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Dr. Mahajan is a Professor and vitreoretinal surgeon and scientist in the Department of Ophthalmology at Stanford University. He directs the NIH-funded Molecular Surgery and Omics Laboratory that uses high-throughput methods in genomics, proteomics, and phenomics to identify molecules involved in vitreoretinal disease. His research team discovered the first gene to cause non syndromic uveitis and is now using protein crystallography to design therapeutic inhibitors for calpain-5. Mahajan and his team performed the first CRISPR gene editing therapy for eye disease in human stem cells. They have also created in vivo models for diabetic retinopathy and uveitis. Using translational proteomics, Mahajan’s multidisciplinary team is developing new precision health approaches using molecular biomarkers to diagnose retinal disease, select personalized therapies, and decode the anatomic structures of the human eye. Dr. Mahajan has trained numerous surgical fellows that now operate around the world. He has developed enhanced surgeries for complex cases of retinal detachment, macular hole, macular edema, diabetes, macular degeneration, proliferative vitreoretinopathy, optic maculopathy, uveitis, and others. He has identified safer approaches for vitreoretinal surgery in children and adults, and provides second opinions for complex cases. Dr. Mahajan is among only a handful of surgeons to perform human gene therapy for retinal disease. He has published new surgical biomarker studies that are the first to use personalized proteomics to precisely diagnose and treat otherwise problematic retinal diseases.Dr. Mahajan earned his bachelor’s degree in Molecular and Cell Biology at the University of California, Berkeley. He then entered the Medical Scientist Training Program at the University of California, Irvine. Upon completion, he joined the residency program at the Jules Stein Eye Institute at the University of California, Los Angeles. At UCLA he completed post doctoral laboratory research as an EyeSTAR Fellow. He next specialized in vitreoretinal diseases and surgery at the University of Iowa’s Retina Fellowship Program and joined as faculty in 2008. He joined Stanford University in 2017.
Our focus is the development of personalized medicine for eye diseases through translation of our discoveries in proteomics, genomics, and phenomics in humans, mice and tissue culture models.My laboratory team is composed of scientists, surgeons, engineers, and students who are dedicated to curing blindness. We use high-throughput technologies (proteomics, genomics, phenomics) to identify candidate disease molecules. These are validated using biochemistry, tissue culture, and animal models. The findings are then directly translated into personalized medical therapies in humans. Major projects include: 1. Protein crystallography of Calpain-5 and its signaling mechanisms in the retina. 2. Proteomics of vitreoretinal disease. 3. Genome-wide knockout screen of mouse eye phenotypes. 4. CRISPR gene therapy for eye disease.We identified CAPN5 as the first gene to cause uveitis. The gene encodes the calcium-activated cysteine protease. We are investigating the structure-function effects of mutations on its crystal structure and enzymatic activity, structure, function within photoreceptor cells, and activation of intracellular signaling pathways. We also conduct clinical and human genetic studies into the etiology and therapy of autoimmune eye disease. Our unique access to human surgical eye tissues allowed us to map the human proteome in normal and diseased eyes with vitreoretinal conditions. We have identified major enzymatic pathways associated with diseases such as age-related macular degeneration, diabetic retinopathy, and autoimmunity. Specific molecules have been validated in mice and in cultured cells.In partnership with the Sanger Institute, we are conducting a high-throughput phenotype screen in genetically modified mice. We have identified numerous genes that cause eye diseases in mice and their human correlates. The strategic integration of this genotype-phenotype platform provides excellent projects for mechanistic investigations. Using mouse models of eye disease and human stem cells, we are exploring the application of CRISPR to treat blinding conditions. The laboratory allows highly motivated individuals to be creative in an immersive, interactive environment intensely focused on the restoration of sight. Please contact us to learn more.
Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically
and genetically heterogeneous group of disorders in which there is progressive loss of rod
and later cone photoreceptor function leading to severe visual impairment. RP usually occurs
as an isolated retinal disorder, but it may also be seen in association with systemic
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GTSCOPE - To Evaluate the Natural Progression of Dry Age-related Macular Degeneration (AMD)
An observational study to evaluate the natural progression of dry AMD in genetically defined
National Eye Institute Biorepository for Retinal Diseases
- To understand diseases of the retina and the eye, information is needed about people with
and without such diseases. Researchers want to study these people and follow them over time.
They also want to study body tissues and blood to understand the nature of eye disease.
Studying genes, cells, and tissues may help them understand why some people get eye problems
and others do not, or why some people respond to treatment while others do not. Researchers
want to collect physical samples and personal data to develop a National Eye Institute
- To collect health information and blood and tissue samples from people with and without eye
diseases, to be used in research studies.
- Individuals of any age with different types of eye disease.
- Healthy volunteers with no history of eye disease.
- Participants may be recruited from National Eye Institute studies or may be referred
from other sources.
- Participants will be screened with a physical exam and medical history. They will also
have a full eye exam. Questions will be asked about family medical history, especially
about eye disease.
- Blood samples will be collected. Other samples, such as saliva, tears, hair, stool, and
urine, may be collected as needed. Adult participants may also provide a skin sample.
- Tissue or fluid from eye collected as part of eye care or treatment may also be added to
- No treatment will be provided as part of this study.
HORIZON: A Phase II Study to Evaluate the Safety and Efficacy of Two Doses of GT005
The purpose of this clinical study is to evaluate the safety and efficacy of two doses of
GT005 administered as a single subretinal injection in subjects with geographic atrophy
secondary to age-related macular degeneration (AMD).
EXPLORE: A Phase II Study to Evaluate the Safety and Efficacy of Two Doses of GT005