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Genomics Lab

We are using next-generation DNA-sequencing technologies to analyze whole genomes, in addition to the more traditional whole exome approach, in order to identify the underlying genetic cause to disease. The information gained from these high throughput techniques allows us to better diagnose patients as well as more accurately develop animal models.

In population genetic studies, we also genomics technologies to identify risk factors for eye diseases. We are mapping genes for uveitis, macular dystrophies, and retinal degenerations. Other projects include understanding gene expression patterns during retinal development, corneal inflammation, squamous cell carcinoma, and in specialized eye tissues such as the retinal pigment epithelium and ciliary body.

Projects

Predicting the effects of disease mutations using structural bioinformatics.

News

| Posted In: 20/20 Blog
In collaboration with Alexander Bassuk, M.D., Ph.D., we identified in new gene variation that causes Knobloch Syndrome.
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Publications

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration., Mahajan, Vinit B., Skeie Jessica M., Bassuk Alexander G., Fingert John H., Braun Terry A., Daggett Heather T., Folk James C., Sheffield Val C., and Stone Edwin M. , PLoS Genet, 2012, Volume 8, Issue 10, p.e1003001, (2012)
Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy., Rowell, Hannah A., Bassuk Alexander G., and Mahajan Vinit B. , Clin Ophthalmol, 2012, Volume 6, p.2037-44, (2012)
Mutations in prickle orthologs cause seizures in flies, mice, and humans., Tao, Hirotaka, J Manak Robert, Sowers Levi, Mei Xue, Kiyonari Hiroshi, Abe Takaya, Dahdaleh Nader S., Yang Tian, Wu Shu, Chen Shan, et al. , American journal of human genetics, 2011 Feb 11, Volume 88, Issue 2, p.138-49, (2011)
Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia., Mahajan, Vinit B., Olney Ann Haskins, Garrett Penny, Chary Ajit, Dragan Ecaterina, Lerner Gary, Murray Jeffrey, and Bassuk Alexander G. , American journal of medical genetics. Part A, 2010 Nov, Volume 152A, Issue 11, p.2875-9, (2010)
Estrogen receptor alpha and matrix metalloproteinase 2 polymorphisms and age-related maculopathy in older women., Seitzman, Robin L., Mahajan Vinit B., Mangione Carol, Cauley Jane A., Ensrud Kristine E., Stone Katie L., Cummings Steven R., Hochberg Marc C., Hillier Teresa A., Sinsheimer Janet S., et al. , American journal of epidemiology, 2008 May 15, Volume 167, Issue 10, p.1217-25, (2008)
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness., Tsang, Stephen H., Woodruff Michael L., Jun Lin, Mahajan Vinit, Yamashita Clyde K., Pedersen Robert, Lin Chyuan-Sheng, Goff Stephen P., Rosenberg Thomas, Larsen Michael, et al. , Human mutation, 2007 Mar, Volume 28, Issue 3, p.243-54, (2007)
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