A potential precision medicine approach for treating vision loss
Columbia University Medical Center (CUMC) and University of Iowa scientists have used a new gene-editing technology called CRISPR to repair a genetic mutation responsible for retinitis pigmentosa (RP), an inherited condition that causes the retina to degrade and leads to blindness in at least 1.5 million cases worldwide.
The study was published in Scientific Reports, and marks the first time researchers have replaced a defective gene associated with a sensory disease in stem cells that were derived from a patient’s tissue.
“Our vision is to develop a personalized approach to treating eye disease,” says Stephen Tsang, MD, PhD, the László Z. Bitó Associate Professor of Ophthalmology and associate professor of Pathology & Cell Biology at CUMC, ophthalmologist at NewYork-Presbyterian/Columbia, and one of the study’s senior authors. “We still have some way to go, but we believe that the first therapeutic use of CRISPR will be to treat an eye disease. Here we have demonstrated that the initial steps are feasible.”
In the study, the researchers created stem cells from a sample of skin that was taken from a patient with retinitis pigmentosa. As the patient-derived stem cells still harbored the disease-causing mutation, the teams used CRISPR to repair the defective gene. The stem cells can potentially be transformed into healthy retinal cells and transplanted back into the same patient to treat vision loss.
“The X-linked form of retinitis pigmentosa is an ideal candidate for a precision medicine approach because a common mutation accounts for 90% cases,” Tsang explains. Using CRISPR —which is easily adaptable to diverse sequences of DNA, and allows for fast and accurate editing —scientists can take a patient’s own cells and make pinpoint repairs specific to that individual’s genome.
Because the corrections are made in cells derived from the patient’s own tissue, doctors can re-transplant the cells with fewer fears of rejection by the immune system. Previous clinical trials have shown that generating retinal cells from embryonic stem cells and using them for transplantation is a safe and potentially effective procedure.
In this paper, the researchers targeted one of the most common variants of retinitis pigmentosa, which is caused by a single mistake in a gene called RGPR. The composition of RGPR—which contains many repeats and tight-binding nucleotide pairs—make it a difficult gene to edit. The researchers say that preliminary success with RGPR is therefore promising for treating other forms of the condition caused by mutations in other genes.
The current treatment for retinitis pigmentosa recommended by the National Institutes of Health—consuming high doses of vitamin A—slows down vision loss but does not cure the disease.
Other types of gene therapies for are currently undergoing clinical trials. Unlike CRISPR-based methods, these therapies introduce stretches of DNA that supplement some of the activity of the defective gene, but do not directly correct the original mutation. Follow-up studies have shown that any gains in vision from these gene supplementation therapies wane over time.
A CRISPR-driven precision medicine approach to treating retinitis pigmentosa may improve upon current therapies and restore a patient’s vision because CRISPR, with its pinpoint accuracy, can correct the fundamental genetic defect responsible for the disease. However, CRISPR technology has not yet been approved for use in humans.
Read more: CRISPR Used to Repair Blindness-causing Genetic Defect in Patient-derived Stem Cells
The Latest on: Retinitis pigmentosa
[google_news title=”” keyword=”retinitis pigmentosa” num_posts=”10″ blurb_length=”0″ show_thumb=”left”]
via Google News
The Latest on: Retinitis pigmentosa
- Retinitis Pigmentosa News, Research and Latest Updateson June 6, 2023 at 4:59 pm
Keep abreast with the latest news related to Retinitis Pigmentosa there are 13 news items on Retinitis Pigmentosa that covers updates, breakthroughs and in-depth reports. We provide you with a ...
- Study provides data to support gene supplementation as a treatment for autosomal dominant retinitis pigmentosaon June 6, 2023 at 12:03 am
A new study shows that total RPE65 protein levels in mice with autosomal dominant retinitis pigmentosa were doubled following subretinal delivery of adeno-associated virus (AAV)-RPE65 gene ...
- Retinitis Pigmentosa: Genetics and Gene-Based Approaches to Therapyon June 5, 2023 at 5:00 pm
Significant advances have been made in the understanding of the genetics of retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of disorders; and over 50 genes underlying ...
- Retinitis Pigmentosa Market is expected to hit USD 20.47 Bn by 2029 at a CAGR of 7.8 percent – says Maximize Market Researchon June 4, 2023 at 6:09 am
The report is a combination of primary data and secondary data and domain experts have analyzed the Retinitis Pigmentosa Market from a local as well as a global point of view. Over the forecast ...
- A Father’s Vision for New Kind of Gene Therapy Leads to a $100M Financingon May 29, 2023 at 9:12 am
She describes her vision as a tunnel that slowly gets tighter. At 15, she was diagnosed with retinitis pigmentosa, a rare inherited eye disease that causes the retina to slowly deteriorate ...
- Retinitis Pigmentosa: Genetics and Gene-Based Approaches to Therapyon May 28, 2023 at 5:01 pm
Significant advances have been made in the understanding of the genetics of retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of disorders; and over 50 genes underlying ...
- Assessing gene supplementation in a mouse model of retinitis pigmentosaon May 23, 2023 at 10:44 am
A new study shows that total RPE65 protein levels in mice with autosomal dominant retinitis pigmentosa were doubled following subretinal delivery of adeno-associated virus (AAV)-RPE65 gene ...
- Assessing gene supplementation in a mouse model of retinitis pigmentosaon May 22, 2023 at 5:00 pm
A new study shows that total RPE65 protein levels in mice with autosomal dominant retinitis pigmentosa were doubled following subretinal delivery of adeno-associated virus (AAV)-RPE65 gene ...
- Being Diagnosed With Inherited Retinal Dystrophyon May 22, 2023 at 5:00 pm
When I found out I have retinitis pigmentosa (RP), a type of inherited retinal dystrophy, I was shocked. Nobody in my family has vision problems. I had some trouble with my vision, but I thought ...
- Retinitis Pigmentosa Market is expected to hit USD 20.47 Bn by 2029 at a CAGR of 7.8 percent – says Maximize Market Researchon May 19, 2023 at 4:48 am
Pune, May 19, 2023 (GLOBE NEWSWIRE) -- A global Healthcare research and business consulting firm, Maximize Market Research, has published a market intelligence report on the "Retinitis Pigmentosa ...
via Bing News