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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

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.
Feb 26 2017 | Posted In: 20/20 Blog, Press
New vision-affecting gene mutation discovered in the gene SLC38A8.

Publications

CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa: A Brief Methodology, Wu, Wen-Hsuan, Tsai Yi-Ting, Justus Sally, Cho Galaxy Y., Sengillo Jesse D., Xu Yu, Cabral Thiago, Lin Chyuan-Sheng, Bassuk Alexander G., Mahajan Vinit B., et al. , Retinal Gene Therapy, p.191–205, (2018)
Quantitative progression of retinitis pigmentosa by optical coherence tomography angiography, Jauregui, Ruben, Park Karen Sophia, Duong Jimmy K., Mahajan Vinit B., and Tsang Stephen H. , Scientific reports, Volume 8, p.13130, (2018)
Extracellular superoxide dismutase 3 (SOD3) regulates oxidative stress at the vitreoretinal interface, Wert, Katherine J., Velez Gabriel, Cross Madeline R., Wagner Brett A., Teoh-Fitzgerald Melissa L., Buettner Garry R., McAnany Jason, Olivier Alicia, Tsang Stephen H., Harper Matthew M., et al. , Free Radical Biology and Medicine, (2018)
A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay, Velez, Gabriel, Bassuk Alexander G., Schaefer Kellie A., Brooks Brian, Gakhar Lokesh, Mahajan Maryann, Kahn Philip, Tsang Stephen H., Ferguson Polly J., and Mahajan Vinit B. , Molecular Case Studies, p.mcs–a002519, (2018)
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)