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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

May 14 2013 | Posted In: 20/20 Blog
Our laboratory has identified the CAPN5 gene as the cause of ADNIV, an inherited autoimmune disease of the eye. This landmark discovery represents the first identified gene that causes uveitis - a blinding inflammation within the eyes. The condition is also characterized by abnormal...
Jun 17 2012 | Posted In: 20/20 Blog
We received grant support from the Fight for Sight organization to study an inherited form of inherited retinal detachment. In this family, children develop severe retinal detachments. Our genetic analysis suggests that a novel gene variant may be the cause, and efforts to identify the variant are...
Jun 21 2011 | Posted In: 20/20 Blog, Press
Researchers have found the existence of a new, rare inherited retinal disease. Now the search is on to find the genetic cause, which investigators hope will increase understanding of more common retinal diseases. The findings appeared in the Nov. 9 issue of the Archives of Ophthalmology. The macula...
| Posted In: 20/20 Blog
In collaboration with Alexander Bassuk, M.D., Ph.D., we identified in new gene variation that causes Knobloch Syndrome.

Publications

A novel RPGR mutation masquerading as Stargardt disease., Bassuk, Alexander G., Sujirakul Tharikarn, Tsang Stephen H., and Mahajan Vinit B. , Br J Ophthalmol, 2014 Jan 31, (2014)
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina., Wert, Katherine J., Skeie Jessica M., Bassuk Alexander G., Olivier Alicia K., Tsang Stephen H., and Mahajan Vinit B. , Hum Mol Genet, 2014 Jan 12, (2014)
Mutations in Extracellular Matrix Genes NID1 and LAMC1 Cause Autosomal Dominant Dandy-Walker Malformation and Occipital Cephaloceles., Darbro, Benjamin W., Mahajan Vinit B., Gakhar Lokesh, Skeie Jessica M., Campbell Elizabeth, Wu Shu, Bing Xinyu, Millen Kathleen J., Dobyns William B., Kessler John A., et al. , Hum Mutat, 2013 May 14, (2013)
Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes., White, Jacqueline K., Gerdin Anna-Karin, Karp Natasha A., Ryder Ed, Buljan Marija, Bussell James N., Salisbury Jennifer, Clare Simon, Ingham Neil J., Podrini Christine, et al. , Cell, 2013 Jul 18, Volume 154, Issue 2, p.452-64, (2013)
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)
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)