PHA Proof of Concept Research Grant Winner 2013

Kylie Drake

Kylie M. Drake, PhD

Lerner Research Institute
The Cleveland Clinic Foundation, Cleveland
Title: "Pharmacological Correction of BMP Signaling by Read-Through in Pulmonary Arterial Hypertension"
Term: December 1, 2013 through November 30, 2014

This Proof of Concept award is made possible through a generous donation from Ms. Betty Lou Wojciechowski in honor of her late husband, Mr. Jerry Wojciechowski.

Summary of Research Project:

Despite recent advances, therapies for PH have only demonstrated modest clinical improvements in patients. In particular, patients with heritable PH due to BMPR2 mutations are less likely to respond to some treatments. The ideal therapy for PH would not only ameliorate symptoms, but also drive the reversal of pathological features such as vascular remodeling and vasoconstriction in patient lungs. Dr. Drake will assess the effectiveness of ataluren as a therapeutic molecule for the sizeable subset of PH patients with a BMPR2 mutation. This study is highly novel in that it seeks to target the underlying genetic defect in heritable pulmonary hypertension. Dr. Drake's preliminary work suggests that this project will herald an exciting new era in which PH treatment is personalized to specific genetic causes.


Curriculum Vitae

NAME: Kylie M. Drake, PhD
POSITION TITLE: Research Associate, Lerner Research Institute, The Cleveland Clinic Foundation


Institution/Location Degree Year(s) Field of Study
University of Otago, Dunedin, NZ PhD 2007 Cancer Genetics
University of Otago, Dunedin, NZ BSc (Hons) I 2000 Microbiology



  1. Hyink O, Dellow RA, Olsen MJ, Caradoc-Davies KM, Drake KM, Herniou EA, Cory JS, O’Reilly DR, Ward VK. Whole genome analysis of the Epiphyas postvittana nucleopolyhedrovirus. J Gen Virol 2002, 83:957-71 
  2. Drake KM, Ruteshouser EC, Natrajan R, Harbor P, Wegert J, Gessler M, Pritchard-Jones K, Grundy P, Dome J, Huff V, Jones C, Aldred MA (2009). Loss of heterozygosity at 2q37 in sporadic Wilms tumor: a putative role for miR-562. Clin. Cancer Res. 15: 5985–5992.
  3. Drake KM, Zygmunt D, Mavrakis L, Harbor P, Wang L, Comhair SA, Erzurum SC, Aldred MA (2011). Altered microRNA Processing in Heritable Pulmonary Arterial Hypertension: an Important Role for Smad-8. Am J Respir Crit Care Med. 184: 1400-1408.
  4. Drake KM, Dunmore BJ, McNelly LN, Morrell NW, Aldred MA (2013). Correction of nonsense BMPR2 and SMAD9 mutations by Ataluren in Pulmonary Arterial Hypertension. Am J Respir Cell Mol Biol, in press. 
  5. Dunmore BJ, Drake KM, Upton PD, Toshner MR, Aldred MA, Morrell NW (2013). The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations. Hum Mol Genet, in press. 


  • BMW Cure Kids Research Fellowship for Leukaemia, Child Health Research Foundation of New Zealand, 2002
  • Cancer Society of New Zealand Training Scholarship, 2002
  • Marjorie McCallum Travel Award, University of Otago, 2003
  • Functional Genomics, Gene Expression and Proteomics Theme support for young scientists award, University of Otago, 2003
  • Head of Department award for excellence, Department of Biochemistry, University of Otago, 2003
  • Leukaemia and Blood Foundation of New Zealand Travel Award, 2005.American Thoracic Society Travel Award, 2010
  • Jane Morse Award, Assembly of Pulmonary Circulation, American Thoracic Society, 2010
  • Research Day Award: Respiratory Institute, Cleveland Clinic, 2010
  • Pulmonary Hypertension Association Travel Award, American Thoracic Society, 2011


  • Queenstown Molecular Biology Society, 2002 - Present
  • American Association of Cancer Research, 2005 - Present
  • Lerner Research Institute Diversity Council, 2007 - Present
  • The American Society of Human Genetics, 2008 - Present
  • American Thoracic Society, 2010 - Present

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