Christina Pacak, PhD


Child Health Research Institute

Academic Title

Assistant Professor

Contact Information



  • Postdoctoral Research Fellow, Boston Children’s Hospital and Harvard Medical School
  • Ph.D., University of Florida College of Medicine
  • B.S., The Ohio State University

Research Overview

Our primary focus is to develop adeno-associated virus (AAV) mediated gene therapy and mitochondrial transplantation therapy to treat disorders that affect mitochondrial function. The lab has deep expertise in the use of various serotypes of AAV combined with tissue specific promoters to achieve robust transgene expression for the treatment of genetic disorders1-10. We are particularly interested in developing treatments for the following two genetic diseases:

1) Barth Syndrome – an X-linked mitochondrial disease that causes cardiomyopathy, neutropenia, muscle weakness, growth delay and exercise intolerance. The underlying problem is a mutation in the tafazzin gene which causes a decrease in cardiolipin synthesis.

2) Cockayne Syndrome – a multi-system autosomal recessive disorder characterized by growth failure, nervous system impairment, photosensitivity, eye abnormalities, liver dysfunction, and a variety of other symptoms caused by premature aging. A defect in transcription-coupled DNA repair and its consequences in the repair of mtDNA contribute to the pathophysiology of this disease.

Additionally, recent collaborative work demonstrated that ischemia reperfusion injury can be prevented by injecting mitochondria isolated from healthy unaffected tissue into a heart model of regional cardiac ischemia11, 12. The hearts that received mitochondria displayed a significant decrease in apoptosis and infarct size as well as an increase in regional function as compared to controls. Based upon these exciting results we are now developing the same concept of mitochondrial transplantation therapy to ameliorate mitochondrial impairment in neuronal cells caused by cerebral hypoxia in newborns.

To perform this work, our laboratory uses a wide variety of basic molecular biology techniques as well as imaging, physiological tests and electrophysiological assessments. If you have any questions or are interested in joining our team, please email Dr. Pacak.


Dr. Pacak first became interested in research while completing her undergraduate honors research thesis project in Dr. Mark Seeger’s CNS development laboratory at Ohio State University. After graduation, she was introduced to AAV while working as a vector laboratory technician for Dr. Reed Clark and Dr. Phillip Johnson at Nationwide Children’s Hospital in Columbus, Ohio. This experience inspired her to pursue graduate studies in an AAV laboratory. She earned her Ph.D. in 2006 from the University of Florida Interdisciplinary Program in Biomedical Sciences under the mentorship of Dr. Barry J. Byrne. Her thesis focused on the development of AAV-mediated gene delivery for heart and skeletal muscle. She then completed a postdoctoral research fellowship at Boston Children’s Hospital and Harvard Medical School under the mentorship of Dr. Douglas B. Cowan where she worked on developing a biological replacement for pacemakers in children with atrioventricular block using muscle-derived cardiac progenitor cells. In early 2014 Dr. Pacak returned to UF as an assistant professor in the Department of Pediatrics.

Lab Team

  • Amy L. Donate, Ph.D. – Postdoctoral Associate
  • Katherine Cheney – Undergraduate
  • Skylar Rizzo – Undergraduate


  1. Byrne BJ, Falk DJ, Pacak CA, Nayak S, Herzog RW, Elder ME, Collins SW, Conlon TJ, Clement N, Cleaver BD, Cloutier DA, Porvasnik SL, Islam S, Elmallah MK, Martin A, Smith BK, Fuller DD, Lawson LA, Mah CS. Pompe disease gene therapy. Human molecular genetics. 2011;20:R61-68
  2. Foust KD, Poirier A, Pacak CA, Mandel RJ, Flotte TR. Neonatal intraperitoneal or intravenous injections of recombinant adeno-associated virus type 8 transduce dorsal root ganglia and lower motor neurons. Human gene therapy. 2008;19:61-70
  3. Mah C, Cresawn KO, Fraites TJ, Jr., Pacak CA, Lewis MA, Zolotukhin I, Byrne BJ. Sustained correction of glycogen storage disease type ii using adeno-associated virus serotype 1 vectors. Gene therapy. 2005;12:1405-1409
  4. Mah C, Pacak CA, Cresawn KO, Deruisseau LR, Germain S, Lewis MA, Cloutier DA, Fuller DD, Byrne BJ. Physiological correction of pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors. Molecular therapy : the journal of the American Society of Gene Therapy. 2007;15:501-507
  5. Pacak CA, Byrne BJ. AAV vectors for cardiac gene transfer: Experimental tools and clinical opportunities. Molecular therapy : the journal of the American Society of Gene Therapy. 2011;19:1582-1590
  6. Pacak CA, Conlon T, Mah CS, Byrne BJ. Relative persistence of aav serotype 1 vector genomes in dystrophic muscle. Genetic vaccines and therapy. 2008;6:14
  7. Pacak CA, Mah CS, Thattaliyath BD, Conlon TJ, Lewis MA, Cloutier DE, Zolotukhin I, Tarantal AF, Byrne BJ. Recombinant adeno-associated virus serotype 9 leads to preferential cardiac transduction in vivo. Circulation research. 2006;99:e3-9
  8. Pacak CA, Sakai Y, Thattaliyath BD, Mah CS, Byrne BJ. Tissue specific promoters improve specificity of aav9 mediated transgene expression following intra-vascular gene delivery in neonatal mice. Genetic vaccines and therapy. 2008;6:13
  9. Pacak CA, Walter GA, Gaidosh G, Bryant N, Lewis MA, Germain S, Mah CS, Campbell KP, Byrne BJ. Long-term skeletal muscle protection after gene transfer in a mouse model of LGMD-2D. Molecular therapy : the journal of the American Society of Gene Therapy. 2007;15:1775-1781
  10. Schnepp BC, Clark KR, Klemanski DL, Pacak CA, Johnson PR. Genetic fate of recombinant adeno-associated virus vector genomes in muscle. Journal of virology. 2003;77:3495-3504
  11. Masuzawa A, Black KM, Pacak CA, Ericsson M, Barnett RJ, Drumm C, Seth P, Bloch DB, Levitsky S, Cowan DB, McCully JD. Transplantation of autologously derived mitochondria protects the heart from ischemia-reperfusion injury. American journal of physiology. Heart and circulatory physiology. 2013;304:H966-982
  12. McCully JD, Cowan DB, Pacak CA, Toumpoulis IK, Dayalan H, Levitsky S. Injection of isolated mitochondria during early reperfusion for cardioprotection. American journal of physiology. Heart and circulatory physiology. 2009;296:H94-H105