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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

Oct 27 2018 | Posted In: 20/20 Blog
Chicago, IL — At the American Academy of Ophthalmology meeting, Stanford ophthalmologist, Vinit Mahajan M.D., Ph.D., presented a poster detailing results on the relationship between specific patient mutations and clinical outcomes in the first FDA approved gene therapy trial in humans.
Jul 31 2018 | Posted In: 20/20 Blog
Park City, UT — Every summer for the past sixty-one years, the American Eye Study Club (AESC) has brought together ophthalmologists from across the country to share their expertise.
Jul 12 2018 | Posted In: 20/20 Blog
Palo Alto, CA — Dr. Vinit Mahajan and Dr.
Jun 28 2018 | Posted In: 20/20 Blog
Cold Spring Harbor, NY —Marcus Toral, an M.D., Ph.D.
Mar 16 2018 | Posted In: 20/20 Blog
Novel CAPN5 mutation associated with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
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Publications

Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity, Liu, Katherine Y., Sengillo Jesse D., Velez Gabriel, Jauregui Ruben, Sakai Lynn Y., Maumenee Irene H., Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Orphanet journal of rare diseases, Volume 13, p.138, (2018)
HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1, Lin, Michael K., Yang Jin, Hsu Chun Wei, Gore Anuradha, Bassuk Alexander G., Brown Lewis M., Colligan Ryan, Sengillo Jess D., Mahajan Vinit B., and Tsang Stephen H. , Aging Cell, 05/2018, (2018)
Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases., Xu, Christine L., Cho Galaxy Y., Sengillo Jesse D., Park Karen S., Mahajan Vinit B., and Tsang Stephen H. , Front Cell Dev Biol, 2018, Volume 6, p.46, (2018)
Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia, Toral, Marcus A., Velez Gabriel, Boudreault Katherine, Schaefer Kellie A., Xu Yu, Saffra Norman, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Molecular genetics & genomic medicine, Volume 5, p.202–209, (2017)
Calpain-5 gene expression in the mouse eye and brain, Schaefer, Kellie, Mahajan Maryann, Gore Anuradha, Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , BMC research notes, Volume 10, Number 1, p.602, (2017)
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors, Yang, Jin, Bassuk Alexander G., Merl-Pham Juliane, Hsu Chun-Wei, Colgan Diana F., Li Xiaorong, Au Kit Sing, Zhang Lijuan, Smemo Scott, Justus Sally, et al. , Human molecular genetics, Volume 25, Number 19, p.4201–4210, (2016)
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