Dwight E. Stambolian, MD, PhD
Associate Professor of Ophthalmology
Full Member, Institute for Human Gene Therapy, University of Pennsylvania School of Medicine
Associate Professor, Department of Genetics, University of Pennsylvania School of Medicine
Department: Ophthalmology
Contact information
Rm. 313 Stellar-Chance Labs
422 Curie Boulevard
Philadelphia, PA 19104-6069
422 Curie Boulevard
Philadelphia, PA 19104-6069
Office: 215 898-0305
Fax: 215 573-6728
Fax: 215 573-6728
Email:
stamboli@mail.med.upenn.edu
stamboli@mail.med.upenn.edu
Graduate Group Affiliations
Publications
Education:
BA
Lycoming College, Williamsport, PA, 1971.
M.D.
S.U.N.Y. Downstate at Syracuse, 1976.
Ph.D. (Genetics)
University of Pennsylvania, 1983.
BA
Lycoming College, Williamsport, PA, 1971.
M.D.
S.U.N.Y. Downstate at Syracuse, 1976.
Ph.D. (Genetics)
University of Pennsylvania, 1983.
Post-Graduate Training
Intern in Medicine, Long Island Jewish Hospital, New Hyde Park, NY, 1976-1977.
Postdoctoral Trainee in Anatomy, University of Pennsylvania, 1977-1978.
NIH Posdoctoral Fellowship, Institute of Neurological Science, University of pennsylvania, 1978-1981.
Research Fellow in Anatomy, University of Pennsylvania, 1980-1983.
Resident in Ophthalmology, University of Pennsylvania School of Medcine, 1983-1986.
Fellowship, Clinical and Molecular Genetics, University of Pennsylvania, Department of Human Genetics and Children's Hospital of Philadelphia, 1986-1988.
Intern in Medicine, Long Island Jewish Hospital, New Hyde Park, NY, 1976-1977.
Postdoctoral Trainee in Anatomy, University of Pennsylvania, 1977-1978.
NIH Posdoctoral Fellowship, Institute of Neurological Science, University of pennsylvania, 1978-1981.
Research Fellow in Anatomy, University of Pennsylvania, 1980-1983.
Resident in Ophthalmology, University of Pennsylvania School of Medcine, 1983-1986.
Fellowship, Clinical and Molecular Genetics, University of Pennsylvania, Department of Human Genetics and Children's Hospital of Philadelphia, 1986-1988.
Certifications
American Board of Ophthalmology, 1988.
American Board of Medical Genetics, Board Eligible, 1988.
Permanent linkAmerican Board of Ophthalmology, 1988.
American Board of Medical Genetics, Board Eligible, 1988.
Description of Research Expertise
Research InterestsLaboratory focuses on gene discovery of complex and monogenic disorders.
Key words: Fun Lab, Bioinformatics galore, espirit de corps, collegial atmosphere, challenging projects, molecular genetics.
Description of Research
Projects include searching for the genes for myopia, age related macula degeneration(AMD), Nance Horan Syndrome and Tcm. The myopia and AMD projects are a large scale population based study involving the identification of Amish and Orthodox Jewish families followed by gene mapping and candidate gene identification. Nance Horan Syndrome is an X-linked disorder which causes eye and dental abnormalities. We have identified a very small region of the X chromosome which contains the gene and are screening the DNA sequence for possible mutations. Tcm is a mouse mutant which has hydrocephalus and microphthalmia. We have identified a region in the mouse genome which contains the gene and are screening the DNA sequence for mutations. We are also doing in situ hybridization with many genes involved with dorsal ventral patterning to identify the developmental defect in the eye.
Common techniques in the lab include bioinformatics, DNA cloning, PCR, agarose gel electrophoresis, in situ hybridization, DNA sequencing and library screening.
Rotation Projects for 2006-2007
1. Screen a cDNA library.
2. Mutation analysis of candidate genes for myopia, AMD or Nance Horan.
Lab personnel:
David Brooks, MD, PhD
Kristen Huang, PhD
Melissa Schlifka, M.S.
Chris Moy, M.A., M..S.
Ken Wang, graduate student
Debra Dana
Jinhua Wu
Selected Publications
Brooks, D.G., Manova-Todorova, K., Farmer, J., Lobmayr, L., Wilson, R.B., Eagle, R.C., St. Pierre, T.G.and Stambolian, D.: Ferritin crystallization causes cataract in hereditary hyperferritinemia cataract syndrome. Invest. Ophthalmol. Vis. Sci. 43: 1121-26, 2002.Sidjanin, D.J., Parker-Wilson, D.M., Neuhauser-Klaus, A., Petsch, W., Favor, J., Deen, P.M., Ohtaka-Maruyama, C., Lu, Y., Bragin, A., Skach, W.R., Chepelinsky, A.B., Grimes, P.A. and Stambolian, D.E.: A 76-bp deletion in the Mip gene causes autosomal dominant cataract in Hfi mice. Genomics 74: 313-9, 2001.
Ai, Y., Zheng, Z., O'Brien-Jenkins, A., Bernard, D.J., Wynshaw-Boris, T., Ning, C., Reynolds, R., Segal, S., Huang, K. and Stambolian, D.: A mouse model of galactose induced cataracts. Hum. Mol. Genet. 9: 1821-7, 2000.
