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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

Sep 30 2021 | Posted In: 20/20 Blog
 
Jul 6 2021 | Posted In: 20/20 Blog
Palo Alto, CA – As genetic testing and molecular biomarkers open new avenues for medical care, researchers are more reliant on samples from human subjects than ever.
Jun 15 2021 | Posted In: 20/20 Blog
Palo Alto, CA — A study by the Mahajan Lab, in close collaboration with Rajesh Rao’s lab at the University of Michigan, helps improve our understanding of vitreoretinal lymphomas (VRLs) and demonstrates how liquid vitreous biopsies c
May 6 2021 | Posted In: 20/20 Blog
Palo Alto, CA — Most people today, including many physicians, see the hypodermic needle as a mundane instrument that isn’t worth a second thought. This is not so for eye surgeons.
Apr 5 2021 | Posted In: 20/20 Blog
Palo Alto, CA — Interrupted patient care during the COVID-19 pandemic has been seen across the medical field with dire consequences. In ophthalmology, interrupted care can result in vision loss. 

Publications

Genetics of Uveitis., Cunningham, Emmett T., Pichi Francesco, Mahajan Vinit B., Rosenbaum James T., and Zierhut Manfred , Ocul Immunol Inflamm, 2021 Feb 17, Volume 29, Issue 2, p.215-218, (2021)
Telegenetics for inherited retinal diseases in the COVID-19 environment., Al-Moujahed, Ahmad, Kumar Aarushi, Chemudupati Teja, Tsang Stephen H., and Mahajan Vinit B. , Int J Retina Vitreous, 2021 Mar 29, Volume 7, Issue 1, p.25, (2021)
Whole-Exome Sequencing of Patients with Posterior Segment Uveitis., Li, Angela S., Velez Gabriel, Darbro Benjamin, Toral Marcus A., Yang Jing, Tsang Stephen H., Ferguson Polly J., Folk James C., Bassuk Alexander G., and Mahajan Vinit B. , Am J Ophthalmol, 2020 Jul 21, (2020)
Quantitative Autofluorescence Following Gene Therapy With Voretigene Neparvovec., Levi, Sarah R., Oh Jin Kyun, de Carvalho Jose Ronaldo Li, Mahajan Vinit B., Tsang Stephen H., and Sparrow Janet R. , JAMA Ophthalmol, 2020 Jun 18, (2020)
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy., Oh, Jin Kyun, Ryu Joseph, de Carvalho Jose Ronaldo Li, Levi Sarah R., Lee Winston, Tsamis Emmanouil, Greenstein Vivienne C., Mahajan Vinit B., Allikmets Rando, and Tsang Stephen H. , Am J Ophthalmol, 2020 May 20, (2020)
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results., Cho, Ahra, de Carvalho Jose Ronaldo Li, Tanaka Akemi J., Jauregui Ruben, Levi Sarah R., Bassuk Alexander G., Mahajan Vinit B., and Tsang Stephen H. , Orphanet J Rare Dis, 2020 Jan 30, Volume 15, Issue 1, p.32, (2020)