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Research to Prevent Blindness

An RPB Awardee Tackles Inherited Retinal Diseases

Dr. Krzysztof Palczewski develops and applies cutting-edge gene editing techniques to challenging genetic conditions.

Many inherited diseases—across all areas of the body—are caused by gene mutations that are passed down from generation to generation as part of a person’s DNA. For many years, researchers have sought a way to “correct” gene mutations via genome editing (also called gene editing), which is the process of changing an organism’s DNA by adding, removing, or altering DNA at particular locations.

Dr. Palczewski and lab members

Dr. Krzysztof  Palczewski and his lab members Elliot Choi and Susie Suh pioneered new gene editing techniques for inherited retinal diseases. 

 CRISPR-Cas9 is a relatively new technology that was developed to allow researchers to correct DNA at precise locations. The technique uses a short guide ribonucleic acid (gRNA) and a specific enzyme (the Cas9 enzyme connected with deaminase or reserve transcriptase). This novel technology was developed from the parental CRISPR-Cas9 system (called “genetic scissors” by some) that sparked a revolution in the scientific community; the two researchers who developed it won the Nobel Prize in Chemistry in 2020.

The technology, while groundbreaking, is not perfect. It has the potential to introduce new DNA mutations during the “cut” and repair process and may have low gene-editing efficiency in real-world use. It would be beneficial to have a technology that has “safety” parameters built in, to avoid off-target effects.

In 2020, Krzysztof Palczewski, PhD, Donald Bren Professor, Irving H. Leopold Chair of Ophthalmology, and Distinguished Professor at the University of California, Irvine, School of Medicine and former long-term member of the RPB Scientific Advisory Panel, received an RPB Stein Innovation Award to advance a new generation of CRISPR gene editing technology, referred to as base editing, as a therapeutic approach for Leber congenital amaurosis (LCA), the most common cause of inherited retinal degeneration in children, which results in early visual impairment. Base editing is a new and innovative alternative for correcting gene mutations that overcomes the limitations of CRISPR-Cas9 mentioned above by developing an engineered Cas9 protein that can install a precise mutation and uses a delivery vehicle that can transfer a protein or messenger RNA to restrict its duration of action for enhanced safety.

If successful, the approach will provide a new avenue of therapeutic intervention for LCA and will likely extend to other genetic abnormalities of the eye, and perhaps other areas of the body. Dr. Palczewski’s work in this area was published in Cell, Nature Biomedical Engineering, PNAS, and Nature Communications, highly respected and ranked scientific journals, in 2021-2022.

“It is our belief, that with some further development, base editing will provide a new paradigm for the treatment of numerous inherited ocular diseases caused by different modes of inheritance,” said Dr. Palczewski in a press release put out by the University of California, Irvine. “If scientists align behind this approach, there is a chance that in 10 years, all inherited retinal diseases could be treatable.”

RPB is proud to support this exciting and field-changing work with an RPB Stein Innovation Award.

Dr. Palczewski will be speaking at an upcoming virtual event, the RPB Lunch & Learn: Eye on Retinitis Pigmentosa, on Wednesday, September 14, 2022 from 1pm – 2pm EDT. Retinitis Pigmentosa is an inherited retinal disorder that could benefit from the research that Dr. Palczewski has pioneered. To register to view this online event live (or to receive a copy of the video after the event), email events@rpbusa.org with “RP RSVP” in the subject line.

Related News: Feature Story, For the Media, Retina Disorders , Top Story

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