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IMAGE: Researchers developed an experimentally validated advanced computer model that reproduces the shapes and positions of millions of nerve cells in the eye, as well as the physical and networking properties. view more
Credit: Gianluca Lazzi
There are millions of people who face the loss of their eyesight from degenerative eye diseases. The genetic disorder retinitis pigmentosa alone affects 1 in 4,000 people worldwide.
Today, there is technology available to offer partial eyesight to people with that syndrome. The Argus II, the world s first retinal prosthesis, reproduces some functions of a part of the eye essential to vision, to allow users to perceive movement and shapes.
Gene discovery confirms role of serine deficiency in rare eye disease
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Credit: Thomas Johnson and Johns Hopkins Medicine
In experiments in mouse tissues and human cells, Johns Hopkins Medicine researchers say they have found that removing a membrane that lines the back of the eye may improve the success rate for regrowing nerve cells damaged by blinding diseases. The findings are specifically aimed at discovering new ways to reverse vision loss caused by glaucoma and other diseases that affect the optic nerve, the information highway from the eye to the brain. The idea of restoring vision to someone who has lost it from optic nerve disease has been considered science fiction for decades. But in the last five years, stem cell biology has reached a point where it s feasible, says Thomas Johnson, M.D., Ph.D., assistant professor of ophthalmology at the Wilmer Eye Institute at the Johns Hopkins University School of Medicine.
How to Protect Neurons and Encourage Their Growth
Many neurodegenerative conditions, from glaucoma to Alzheimer’s disease, are characterized by injury to axons the long, slender projections that conduct electrical impulses from one nerve cell to another, facilitating cellular communications. Injury to axons often leads to neuronal impairment and cell death.
Researchers know that inhibiting an enzyme called dual leucine zipper kinase (DLK) appears to robustly protect neurons in a wide range of neurodegenerative diseases models, but DLK also inhibits axonal regeneration. Until now, there have been no effective methods to modify genes to improve both the long-term survival of neurons and promote regeneration.
Study in mice shows genes may be altered through drug repurposing
Researchers at the University of Illinois Chicago have published a study showing a promising approach to using drug repurposing to treat genetic diseases.
A team from the UIC Department of Ophthalmology and Visual Sciences published the article, Gene dosage manipulation alleviates manifestations of hereditary PAX6 haploinsufficiency in mice in the journal Science Translational Medicine.
Nearly all the genes in human DNA have two copies, one inherited from the mother and one from the father. There are some genetic diseases where only one copy is normal and the other one is non-functional due to a mistake in the DNA. The idea behind this study was to see if the normal copy can be enhanced to make up for the non-functional copy, said Ali Djalilian, UIC professor of ophthalmology and corresponding author of the paper.
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