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Cecilia W. Lo, PhD, FAHA

  • Distinguished Professor and F. Sargent Cheever Chair of Developmental Biology

Executive Assistant: Heather Norris

Cecilia Lo is currently professor and chair of the Department of Developmental Biology at the University of Pittsburgh School of Medicine. She received her BS degree from the Massachusetts Institute of Technology, and her PhD from the Rockefeller University, followed by postdoctoral training at Harvard Medical School. Her faculty career began at the University of Pennsylvania where she rose through the ranks from Assistant to full Professor, where she also was Chair of the Biology Graduate Program. In 2001, she relocated to become the Chief of the Laboratory of Developmental Biology in the intramural research program of the National Heart Lung and Blood Institute (NHLBI) in the National Institute of Health (NIH) in Bethesda, MD. In 2004, she was further appointed as Director of the Genetics and Developmental Biology Center of NHLBI at NIH. In 2009, she relocated to Pittsburgh, where she became the founding Chair and Professor of the newly formed Department of Developmental Biology, and where she currently also holds the F Sargent Cheever Chair. She is Executive Director of the Integrative Systems Biology graduate program, a highly successful new graduate program she founded in 2014 at the University of Pittsburgh,

Lo’s research interest has focused on investigating the developmental and genetic mechanisms of congenital heart disease. Her group conducted the first large scale mouse forward genetic screen with cardiovascular phenotyping conducted using noninvasive fetal echocardiography, and mutation recovery was achieved with state of the art whole mouse exome sequencing analysis. These studies have led to several landmark publications in Nature, Nature Genetics and Circulation that together provided unexpected insights into the genetic landscape of congenital heart disease. Inspired by insights gained from the mouse forward genetic screen, her group has been pursuing a parallel line of clinical investigations to elucidate the genetic etiology of human congenital heart disease, having already recruited over 700 congenital heart disease patients with a wide spectrum of cardiac lesions. Using this patient cohort and insights gained from the mouse findings, her group has been conducting clinical translational studies in collaboration with the UPMC Children’s Hospital of Pittsburgh cardiothoracic surgeons, pediatric cardiologists, pulmonologists, cardiac intensivists, and neuro-radiologists, to investigate the mechanisms driving the postsurgical pulmonary complications, progression to heart failure, and poor neurodevelopmental outcome observed among congenital heart disease patients. This unique integration of basic and clinical translational research has revealed new insights for novel therapeutic interventions that may substantively improve the postsurgical outcome and long term prognosis for patients with congenital heart disease.

Education & Training

  • BS, Biology, Massachusetts Institute of Technology, 1974
  • PhD, Cell and Developmental Biology, Rockefeller University, 1979
  • Postdoctoral Fellowship, Molecular Genetics, Harvard Medical School, 1979-1980

Selected Publications

Tan SY, Rosenthal J, Zhao XQ, Francis RJ, Chatterjee B, Sabol SL, Linask KL, Bracero L, Connelly PS, Daniels MP, Yu Q, Omran H, Leatherbury L, Lo CW. Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. J Clin Invest. 2007 Dec;117(12):3742-52. 

Nakhleh N, Francis R, Giese RA, Tian X, Li Y, Zariwala MA, Yagi H, Khalifa O, Kureshi S, Chatterjee B, Sabol SL, Swisher M, Connelly PS, Daniels MP, Srinivasan A, Kuehl K, Kravitz N, Burns K, Sami I, Omran H, Barmada M, Olivier K, Chawla KK, Leigh M, Jonas R, Knowles M, Leatherbury L, Lo CW. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation. 2012 May 8;125(18):2232-42. 

Li Y, Klena NT, Gabriel GC, Liu X, Kim AJ, Lemke K, Chen Y, Chatterjee B, Devine W, Damerla RR, Chang C, Yagi H, San Agustin JT, Thahir M, Anderton S, Lawhead C, Vescovi A, Pratt H, Morgan J, Haynes L, Smith CL, Eppig JT, Reinholdt L, Francis R, Leatherbury L, Ganapathiraju MK, Tobita K, Pazour GJ, Lo CW. Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 521: 520-524.(2015). 

