netbook
desktop
mobile
tablet-landscape
tablet
phone-landscape
phone
Research to Prevent Blindness

Reversing Retinal Degenerative Diseases: We’re One Step Closer

Degenerative disorders affecting the retinal pigment epithelium (RPE), such as age-related macular degeneration and autosomal recessive bestrophinopathy, can ultimately lead to blindness. Some of these life-changing disorders are the result of mutations in a single gene, called BEST1.

Although the genetic defect in BEST1 was identified almost two decades ago, its physiological role—how it does what it does, was unclear. Now, researchers from Columbia University and University of Rochester have used a novel approach to solve this mystery. Today, they published their pioneering study in the journal eLife

RPB Physician-Scientist Awardee Stephen H. Tsang, MD, PhD, of Columbia University, at work in his lab.

The researchers created a “disease-in-a-dish,” meaning that they coaxed skin cells taken from an adult patient first back into an embryonic-like state (called induced pluripotent stem cells, or iPSCs) and then into RPE cells to create a model of retinal degenerative disease. Then they assessed physiological properties of the RPE cells carrying normal or mutated BEST1 via innovative, interdisciplinary approaches to pinpoint the exact role of the BEST1 gene.

The researchers were also able to show that RPE cells that carry the BEST1 gene mutations, which are the same cells that are damaged by degenerative diseases, can have their damage reversed by providing healthy copies of the BEST1 gene (through viral gene supplementation, which uses a specially selected virus to “carry” new genes into the cells).

“Our team provided evidence that autosomal recessive bestrophinopathy is a ‘chloride channelopathy’ and is a treatable disorder,” said RPB Physician-Scientist Awardee Stephen H. Tsang, MD, PhD, Associate Professor of Ophthalmology and Associate Professor of Pathology and Cell Biology at Columbia University, and Tingting Yang, PhD, Assistant Professor of Pharmacology and Physiology at University of Rochester.

 

 

Related News: Feature Story, Gene Therapy, Macular Degeneration, Retina Disorders , Stem Cell Therapy, Top Story

RPB and AAO Announce New Grant Opportunities to Support Vision Research

Partnership to utilize IRIS Registry database to advance patient care.

Read More

 

Understanding Usher Syndrome: New Findings

RPB-supported researchers make progress in characterizing the genetic components of Usher syndrome.

Read More

 

New Stem Cell Model Replicates Macular Degeneration

The model will allow researchers to better assess treatments for this hard-to-study cause of blindness.

Read More

 

Researchers ID Key Compounds Related to Blood Vessel Growth in Wet AMD

The findings may have significant therapeutic implications for AMD, the most common cause of elderly blindness in the developed world

Read More

 

FAQs: Aug. 21 Solar Eclipse

RPB provides information to help you protect your eyes during the upcoming solar eclipse.

Read More

 

RPB-supported Researchers ID Master Molecule behind Corneal Inflammation

RPB-supported researchers at the University of Illinois at Chicago have identified an enzyme present in the cornea that triggers inflammation during and even after a herpes virus infection.

Read More

 

Subscribe

Get our email updates filled with the latest news from our researchers about preventing vision loss, treating eye disease and even restoring sight. Unsubscribe at any time. Under our privacy policy, we'll never share your contact information with a third party.