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Gene Therapy Lab

Gene therapy can modify mutations in genes or deliver an extra, healthy copy of an allele to treat inherited forms of blindness. Dr. Mahajan was a surgeon in the recent trial for gene therapy using a viral vector that successfully rescued vision loss in patients with Leber Congenital Amaurosis. The development of pre-clinical models to test gene therapy approaches for other forms of blindness, as well as testing gene therapy treatments in these pre-clinical animal models, is necessary and important to lead to clinical trials for human patients.

We are treating human patient stem cells and translational animal models with gene therapy approaches. We are also developing animal models for various inherited retinal degenerative diseases by introducing human genes or human mutations into the animals.

Pluripotent stem cells are made in the lab from patient volunteers with retinal degenerations. We then use gene editing (CRISPR) to correct the patient mutations in their own cells. Our lab was the first to correct a human blindness gene in human stem cells. These gene-corrected cells can then be used to test therapies and create transplants that replace diseased retinas.

Projects

Fixing faulty genes.
Direct modification of DNA in living cells.
Gene therapy correction in pre-clinical models of retinal disease.

News

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., assistant professor and Vice Chair for Research in Ophthalm
Oct 14 2019 | Posted In: 20/20 Blog
Palo Alto, CA – Dry macular degeneration is a common eye condition that usually occurs in people over 50. It is characterized by blurring of the central vision along with a decreased ability to see colors and fine details.
Sep 16 2019 | Posted In: 20/20 Blog
Palo Alto, CA – The Molecular Surgery Program in Stanford’s Ophthalmology Department held the first Bay Area Genetic Retinal Disease Case Conference at the 
May 31 2019 | Posted In: 20/20 Blog
Palo Alto, CA – What is myopic degeneration?
May 15 2019 | Posted In: 20/20 Blog
Palo Alto, CA – What is genetic testing?

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)
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)
Autologous stem cell therapy for inherited and acquired retinal disease, Apatoff, Mary Ben L., Sengillo Jesse D., White Eugenia C., Bakhoum Mathieu F., Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Regenerative medicine, (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)
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients, Sengillo, Jesse D., Cabral Thiago, Schuerch Kaspar, Duong Jimmy, Lee Winston, Boudreault Katherine, Xu Yu, Justus Sally, Sparrow Janet R., Mahajan Vinit B., et al. , Scientific reports, Volume 7, Number 1, p.11170, (2017)
Gene Therapy Restores Mfrp and Corrects Axial Eye Length, Velez, Gabriel, Tsang Stephen H., Tsai Yi-Ting, Hsu Chun-Wei, Gore Anuradha, Abdelhakim Aliaa H., Mahajan Maryann, Silverman Ronald H., Sparrow Janet R., Bassuk Alexander G., et al. , Scientific reports, Volume 7, p.16151, (2017)