By Katelyn Nguyen
Botond Roska, a Hungarian scientist, recently received a one million euro prize from the Körber Foundation for his procedure that could potentially cure blindness. The next phase for this huge step in medicine is the clinical trials.
The type of blindness that Roska could possibly cure is retinitis pigmentosa, a rare genetic and degenerative condition that is commonly found in children.
About one out of 4,000 people are diagnosed with retinitis pigmentosa. The illness occurs in the retina, a thin tissue found in the back of the eye that contains photoreceptor cells, which capture light and send signals to the brain.
The effects of retinitis pigmentosa vary for each person in terms of severity. In the early stages of this illness, a person would start to develop tunnel vision and have difficulty seeing in the dark. As the person gets older, they will begin to lose their vision.
A person who is blind would not have functioning photoreceptor cells because the retina would degenerate over time. There are treatments available, but no effective cure.
Roska received a Ph.D. from the University of California, Berkeley, and was a researcher at Harvard. He later went on to form a research team in Basel, Hungary. There, his team made many advancements in ophthalmology, the study of the eye and diseases related to it.
They discovered that the retina has about 100 cell types and how each of these plays a role in providing vision. On top of that, the team identified the specific genes that play a role in retinitis pigmentosa. Armed with this information, they developed a promising procedure that would restore sight to patients with this disease.
The procedure centers around gene therapy, which either replaces or “turns off” the disease-causing gene. Roska and his team took the DNA of the retina cells and reprogramed or “rewired” the cells to become functioning photoreceptors.
On a molecular level, functioning genes are transported to the retina, and cells are programmed to capture light and send signals to the brain. The number of functioning retinal cells increases, causing the retina to be able to function as a whole.
Although sight is restored, Roska stated that the procedure will only allow the patients to see black and white. If the clinical trials for this potential cure go well, then children with retinitis pigmentosa will be able to have their sight improved or restored.
