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

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 27 2018 | Posted In: 20/20 Blog
Palo Alto, CA — Robert MacLaren, Professor of Ophthalmology at University of Oxford and Fellow of Merton College, gave the inaugural lecture for the Molecular Surgery Program’s Special Grand Rounds. 
Nov 23 2017 | Posted In: 20/20 Blog
Adeno-associated viral (AAV) gene therapy restores axial eye length in a mouse model for nanophthalmos.
Apr 22 2016 | Posted In: 20/20 Blog
A new pre-clinical mouse model to study blindness caused by diabetes.

Publications

CAPN5 gene silencing by short hairpin RNA interference, Nelson, Nnamdi G., Skeie Jessica M., Muradov Hakim, Rowell Hannah A., Seo Seongjin, and Mahajan Vinit B. , BMC research notes, Volume 7, p.642, (2014)
Silencing of tuberin enhances photoreceptor survival and function in a preclinical model of retinitis pigmentosa (an american ophthalmological society thesis), Tsang, Stephen H., Chan Lawrence, Tsai Yi-Ting, Wu Wen-Hsuan, Hsu Chun-Wei, Yang Jin, Tosi Joaquin, Wert Katherine J., Davis Richard J., and Mahajan Vinit B. , Transactions of the American Ophthalmological Society, Volume 112, p.103, (2014)
Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina., Wert, Katherine J., Skeie Jessica M., Bassuk Alexander G., Olivier Alicia K., Tsang Stephen H., and Mahajan Vinit B. , Hum Mol Genet, 2014 Jan 12, (2014)
Subretinal injection of gene therapy vectors and stem cells in the perinatal mouse eye, Wert, Katherine J., Skeie Jessica M., Davis Richard J., Tsang Stephen H., and Mahajan Vinit B. , Journal of visualized experiments: JoVE, (2012)
Microarray analysis of corneal fibroblast gene expression after interleukin-1 treatment., Mahajan, Vinit B., Wei Cui, and McDonnell Peter J. , Investigative ophthalmology & visual science, 2002 Jul, Volume 43, Issue 7, p.2143-51, (2002)