Teague, S. O'Meara, S. McLaren, M. Bianchi, Y. Silber, D. Dimitropoulou, D. Bloxham, L. Mudie, M. Maddison, B. Robinson, C. Keohane, C. Maclean, K. Hill, K. Orchard, S. Tauro, M.-Q. Du, M. Greaves, D. Bowen, B.J.P. Huntly, C.N. Harrison, N.C.P. Cross, D. Ron, A.M. Vannucchi, E. Papaemmanuil, P.J. Campbell, and A.R. Green. N Engl J Med 2013; 369:2391-2405. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 122(22): 3616-3627. Papaemmanuil, E., M. Gerstung, et al. (2013). Cooperativity of imprinted genes inactivated by acquired chromosome 20 deletions. Aziz A*, Baxter EJ*, Edwards, CA, Cheong CY, Ito M, Bench AJ, Kelley R, Silber Y, Beer PA, Chng K, Renfree MB, McEwen K, Gray D, Nangalia J, Mufti GJ, Hellstrom-Lindberg E, Kiladjian J-J, McMullin MF, Campbell PJ, Ferguson-Smith AC and Green AR. J Clin Invest. 2013;123(5):2169?2182.. Methods for Detecting Mutations in the Human JAK2 Gene. Bench AJ*, Baxter EJ*, Green AR. Methods Mol Biol. 2013;967:115-31. JAK2V617F homozygosity arises commonly and recurrently in PV and ET, but PV is characterized by expansion of a dominant homozygous subclone. Godfrey AL, Chen E, Pagano F, Ortmann CA, Silber Y, Bellosillo B, Guglielmelli P, Harrison CN, Reilly JT, Stegelmann F, Bijou F, Lippert E, McMullin MF, Boiron JM, Döhner K, Vannucchi AM, Besses C, Campbell PJ, Green AR. Blood. 2012 Sep 27;120(13):2704-7. Bivalent promoter marks and a latent enhancer may prime the leukaemia oncogene LMO1 for ectopic expression in T-cell leukaemia. Oram SH, Thoms J, Sive JI, Calero-Nieto FJ, Kinston SJ, Schütte J, Knezevic K, Lock RB, Pimanda JE, Göttgens B. Leukemia. 2013 Jun;27(6):1348-57. A powerful molecular synergy between mutant Nucleophosmin and Flt3-ITD drives acute myeloid leukemia in mice. Mupo A, Celani L, Dovey O, Cooper JL, Grove C, Rad R, Sportoletti P, Falini B, Bradley A, Vassiliou GS. Leukemia (2013) 27, 1917?1920. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. Papaemmanuil, E., M. Cazzola, et al. The New England journal of medicine 365(15): 1384-1395. (2011). Effects of the JAK2 mutation on the hematopoietic stem and progenitor compartment in human myeloproliferative neoplasms. Anand, S., F. Stedham, et al. Blood 118(1): 177-181. (2011). Increased basal intracellular signaling patterns do not correlate with JAK2 genotype in human myeloproliferative neoplasms. Anand, S., F. Stedham, et al. Blood 118(6): 1610-1621. (2011). Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling. Chen, E., P. A. Beer, et al. Cancer cell 18(5): 524-535. (2010).