Dwight Stambolian's Lab

Research

Principal Investigator:

Dwight Stambolian, M.D., Ph.D.
Associate Professor, Dept of Ophthalmology and Human Genetics

Education:

University of Pennsylvania: PhD (Genetics) 1983.
Downstate Medical Center: MD 1976.

Research Interests:

Laboratory focuses on gene discovery of complex and monogenic disorders

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.