Dwight Stambolian, MD, PhD
Associate Professor, Dept of Ophthalmology and Human Genetics

Gene Therapy and Vaccines Program

Address

Rm. 313 Stellar-Chance Labs
422 Curie Boulevard
Philadelphia, PA 19104-6069

Office tel.: 215 898-0305
Lab tel.: 215 898-9838
Fax: 215 573-6728
E-mail: stamboli@mail.med.upenn.edu


Education

University of Pennsylvania: PhD (Genetics), 1983.

Downstate Medical Center: MD, 1976.

Research Interests

• Laboratory focuses on gene discovery of complex and monogenic disorders.

Key words: Fun Lab, Bioinformatics galore, espirit de corps, collegial atmosphere, challenging projects, molecular genetics.

Search PubMed for articles

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. We have recently discovered a unique locus for common myopia on chromosome 22 in the Jewish population. The Amish also have a few unique loci for myopia identified on the GWS. 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 Tcm eye.

Common techniques in the lab include bioinformatics, DNA cloning, PCR, agarose gel electrophoresis, in situ hybridization, DNA sequencing and library screening.

Recent Publications

Ibay G, Doan B, Reider L, Dana D, Schlifka M, Hu H, Holmes T, O'Neill J, Owens R, Ciner E, Bailey-Wilson JE, Stambolian D. Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia. BMC Med Genet. 2004 Aug 03;5(1):20.

Stambolian D, Ibay G, Reider L, Dana D, Moy C, Schlifka M, Holmes T, Ciner E, Bailey-Wilson JE. Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet. 2004 Sep;75(3):448-59.

Huang KM, Geunes-Boyer S, Wu S, Dutra A, Favor J, Stambolian D. Organization and annotation of the Xcat critical region: elimination of seven positional candidate genes. Genomics. 2004 May;83(5):893-901.

Yu J, Farjo R, MacNee SP, Baehr W, Stambolian DE, Swaroop A. Annotation and analysis of 10,000 expressed sequence tags from developing mouse eye and adult retina. Genome Biol. 2003;4(10):R65.

Heath S, Robledo R, Beggs W, Feola G, Parodo C, Rinaldi A, Contu L, Dana D, Stambolian D, Siniscalco M. Anovel approach to search for identity by descent in small samples of patients and controls from the same mendelian breeding unit: a pilot study on myopia. Hum Hered. 2001;52(4):183-90.

Lab

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