Professor Andrew Perkins

Honorary Professor

School of Biomedical Sciences
Faculty of Medicine

Honorary Professor

Mater Research Institute-UQ
Faculty of Medicine


Reviews (edited list from 1999 onwards):

  1. Kruppeling Erythropoiesis: The increasing importance of DNA sequencing in human genetic disease illustrated by variants of a master regulator of erythropoiesis. Andrew Perkins, Xiangmin Xu, Douglas R. Higgs, The KLF1 Consensus Workgroup, George P. Patrinos, Lionel Arnaud, James J. Bieker and Sjaak Philipsen. Blood (2016) 127(15):1856-62 IF=11.8 Cit=2 (GS7)
  2. Macrophages and regulation of erythropoiesis. Jacobsen R, Perkins AC and Levesque J-P. Current Opinion in Hematology (2015) 22(3):212-9. IF 3.3 Cit=5 (GS8)
  3. Three Fingers on the Switch: KLF1 regulation of the g- to b-globin switch. Tallack MR and Perkins AC. Current Opinion in Hematology (2013) 20 (3):193-200. IF 3.3 Cit=22 (GS30)
  4. KLF1 Directly Coordinates Almost All Aspects of Terminal Erythroid Differentiation. Tallack MR, Perkins AC. IUBMB LIFE (2010) 62 (12); 886-890 IF 2.7 Cit=28 (GS32)
  5. Erythroid Kruppel-like factor: from fishing expedition to gourmet meal. Perkins, AC. Int J Biochem Cell Biol (1999) 31; 1175-1192. IF 4.0, Cit=48 (GS62)

Oringial Manuscripts (edited selected list from 64 total)

