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Human Genetics

Stephanie Ware, MD, PhD

Stephanie M. Ware, MD, PhD

Appointment

Assistant Professor, University of Cincinnati College of Medicine

Email

stephanie.ware@cchmc.org

Phone

513-636-9427

Fax

513-636-5958

Credentials

MD: University of Cincinnati College of Medicine, Cincinnati, OH, 1997.

PhD: University of Cincinnati College of Medicine, Cincinnati, OH, 1995.

BS: Butler University, Indianapolis, IN, 1989.

Position History

  • 1991-1995 Graduate Assistant, University of Cincinnati and Children's Hospital Medical Center, Cincinnati, OH.
    Doctoral advisor: Jeffrey Robbins.
    Thesis: In vivo regulation of the mouse β-myosin heavy chain gene.
  • 1997-2000 Pediatric Resident, Baylor College of Medicine, Houston, TX
  • 2000-2002 Clinical Fellow in Genetics, Baylor College of Medicine, Houston, TX
  • 2002-2004 Postdoctoral fellow; Clinical Assistant Professor, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
  • 2004-present Assistant Professor, Pediatrics, Division of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center

Awards and Honors

  • McGraw-Hill Scholastic Award (top two students in medical school class), University of Cincinnati College of Medicine, 1991
  • Marion-Merrill Dow Scholar, University of Cincinnati College of Medicine, 1991-1994
  • Alpha Omega Alpha, University of Cincinnati College of Medicine, 1996
  • Krucker Merit Scholarship, University of Cincinnati College of Medicine, 1997-1989
  • Travel Award Winner, Society for Inherited Metabolic Disorders, 2001
  • Vivian L. Smith Foundation Fellow in Genetics, Baylor College of Medicine, 2000-2002
  • Weinstein Cardiovascular Development Conference, Young Investigator Award, 2003
  • Pediatric Academic Societies' Young Investigator's Travel Award, 2005
  • Society for Pediatric Research Richard D. Rowe Award in Perinatal Cardiology, Honorable Mention Research, 2005
  • Society for Pediatric Research, elected member, 2006

Research

For details of research in the Ware Lab please visit the Ware Lab web site.

Research Grants and Contracts

Current Support

NIH RO1 HL088639 - PI: Stephanie Ware, MD, PhD 4/1/2007-3/31/2012. Role of the embryonic node in cardiac development and congenital heart disease.

Trustee Award, Cincinnati Children's Hospital Medical Center - PI: Stephanie Ware, MD, PhD 7/1/07-6/30/09. Control of Morphogenetic Movements during Gastrulation.

Children’s Cardiomyopathy Foundation PI: Stephanie Ware, MD, PhD  4/1/2008-3/31/2009   Development of a novel resequencing chip to diagnose pediatric cardiomyopathy.

CCHMC Translational Research Initiative Award  PI: Stephanie Ware, MD, PhD   7/1/08-6/30/09            Novel Diagnostics for Familial/Metabolic Cardiomyopathy

March of Dimes Research Foundation 5-FY2007-1142 - PI: Stephanie Ware, MD, PhD 6/1/07-5/31/10. Left right patterning defects and cardiac morphogenesis. (declined due to overlap)

Trainee Support

American Heart Association AHA 0725539B - PI: James Bedard; Sponsor: Stephanie Ware, MD, PhD 7/1/07-6/30/09. Genetic and Molecular Roles of a Novel ZIC3 Isoform in Cardiovascular Development. Postdoctoral fellowship, Great Rivers Affiliate

American Heart Association AHA 0725562B - PI: Shuyun Wang; Sponsor: Stephanie Ware, MD, PhD 7/1/07-6/30/09. Determination of Cardiac Looping: Role of Zic3 at the node. Postdoctoral fellowship, Great Rivers Affiliate

Publications, Most Recent

Purandare, S. *, Ware, S.M. *, Kwan KM, Gebbia, M, Bassi MT, Deng JM, Vogel, H, Behringer RR, Belmont JW, Casey B. A complex syndrome of left right axis, central nervous system and axial skeleton defects in Zic3 mutant mice.Development 129: 2293-2302, 2002

Ware SM and Belmont JW. ZIC3, CFC1, ACVR2B and EBAF and the Visceral Heterotaxies. In Epstein C, Erickson RP and Wynshaw-Boris A eds, Molecular Basis of Inborn Errors of Development (Oxford University Press), 2004.

Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.American Journal of Human Genetics 74: 93-105, 2004.

Elefteriou F, Takeda S, Ebihara, K, Magre J,Patano N, Ae Kim C, Ogawa Y, Liu X, Ware SM, Craigen WJ, Robert JJ, Vinson, C, Nakao K, Capeau J, Karsenty G. Serum leptin level is a regulator of bone mass.Proceedings of the National Academy of Sciences of the United States of America 101: 3258-3263, 2004.

Belmont JW, Mohapatra B, Towbin JA, Ware, SM. Molecular genetics of heterotaxy syndromes.Current Opinion in Cardiology 19(3): 216-20, 2004.

Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Bowles KR, Hunter J, Fernbach SD, Vladutiu G, Wong L-JC, Vogel H. Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients with Mitochondrial Disease.Pediatrics 114: 925-931, 2004.

Jeffries JL, Belmont JW, Craigen WJ, Ware SM, Fernbach SD, Neish SR, O'Brien Smith E, Towbin JA. Genetic Predictors and Reverse Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy.Circulation 112: 2799-2804, 2005.

Zhu, L, Belmont JW, Ware SM. Genetics of Human Heterotaxias.European Journal of Human Genetics 14: 17-25, 2006.

Chen, C*, Ware, SM*, Sato A, Houston-Hawkins, DE, Habas, R, Matzuk, MM, Shen, MM, Brown, CW. The Vg1-related protein GDF3 acts in a Nodal signaling pathway in the pre-gastrulation mouse embryo.Development 133: 319-329, 2006. *co-first authors.

Ware, SM, Harutyunyan, KG, Belmont, JW. Zic3 is critical for early embryonic patterning during gastrulation.Developmental Dynamics 235: 776-785, 2006.

Ware, SM, Harutyunyan, KG, Belmont, JW. Heart defects in X linked heterotaxy: evidence for a genetic interaction of Zic3 with the Nodal signaling pathway.Developmental Dynamics 235:1631-1637, 2006.

Ware, SM. DNA mutation analysis in heterotaxy.Methods Mol Med 126:247-56, 2006.

Bedard, JEJ, Purnell, JD, Ware, SM. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3.Human Molecular Genetics 16: 187-198, 2007.

Ware S.M. *, Quinn M., Ballard E.T., Miller E., Uzark K.,Spicer R.L. Pediatric restrictive cardiomyopathy associated with a mutation in b-myosin heavy chain. Clinical Genetics 73: 165-170, 2008. * corresponding author

Wang S., Ware S.M. Use of FOXJ1CreER2T mice for inducible deletion of embryonic node gene expression. (in press, genesis).

Professional Organization Memberships

  • Fellow of the American Academy of Pediatrics
  • American Society of Human Genetics
  • Certification by the American Board of Pediatrics (2000-2007); Re-certification (2007-2014)
  • Diplomate of the American Board of Medical Genetics in Clinical Genetics (2002-2012)

Books

Ware S.M. and Belmont J.W. ZIC3, CFC1, ACVR2B and EBAF and the Visceral Heterotaxies. In Epstein C.J., Erickson R.P. and Wynshaw-Boris A. eds, Inborn Errors of Development: the molecular basis of clinical disorders of morphogenesis (Oxford University Press, New York), 2004.

Ware S.M. Molecular diagnostics in X-linked heterotaxy. In Kearns-Jonker M. ed, Congenital heart disease: Molecular diagnostics (Humana Press Inc., Totowa, New Jersey), pp. 247-256, 2006.

Ware S.M. and Belmont J.W. ZIC3, CFC1, ACVR2B and EBAF and the Visceral Heterotaxies. In Epstein C.J., Erickson R.P. and Wynshaw-Boris A. eds, Inborn Errors of Development: the molecular basis of clinical disorders of morphogenesis, 2nd edition (Oxford University Press, New York), 2008.

Villar A.J., Ware S.M. Developmental Origins of the Mammalian Body Plan. In Epstein C.J., Erickson R.P. and Wynshaw-Boris A. eds, Inborn Errors of Development: the molecular basis of clinical disorders of morphogenesis, 2nd edition (Oxford University Press, New York), 2008.

Bedard J.E.J., Wang S., Ware S.M. Structure-function analyses of the ZIC family of zinc finger transcription factors. Yoshidi, K. ed, Focus on Zinc Finger Protein Research (in press, 2008).

Related Areas

This person works in these other areas at Cincinnati Children's Hospital Medical Center: