Skip to content Skip to navigation

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

Feb 25 2019 | Posted In: 20/20 Blog
Palo Alto, CA —The Mahajan Lab in Stanford University’s Department of Ophthalmology is one of four 2018 recipients of the Stanford Alliance for Innovative Medicines (AIM) Grant.
Feb 13 2019 | Posted In: 20/20 Blog
Palo Alto, CA — Byers Eye Institute was recently selected to join the Foundation Fighting Blindness Consortium (FFB).
Feb 4 2019 | Posted In: 20/20 Blog
Palo Alto, CA — How can physicians and scientists make clinical trials faster, cheaper, and more likely to succeed? The answer may be proteomic analysis.
Dec 14 2018 | Posted In: 20/20 Blog
Palo Alto, CA — Why volunteer for a clinical trial? The rigorous process of turning a new therapy into the standard of care depends on patient volunteers. 
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.

Publications

CRISPR-Mediated Ophthalmic Genome Surgery, Cho, Galaxy Y., Abdulla Yazeed, Sengillo Jesse D., Justus Sally, Schaefer Kellie A., Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Current ophthalmology reports, Volume 5, p.199–206, (2017)
CRISPR-Cas Genome Surgery in Ophthalmology, DiCarlo, James E., Sengillo Jesse D., Justus Sally, Cabral Thiago, Tsang Stephen H., and Mahajan Vinit B. , Translational vision science & technology, Volume 6, p.13–13, (2017)
Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging, Cabral, Thiago, Sengillo Jesse D., Duong Jimmy K., Justus Sally, Boudreault Katherine, Schuerch Kaspar, Belfort Rubens, Mahajan Vinit B., Sparrow Janet R., and Tsang Stephen H. , Scientific reports, Volume 7, Number 1, p.10347, (2017)
Unexpected mutations after CRISPR-Cas9 editing in vivo, Schaefer, Kellie A., Wu Wen-Hsuan, Colgan Diana F., Tsang Stephen H., Bassuk Alexander G., and Mahajan Vinit B. , Nature methods, Volume 14, Number 6, p.547–548, (2017)
Precision medicine: genetic repair of retinitis pigmentosa in patient-derived stem cells, Bassuk, Alexander G., Zheng Andrew, Li Yao, Tsang Stephen H., and Mahajan Vinit B. , Scientific reports, Volume 6, p.19969, (2016)
CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model, Wert, Katherine J., Bassuk Alexander G., Wu Wen-Hsuan, Gakhar Lokesh, Coglan Diana, Mahajan Maryann, Wu Shu, Yang Jing, Lin Chyuan-Sheng, Tsang Stephen H., et al. , Human molecular genetics, Volume 24, Number 16, p.4584–4598, (2015)