  1. A case-based discussion of clinical problems in the management of patients treated with ruxolitinib for myelofibrosis. P. Joy Ho, Ashish Bajel, Kate Burbury, Lindsay Dunlop, Simon Durrant, Cecily Forsyth, Andrew C. Perkins, David M. Ross. Submitted to Internal Medicine Journal. (accepted Nov 2016) IF=2.6
  2. Promiscuous DNA-binding of a mutant zinc finger protein corrupts the transcriptome and derails differentiation. Gillinder K, Ilsley M, Lajoie M, Magor G, Tallack M, Landsberg M, Bailey T, Mackay J, Bieker J, Peters L, Perkins AC. Nucleic Acids Research (accepted October 2016) IF=9.2
  3. Diagnosis in Subdural Myeloid Sarcoma. Alan Lackey, Barbara Laing, Andrew Perkins, Michael Bryant. Journal of Neuroradiology IF=2.8 (accepted September 2016).
  4. Rapid molecular profiling of myeloproliferative neoplasms using targeted exon re-sequencing of 86 genes involved in JAK-STAT signalling and epigenetic regulation. Graham W. Magor, Michael R. Tallack, Nathan M. Klose, Debbie Taylor, Darren Korbie, Peter Mollee, Matt Trau and Andrew C. Perkins. Journal of Molecular Diagnostics (2016) Sep; 18(5):707-18 IF=5.2
  5. High fat diet and the colonic mucus barrier: Implications for Obesity and Inflammatory Bowel Disease. Max Gulhane, Lydia Murray, Ran Wang, Hui Ton, Jakob Begun, Graham Magor, Tim Florin, Andrew Perkins, Michael McGuckin and Sumaira Hasnain. Scientific Reports (2016) Jun 28; 6:28990 IF=5.2
  6. The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation. Charles C. Bell, Paulo P. Amaral, Anton Kalsbeek, Graham W. Magor, Kevin R. Gillinder, Pierre Tangermann, Lorena di Lisio, Seth W. Cheetham, Franziska Gruhl, Jessica Frith, Michael R. Tallack, Ke-Lin Ru, Joanna Crawford, John S. Mattick, Marcel E. Dinger, and Andrew C. Perkins. Scientific Reports (2016) May 26; 6:26657. IF=5.2
  7. KLF1 null humans display hydrops fetalis and a deranged erythroid transcriptome. Magor G, Tallack M, Gillinder K, Williams B, Perkins AC. Blood (2015) 125(15):2405-17. IF=11.8 Cit=9 (GS12)
  8. A pooled analysis of overall survival in COMFORT-I and COMFORT-II, 2 randomized phase III trials of ruxolitinib for the treatment of myelofibrosis. Vannucchi AM, Kantarjian HM, Kiladjian JJ, Gotlib J, Cervantes F, Mesa RA, Sarlis NJ, Peng W, Sandor V, Gopalakrishna P, Hmissi A, Stalbovskaya V, Gupta V, Harrison C, Verstovsek S; COMFORT Investigators including Perkins AC. Haematologica (2015) 100(9):1139-45. IF=6.7 Cit=22 (GS22)
  9. Identification of novel hypomorphic and null mutations in Klf1 derived from a genetic screen for modifiers of a-globin transgene variegation. Anabel Sorolla, Michael R. Tallack, Harald Oey, Sarah K Harten, Lucia Clemens-Daxinger, Graham W. Magor, Alex N Combes, Melissa Ilsley, Emma Whitelaw, Andrew C. Perkins. Genomics (2015) 105(2):116–122 IF=2.4 Cit=2 (GS3)
  10. A high-throughput screening strategy for detecting CRISPR-Cas9 induced mutations using next generation sequencing. Bell C, Magor G, Gillinder K, Perkins AC. BMC Genomics (2014) 15:1002 IF=3.9 Cit=13 (GS22)
  11. Heme-Bound Iron Activates Placenta Growth Factor via Erythroid Krüppel‐like Factor in Erythroid Cells. Wang X, Mendelsohn L, Rogers H, Leitman S, Tallack M, Perkins AC, Taylor JG, Noguchi CT, Kato GJ. Blood (2014) Aug 7;124(6):946-54 IF=11.8 Cit=9 (GS 11)
  12. Interaction of c-Myb with p300 is required for the induction of acute myeloid leukemia (AML) by human AML oncogenes. Pattabiraman DR, Shakhbazov K, Barbier V, Krishnan K, Mukhopadhyay P, Grimmond SM, Papathanasiou P, Perkins AC, Alexander WS, Levesque J-P, Winkler, IG, and Gonda TJ. Blood (2014) Apr 24; 123(17):2682-90 IF=11.8 Cit=20 (GS 21)
  13. Generation of mice deficient in both KLF3/BKLF and KLF8 reveals a genetic interaction and a role for these factors in embryonic globin gene silencing. Alister P. W. Funnel, Ka Sin Mak, Natalie A. Twine, Gregory J. Pelka, Laura J. Norton, Tania Radziewic, Melinda Power, Marc R. Wilkins, Kim S. Bell-Anderson, Stuart T. Fraser, Andrew C. Perkins, Patrick P. Tam, Richard C. M. Pearson and Merlin Crossley. Mol Cel Biol. (2013) Aug; 33(15):2976-87. IF=4.2 Cit=15 (GS 18)
  14. Prediction of novel long non-coding RNAs based on RNA-Seq data of mouse Klf1 knockout study. Lei Sun, Zhihua Zhang, Timothy Bailey, Andrew C. Perkins, Michael R. Tallack and Hui Liu. BMC Bioinformatics. (2012) Dec 13; 13(1):331. IF=2.4 Cit=30 (GS 44)
  15. Novel roles for Klf1 in erythropoiesis revealed by mRNA-seq. Michael R. Tallack, Lei Sun, Graham W. Magor, Stephen Huang, Sally V. Fry, Evgeny A. Glazov, Timothy L. Bailey and Andrew C. Perkins. Genome Research (2012) Dec; 22(12):2385-98. IF=11.2 Cit=39 (GS 54)