Liu, X., Yagi, H. Saeed, S., Bais, A.S., Gabriel, C., Chen, Z., Peterson, K.A., Li,Y., Schwartz, M.C., Reynolds, W.T., Saydmohammed, M., Gibbs, B., Wu, Y., Devine, W., Chatterjee, B., Klena, N.T., Kostka, D., Nikolai T. de Mesy Bentley, K.L., Ganapathiraju, M.K., Dexheimer, P., Leatherbury, L., Khalifa, O., Bhagat, A., Zahid, M., Pu, W., Watkins, S., Grossfeld, P., Muray, S., Porter Jr, G.A., Tsang, M., Martin, L.J., Benson, D.W., Aronow, B.J., Lo, C.W. The complex genetics of hypoplastic left heart syndrome.  Nature Genetics.  49:1152-1159 (2017).

Jin, S.C., J. Homsy, S. Zaidi, Q. Lu, S. Morton, S.R. DePalma, X. Zeng, H. Qi, W. Chang, M.C. Sierant, ……….C.W. Lo, Y. Shen, W.S. Watkins, M. Yandell, H.J. Yost, M. Tristani-Firouzi, J.W. Newburger, A.E. Roberts, R. Kim, H. Zhao, J.R. Kaltman, E. Goldmuntz, W.K. Chung, J.G. Seidman, B.D. Gelb, C.E. Seidman, R.P. Lifton, and M. Brueckner, Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 49(11): 1593-1601 (2017).

Stewart, E., Adam, PS, Tian, X., Khalifa, O., Wearden, P., Zahid, M., and Lo, C.W. Airway ciliary dysfunction: association with adverse postoperative outcomes in non-heterotaxy congenital heart disease patients. J. Thorac Cardiovasc Surg.  155:755-763.e7 (2018).

Prins BP, Mead TJ, Brody JA, Sveinbjornsson G, Ntalla I, Bihlmeyer NA, van den Berg M, Bork-Jensen J, Cappellani S, Van Duijvenboden S, Klena NT, Gabriel GC, Liu X, Gulec C, Grarup N, Haessler J, Hall LM, ….Arking DE, Lo CW, Jamshidi Y.  Exome-chip meta-analysis identifies novel loci, including ADAMTS6 associated with cardiac conduction. Genome Biology. 2018 Jul 17;19(1):87. doi: 10.1186/s13059-018-1457-6

Kong, J.H.Young, C.B., Pusapati, G.V., Patel, C., Ho, S., Krishnan, A., Lin, J.H.I., Devine, W.,     de Bellaing, A.M., Athni, T.S., Aravind, L., Gunn, T.M., Lo, C.W., and Rohatgi, R. 2020. A ubiquitin-based mechanism for the oligogenic inheritance of heterotaxy and heart defects.  Developmental Cell. 55:1-18.

Adams, P.S., Corcoran, T.E., Lin, Jiuann-Huey, Weiner, D., Sanchez-de-Toledo, J., Lo, C.W. 2021. Mucociliary clearance scan show infants undergoing congenital cardiac surgery have poor airway clearance function. Frontiers in Cardiovascular Medicine. Vol 8:652158

Teekakirikul, P. Zhu, W. Gabriel, G.C., Young, C.B., Williams, K., Martin, L.J., Hill, H.C., Richards, T., Billaud, M., Phillipi, J.A., Wang, J., Wu, J., Tan, T., Devine, W., Lin, J.H., Bais, A.S., Klonowski, J., Bellaing, A.M., ........Kochilas, L., He, Y., Garg, V., White, P., McBride, K.L., Benson, D.W., Gleason, T.G., Mktal, S., Lo, C.W. 2021. Common Deletion Variants Causing Protocadherin-a Deficiency Contribute to the Complex Genetics of Bicuspid Aortic Valve and Left-sided Congenital Heart Disease.  Human Genetics and Genomic Advances. In press.   

Academic and Research Interests

  • Congenital heart disease
  • Genetics
  • Genomics
  • Epigenetics
  • Induced pluripotent stem cells
  • Birth defects
  • Developmental biology
  • Cilia biology
  • Respiratory airway clearance
  • Metabolic disease
  • Heart failure