Now, personalized gene therapies for vision loss

A new approach to develop personalized gene therapies for people suffering from retinitis pigmentosa (RP) has been developed by the researchers.

 The RP is one of the major causes of vision loss.
The approach uses induced pluripotent stem cell technology to transform skin cells into retinal cells. These cells are then used by the researchers as a patient-specific model for disease study and preclinical testing.
The researchers from Columbia University Medical Center (CUMC) used this approach to show that a form of RP caused by mutations to the gene MFRP (membrane frizzled-related protein) can disrupt the protein that gives retinal cells their structural integrity.
"The use of patient-specific cell lines for testing the efficacy of gene therapy to precisely correct a patient's genetic deficiency provides yet another tool for advancing the field of personalised medicine," said Stephen H Tsang, the Laszlo Z Bito Associate Professor of Ophthalmology and associate professor of pathology and cell biology.
The RP could also begin during infancy but its first symptoms typically emerge in early adulthood, causing night blindness. In later stages, the photoreceptors in the macula are destroyed by the RP. The photoreceptors are responsible for fine central vision.
"This study provides both in vitro and in vivo evidence that vision loss caused by MFRP mutations could potentially be treated through AAV gene therapy," said coauthor Dieter Egli, an assistant professor at CUMC.
The paper was published in Molecular Therapy, the official journal of the American Society for Gene & Cell Therapy.

 

 

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Eyes may predict stroke risk

Photographing the retina may help detect which high blood pressure patients are more likely to have a stroke, scientists have found.

 

Retinal imaging may be an inexpensive and non-invasive way to assess risk for stroke, according to a study.

 

"The retina provides information on the status of blood vessels in the brain," said the lead author of the study.

 

"Retinal imaging is a non-invasive and cheap way of examining the blood vessels of the retina," he said. 

 

Worldwide, high blood pressure is the single most important risk factor for stroke. However, it's still not possible to predict which high blood pressure patients are most likely to develop a stroke.

 

Researchers tracked stroke occurrence for an average 13 years in 2,907 patients with high blood pressure who had not previously experienced a stroke.

 

At baseline, each had photographs taken of the retina, the light-sensitive layer of cells at the back of the eyeball.

 

Damage to the retinal blood vessels attributed to hypertension - called hypertensive retinopathy - evident on the photographs was scored as none, mild or moderate/severe.

 

During the follow-up, 146 participants experienced a stroke caused by a blood clot and 15 by bleeding in the brain.

 

They found the risk of stroke was 35 per cent higher in those with mild hypertensive retinopathy and 137 per cent higher in those with moderate or severe hypertensive retinopathy.

 

Even in patients on medication and achieving good blood pressure control, the risk of a blood clot was 96 per cent higher in those with mild hypertensive retinopathy and 198 per cent higher in those with moderate or severe hypertensive retinopathy.

 

"It is too early to recommend changes in clinical practice," he said.

 

"Other studies need to confirm our findings and examine whether retinal imaging can be useful in providing additional information about stroke risk in people with high blood pressure," he said.

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Seven genetic risk factors found to be associated with common eye disorder

An international group of researchers has discovered seven new regions of the human genome — called loci — that are associated with increased risk of age-related macular degeneration (AMD), a leading cause of blindness. The AMD Gene Consortium, a network of international investigators representing 18 research groups, also confirmed 12 loci identified in previous studies. 

Combining data from multiple studies, this international effort provides insight into the molecular basis of AMD, which will help researchers search for causes of the disease and will inform future development of new diagnostic and treatment strategies.

AMD affects the macula, a region of the retina responsible for central vision. The retina is the layer of light-sensitive tissue in the back of the eye that houses rod and cone photoreceptor cells. Compared with the rest of the retina, the macula is especially dense with cone 

photo-receptors and is what humans rely on for tasks that require sharp vision, such as reading, driving, and recognizing faces. As AMD progresses, such tasks become more difficult and eventually impossible. Some kinds of AMD are treatable if detected early, but no cure exists. An estimated 2 million Americans have AMD.

Scientists have shown that age, diet, and smoking influence a person’s risk of developing AMD. Genetics also plays a strong role. AMD often runs in families and is more common among certain ethnicities, such as people of Asian or European descent.

Since the discovery that certain variations in the gene for complement factor H — a component of the immune system — are associated with major risk for AMD, research groups around the world have conducted genome-wide association studies to identify other loci that affect AMD risk. 

The AMD Gene Consortium combined data from 18 research groups to increase the power of prior analyses. The current analysis identified seven new loci near genes. As with the previously discovered 12 loci, these seven loci are scattered throughout the genome on many different chromosomes.

A large number of samples was needed to detect additional genetic variants that have small but significant influences on a person’s disease risk.  By cataloguing genetic variations associated with AMD, scientists are better equipped to target corresponding biological pathways and study how they might interact and change with age or other factors, such as smoking.

The 19 loci that were found to be associated with AMD implicate a variety of biological functions, including regulation of the immune system, maintenance of cellular structure, growth and permeability of blood vessels, lipid metabolism, and atherosclerosis.

As with other common diseases, such as type 2 diabetes, an individual person’s risk for getting AMD is likely determined not by one but many genes. Further comprehensive DNA analysis of the areas around the 19 loci identified by the AMD Gene Consortium could turn up undiscovered rare genetic variants with a disproportionately large effect on AMD risk. Discovery of such genes could greatly advance scientists’ understanding of AMD pathogenesis and their quest for more effective treatments.