  16. The F-BAR Protein NOSTRIN is a component of the fibroblast growth factor receptor 1 (FGFR1) Signal transduction complex and important for vascular development. Igor Kovacevic, Jiong Hu, Ann Siehoff-Icking, Nils Opitz, Aliesha Griffin, Andrew C. Perkins, Alan L. Munn, Werner Muller-Esterl, Rüdiger Popp, Benno Jungblut, Meike Hoffmeister, Stefanie Oess. EMBO J. (2012) Aug 1;31(15):3309-22 IF=9.6 Cit=15 (GS 18)
  17. The CACCC-binding protein Klf3/Bklf represses a subset of Klf1/Eklf target genes and is required for proper erythroid cell maturation in vivo. Funnell AP, Norton LJ, Mak KS, Burdach J, Artuz CM, Twine NA, Wilkins MR, Power CA, Hung TT, Perdomo J, Koh P, Bell-Anderson KS, Orkin SH, Fraser ST, Perkins AC, Pearson RCM, and Crossley MP. Mol Cel Biol. (2012) Aug; 32(16):3189-92. IF=4.2 Cit=18 (GS 24)
  18. Macrophage activation and differentiation signals regulate schlafen-4 gene expression: evidence for Schlafen-4 as a modulator of myelopoiesis. van Zuylen WJ, Garceau V, Idris A, Schroder K, Irvine KM, Lattin JE, Ovchinnikov DA, Perkins AC, Cook AD, Hamilton JA, Hertzog PJ, Stacey KJ, Kellie S, Hume DA, Sweet MJ. PLoS One. (2011) Jan 7; 6(1):e15723. IF=3.1 Cit=19 (GS 30)
  19. A recessive screen for genes regulating hematopoietic stem cells. Papathanasiou P, Tunningley R, Pattabiraman DR, Ye P, Gonda TJ, Whittle B, Hamilton AE, Cridland SO, Lourie R, and Perkins AC. Blood (2010) 116 (26) p5858. IF=11.8 Cit=12 (GS 20)
  20. A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells. Tallack MR, Whitington T, Yuen WS, Wainwright EN, Keys JR, Gardiner BB, Nourbakhsh E, Cloonan N, Grimmond SM, Bailey TL, Perkins AC. Genome Research (2010) 20 (8) p1052-1063. IF=11.4 Cit=99 (GS 135)
  21. Complex architecture and regulated expression of the Sox2ot locus during vertebrate development. Paulo P. Amaral, Christine Neyt, Simon J. Wilkins, Marjan Askarian-Amiri, Susan M. Sunkin, Andrew C. Perkins, John S. Mattick. RNA (2009) Nov 15 (11):2013-27. IF=4.3 Cit=67 (GS 91)
  22. Megakaryocyte-erythroid lineage promiscuity in EKLF null mouse blood. Tallack, M, and Perkins AC. Haematologica (2010) 95(1) p 144-147 IF=6.7 Cit=14 (GS 21)
  23. Ihh supports definitive erythropoiesis. Simon Cridland, Janelle Keys, Peter Papathanasiou, Andrew Perkins. Blood Cells Molecules and Diseases (2009) 43 (2) p149-155 IF=2.8 Cit=15 (GS 20)
  24. Evolution of gene function and regulatory control after whole-genome duplication: Comparative analyses in vertebrates. Karin Sonja Kassahn, Vinh Toan Dang, Simon J. Wilkins, Andrew C. Perkins, and Mark A. Ragan. Genome Research (2009) 19:1404-1418 IF=11.2 Cit=81 (GS 111)
  25. EKLF/KLF1 controls the cell cycle via direct regulation of E2f2. Tallack M, Keys JR, Humbert, PO, Perkins AC. Journal of Biological Chemistry (2009) Jul 31;284 (31):20966-74 IF=4.3 Cit=33 (GS 37)
  26. High-throughput chromatin information enables accurate tissue-specific prediction of transcription factor binding sites. Whittington T, Perkins AC, Bailey TL. Nucleic Acids Research (2009) Jan 37(1):14-25. IF=9.2 Cit=37 (GS 51)
  27. Long non-coding RNAs in mouse ES cell pluripotency and differentiation. Marcel E. Dinger, Paulo P. Amaral, Tim R. Mercer, Ken C. Pang, Stephen Bruce, Brooke Gardiner, Marjan Askarian-Amiri, Giulia M.E.A. Soldà, Cas Simons, Susan M. Sunkin, Mark L. Crowe, Sean M. Grimmond, Andrew C. Perkins, John S. Mattick. Genome Research (2008) 18(9):1433-45 IF=11.4 Cit=358 (GS 507)
  28. Stem cell transcriptome profiling via massive scale shotgun short tag sequencing. Nicole Cloonan, Alistair R.R. Forrest, Gabriel Kolle, Brooke B.A. Gardiner, Geoffrey J. Faulkner, Mellissa K. Brown, Darrin F. Taylor, Anita Steptoe, Graeme Bethel, Alan J. Robertson, Andrew C. Perkins, Stephen Bruce, Clarence Lee, Heather Peckham, Kevin McKernan, Sean M. Grimmond. Nature Methods (2008) 5(7):613-9 IF=25.3 Cit=561 (GS 859)
  29. Targeted disruption of the Basic Krüppel-like Factor (Klf3) gene reveals a role in adipogenesis. Nancy Sue, Briony Jack, Sally Eaton, Richard Pearson, Alister Funnell, Jeremy Turner, Robert Czolij, Gareth Denyer, Bob Bao, Juan Carlos Molero, David James, Andrew Perkins, Yuko Fujiwara, Stuart Orkin, Kim Bell-Anderson and Merlin Crossley. Mol Cell Biol. (2008) 28(12):3967-78 IF=4.2 Cit=65 (GS 93)
  30. A mechanism for Ikaros regulation of human globin gene switching. Keys JR, Tallack M, Crossley PM, Gaensler KML, Papathanasiou P, Smale S, Goodnow CC, Perkins AC. Br J Haematol (2008) 141(3):398-406 IF=5.4 Cit=24 (GS 35)
  31. Mtx2 directs zebrafish morphogenetic movements during epiboly by regulating microfilament formation. Wilkins SJ, Yoong S, Verkade H, Mizoguchi T, Plowman SJ, Hancock JF, Kikuchi Y, Heath JK, and Perkins AC. Developmental Biology (2008) 314 (1):12-22 IF=3.2 Cit=19 (GS20)
