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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

Sep 30 2021 | Posted In: 20/20 Blog
 
Jun 15 2021 | Posted In: 20/20 Blog
Palo Alto, CA — A study by the Mahajan Lab, in close collaboration with Rajesh Rao’s lab at the University of Michigan, helps improve our understanding of vitreoretinal lymphomas (VRLs) and demonstrates how liquid vitreous biopsies c
Jun 11 2020 | Posted In: 20/20 Blog, Press
Palo Alto, CA — Despite progressively losing his vision to a genetic retinal degenerative disease, Michael Stone, an athlete and small business owner, is active, optimistic, and determined.
Apr 20 2020 | Posted In: 20/20 Blog
Palo Alto, CA — Is there something to feed retinal cells that can give them the energy to withstand gene mutations that make them sick?
Oct 16 2019 | Posted In: 20/20 Blog
Palo Alto, CA — A gene therapy clinical trial for Dry Age Related Macular Degeneration (AMD) is beginning at the Byers Eye Institute under the direction of Vinit Mahajan M.D., Ph.D., associate professor and Vice Chair for Research in Ophthalm

Publications

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family., Vaclavik, Veronika, Tiab Leila, Sun Young Joo, Mahajan Vinit B., Moulin Alexandre, Allaman-Pillet Nathalie, Munier Francis L., and Schorderet Daniel F. , Invest Ophthalmol Vis Sci, 2022 Mar 02, Volume 63, Issue 3, p.23, (2022)
Genetics of Uveitis., Cunningham, Emmett T., Pichi Francesco, Mahajan Vinit B., Rosenbaum James T., and Zierhut Manfred , Ocul Immunol Inflamm, 2021 Feb 17, Volume 29, Issue 2, p.215-218, (2021)
Telegenetics for inherited retinal diseases in the COVID-19 environment., Al-Moujahed, Ahmad, Kumar Aarushi, Chemudupati Teja, Tsang Stephen H., and Mahajan Vinit B. , Int J Retina Vitreous, 2021 Mar 29, Volume 7, Issue 1, p.25, (2021)
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results., Cho, Ahra, de Carvalho Jose Ronaldo Li, Tanaka Akemi J., Jauregui Ruben, Levi Sarah R., Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Orphanet J Rare Dis, 2020 Jan 30, Volume 15, Issue 1, p.32, (2020)
Whole-Exome Sequencing of Patients with Posterior Segment Uveitis., Li, Angela S., Velez Gabriel, Darbro Benjamin, Toral Marcus A., Yang Jing, Tsang Stephen H., Ferguson Polly J., Folk James C., Bassuk Alexander G., and Mahajan Vinit B. , Am J Ophthalmol, 2020 Jul 21, (2020)
Phenotypic variance in Calpain-5 retinal degeneration., Tang, Peter H., Chemudupati Teja, Wert Katherine J., Folk James C., Mahajan Maryann, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Am J Ophthalmol Case Rep, 2020 Jun, Volume 18, p.100627, (2020)