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 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.
Edited stem cells offer hope of precision therapy for blindness Findings raise the possibility of treating blinding eye diseases using a patient's own corrected cells as replacement tissue UNIVERSITY OF IOWA HEALTH CARE

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)
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)
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)