  32. Dynamic transcription programs during ES cell differentiation towards mesoderm in serum versus serum-free (BMP4) culture. Stephen Bruce, Brooke Gardiner, Lez Burke, Simon Cridland, Anita Steptoe, Jack Flanagan, Milena Gongora, Sean Grimmond and Andrew Perkins. BMC Genomics (2007) 8 (1):365 IF=3.9 Cit=45 (GS 65)
  33. A global role for zebrafish klf4 in embryonic erythropoiesis. Gardiner M, Gongora M, Grimmond S, Perkins AC. Mech. Dev. (2007) 124 (9-10):762-74 IF=2.0 Cit=28 (GS 39)
  34. Erythroid Kruppel-like factor regulates the G1 cyclin dependent kinase inhibitor, p18INK4c. Tallack M, Keys JR, Perkins AC. J. Mol. Biol. (2007) 369 (2):313-21 IF=4.3 Cit=24 (GS 25)
  35. In vitro differentiation of murine embryonic stem cells toward a renal lineage. Stephen J Bruce, Ashley L Rossiter, Anita L Steptoe, Meinrad Busslinger, John F Bertram & Andrew C Perkins. Differentiation (2007) 75(5):337-49 IF=2.5 Cit=69 (GS 92)
  36. Erythroid Krüppel-like Factor Directly Activates the Basic Krüppel-like Factor Gene in Erythroid Cells. Alister P.W. Funnell, Chris A. Maloney, Lucinda J. Thompson, Janelle Keys, Michael Tallack, Andrew Perkins and Merlin Crossley. Mol Cell Biol. 27 (7):2777-90 (2007). IF=4.4 Cit=54 (GS 75)
  37. Genomic organisation and regulation of murine alpha haemoglobin stabilising protein by erythroid Kruppel-like factor. Janelle Keys, Michael Tallack, Denise Hodge, Simon Cridland, Rakesh David, and Andrew Perkins. Br J Haematol. 136, 150–157 (2007) IF=5.4 Cit=18 (GS 24)
  38. Human KLF17 is a new member of the Sp/KLF family of transcription factors. Jane van Vliet, Linda A. Crofts, Andrew C. Perkins and Merlin Crossley. Genomics 87 (4): 474-482 (2006). IF 2.3 Cit=59 (GS 85)
  39. A global role for EKLF in definitive and primitive haematopoiesis. Hodge D, Coghill E, Maguire T, Keys J, Hartmann B, Weiss, M, McDowell, A, Grimmond S, Perkins AC. Blood 107 (8): 3357-3370 (2006) IF=11.8 Cit=131 (GS 191)
  40. Zebrafish KLF4 is essential for anterior mesendoderm/pre-polster differentiation and hatching. Gardiner MR, Daggett DF, Zon LI, and Perkins AC. Dev. Dyn Dec; 234 (4):992-6 (2005) IF 2.2 Cit=16 (GS 21)
  41. Widespread failure of hematolymphoid differentiation caused by a recessive niche-filling allele of the Ikaros transcription factor. Papathanasiou P, Perkins AC, Cobb BS, et al. Immunity 19 (1) p 131-144 (2003) IF=24.1 Cit=93 (GS 125)
  42. Neptune, a Kruppel-like transcription factor that participates in primitive erythropoiesis in Xenopus. Huber T, Perkins AC, Deconinck A, Chan F-Y, Mead PE, and Zon LI. Current Biology, 11: 1456-1461 (2001) IF=9.0 Cit=35 (GS 43)
  43. Erythroid Kruppel-like factor (EKLF) co-ordinates erythroid cell proliferation and haemoglobinisation in cell lines derived from EKLF-/- mice. Coghill E, Eccleston S, Brown C, Fox V, Cerutti L, Jane S, Cunningham J, and Perkins AC. Blood 97, 1861-1868 (2001). IF=11.8 Cit=61 (GS 79)
  44. An essential role in liver development for transcription factor XBP-1. Reimold AM, Etkin A, Clauss I, Perkins AC, Friend DS, Zhang J, Horton HF, Scott A, Orkin SH, Byrne MC, Grusby MJ, Glimcher LH. Genes Dev.; 14 (2):152-7 (2000). IF=10.0 Cit=295 (GS 419)
  45. SEK1 deficiency reveals mitogen-activated protein kinase cascade cross-regulation and leads to abnormal hepatogenesis. Ganiatsas S, Kwee L, Fujiwara Y, Perkins AC, Ikeda T, Orkin SH, Lebow MA, and Zon LI. PNAS 95 (12):6881-6 (1998). IF 9.4 Cit=161 (GS 202)
  46. Thrombopoietin rescues in vitro erythroid colony formation from mouse embryos lacking the erythropoietin receptor. Keiran MW, Perkins AC, Orkin SH and Zon LI. PNAS 93; 9126-9131 (1996) IF=9.4 Cit=128 (GS 168)
  47. Silencing of human fetal-globin expression is impaired in the absence of the adult b-globin gene activator protein, EKLF. Perkins AC, Gaensler KML, Orkin, SH. PNAS 93; 12267-12271 (1996). IF=9.4 Cit=117 (GS 142)
  48. Isolation and characterization of the cDNA encoding BKLF/TEF-2, a major CACCC-box binding protein in erythroid cells and selected other cells. Crossley MP, Whitelaw E, Perkins AC, Williams G, Fujiwara Y, Orkin SH. Mol. Cell. Biol. 16 (4); 1695-1705 (1996). IF 4.2 Cit=182 (GS 214)
  49. Lethal beta-thalassemia in mice lacking the erythroid CACCC-transcription factor EKLF. Perkins AC, Sharp AH, Orkin SH. Nature 375; 318-322 (1995). IF=38.1 Cit=455 (GS 565)
  50. Conditional immortalization of mouse myelomonocytic, megakaryocytic and mast cell progenitors by the Hox-2.4 homeobox gene. Perkins AC, Cory S. EMBO J 12; 3835-3846 (1993). IF=9.6 Cit=90 (GS 100)
  51. Homeobox gene expression plus autocrine growth factor production elicits myeloid leukemia. Perkins AC, Kongsuwan K, Visvader J, Adams JM, Cory S. PNAS 87; 8398-8402 (1990). IF 9.4 Cit=172 (GS 163)

