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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 12 2018 | Posted In: 20/20 Blog
Palo Alto, CA — Dr. Vinit Mahajan and Dr.
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.
Apr 22 2016 | Posted In: 20/20 Blog
A new pre-clinical mouse model to study blindness caused by diabetes.
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...

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)
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)
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)
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)
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)
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)