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Research Strategies

 

Delaying Cone Death in Retinitis Pigmentosa


There are two types of photoreceptors: rods (responsible for vision at low light levels) and cones (responsible for vision at higher light levels, as well as fine visual detail and color vision). Dr. Punzo’s research is focused on establishing a gene therapy to delay cone death in Retinitis pigmentosa. This work is based on the fact that deletion of the tumor suppressor gene tuberous sclerosis complex protein 1 (TSC1) in cones results in sustained cone survival over time in mouse models of Retinitis pigmentosa. With this knowledge in mind they are trying to identify genes downstream of TSC1 that when overexpressed promote cone survival in Retinitis pigmentosa, with the goals of identifying suitable targets for gene therapy.

 

Retinitis Pigmentosa

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Retinitis Pigmentosa Investigators

Hemant Khanna, PhD

Hemant Khanna, PhD

Associate Professor, Department of Ophthalmology & Visual Sciences

Khanna Lab

Claudio Punzo, PhD

Claudio Punzo, PhD

Associate Professor, Department of Ophthalmology, Neurobiology and Horae Gene Therapy Center

Punzo Lab

Clinical Trials

At the Li Weibo Institute for Rare Diseases Research, our researchers and clinicians are dedicated to finding new treatment options for patients. Our clinical trials program is another way we continue to advance treatments and make new discoveries. If you or someone you know may be interested in a clinical trial, please subscribe for updates and you will be notified when we open up a new trial.

 

Research That Gives Hope