Research Interests

  • Embryonic stem cell differentiation
    Embryonic stem cells (ES cells) are immortal pluripotent cells capable of contributing to all adult cell types, including germ cells, when introduced into the blastocyst of a developing mouse. The group is interested in harnessing this fantastic potential to eventually produce adult-type lineage-restricted stem cells in a tissue culture dish, then use them for repair and regeneration of damaged or genetically defective adult organs, particularly the kidney and bone marrow. The group's expertise resides in ES cell differentiation techniques and the development of functional assays of stem cells. There are strong collaborative links with The Renal Research Consortium (RRC), a network of Australian scientists dedicated to the utilization of stem cell and bioinformatics strategies for the repair or regeneration of damaged adult kidneys. There is also a strong collaborative link and access to human ES cell lines via the National Stem Cell Centre.
  • Globin gene regulation
    Billions of red cells are produced every day. Their main function is to carry oxygen from the lungs to sites of need in the body, and they do this through the haemoglobin molecule, a tetramer of two alpha-globin-like chains and two beta-globin-like chains. The makeup of the haemoglobin molecule changes throughout development as expression of different alpha-like and beta-like globin genes change. The five beta-like globin genes are co-located on chromosome 11. They are expressed in the same order developmentally as they are physically positioned within the locus. There are hundreds of known mutations in the beta-globin locus and many have a high prevalence in certain communities. For example, the sickle cell mutation results in sickle cell disease (SCD), which is a serious debilitating chronic illness in people of African descent. Beta-thalassaemia (major), also known as Cooley's anaemia, is also a severe disease with dependence on regular blood transfusions from early life. This dependence carries the risk of infection from blood-born viruses and from the complications for iron overload. Ironically, patients with SCD and beta-thalassaemia undergo a developmental switch from production of a normal fetal globin molecule to production of a defective beta-globin molecule (in the case of SCD), or failed production of any beta-globin molecule (in the case of beta-thalassaemia major). If we could understand how this switch is programmed then it might be possible to design drugs to reactive the fetal globin gene. We know from rare cases where this happens naturally (HPFH mutations), and from mouse models of human haemoglobin switching that expression of fetal haemoglobin to modest levels will result in a great improvement in the health of patients with SCD and b-thalassaemia.
  • Zebrafish mesoderm patterning and blood programming
    We are interested in the role of transcription factors of the zinc finger and homeobox classes in mesoderm and particularly blood programming in zebrafish. We generate �gene knockdowns' in vivo using specific morpholinos and RNAi approaches. Phenotypes are analyzed by whole mount in situ hybridization, immuno-histochemistry and indirect immuno-fluorescence. Facilities for live embryo transplantations, caged fluorophore activation, and expression profiling are established. The IMB has a 800 tank system (based on Aquatic Habitats tanks) including separate quarantine and fry raring facilities. The plant room and facility was built locally by BenErin Pty. Ltd. It is available to service the needs of the IMB and outside research groups in Queensland and is supported by the SRC in Functional and Applied Genomics.
  • Blood Cancer Genomics
    We develop and employ next generation sequencing platforms for diagnosis and prognosis in blood cancers. These are provided via a NATA-accredited pathology provider (Mater Pathology). The service is used by oncologists in Queensland and interstate.
  • Kruppel like factor networks in organogenesis and differentiation
    We work on how the family of master control genes called Kruppel-like factors (KLFs) interpret the DNA code to direct gene expression. We study how specific mutations in the DNA-binding domains corrupt the DNA binding code and how this causes disease


  • Fellow Royal College of Pathologists Australasia
  • Fellow Royal Australasian College of Physicians
  • Doctor of Philosophy, University of Melbourne
  • Bachelor of Medicine and Bachelor of Surg (Hons), The University of Sydney


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Available Projects

  • We are interested in how mutations in the KLF1 transcription factor causes congenital dyserythropoietic anemia. We emply mouse models, cell lines, CRISPR gene editing, RNA-seq and ChIP-seq as well as clinical genomics to approach this question.This work is funded by the NHMRC.

  • We employ CRISPR gene editing technologies to repair mutations in human CD34 stem cells and cell lines to try to correct human blood cell diseases

  • We are interested in finding new mutations in the JAK-STAT pathway cause myeloproliferative diseases. We use clinical genomics platforms to find such mutations in referred patient samples and as part of our role in the MPN01 national registry. We are looking for direct targets of JAK-STAT signaling to develop new biomarkers of disease activity. We are involved in large international clinical trials of JAK inhibitors.

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Journal Article

Conference Publication

Grants (Administered at UQ)

PhD and MPhil Supervision

Current Supervision

  • Doctor Philosophy — Principal Advisor

  • Doctor Philosophy — Principal Advisor

  • Doctor Philosophy — Associate Advisor

    Other advisors:

Completed Supervision

Possible Research Projects

Note for students: The possible research projects listed on this page may not be comprehensive or up to date. Always feel free to contact the staff for more information, and also with your own research ideas.

  • We are interested in how mutations in the KLF1 transcription factor causes congenital dyserythropoietic anemia. We emply mouse models, cell lines, CRISPR gene editing, RNA-seq and ChIP-seq as well as clinical genomics to approach this question.This work is funded by the NHMRC.

  • We employ CRISPR gene editing technologies to repair mutations in human CD34 stem cells and cell lines to try to correct human blood cell diseases

  • We are interested in finding new mutations in the JAK-STAT pathway cause myeloproliferative diseases. We use clinical genomics platforms to find such mutations in referred patient samples and as part of our role in the MPN01 national registry. We are looking for direct targets of JAK-STAT signaling to develop new biomarkers of disease activity. We are involved in large international clinical trials of JAK inhibitors.

  • We are interested in how teh KLF family of transcription factors bind DNA and how epigenetic changes influence this binding. We harness this knowledge to improve reprograming strategies underpinned by KLFs.This work is funded by the ARC.

  • We use mouse and zebraifsh models to study how transcritpion factors control organogenesis and differentiation. We are trying to dissect how transcription factors work in feed forward and feed back genetic loops.

  • We are interested in the genetics and cell biology of blood stem cell generation and self renewal. This work has been led by a recessive ENU screen in mice which has found important new putative regulators of HSC formation.