Enabling the blind to see again?

The Körber Prize for European Science 2020 will be awarded to Hungarian physician Botond Roska, who has revolutionized ophthalmology and the field of vision and retinal research. He has set himself the goal of restoring sight to the blind.

Reprogramming cells into retinal cells

The Körber Prize for European Science 2020, which is endowed with one million euros, will be awarded to the Hungarian physician Botond Roska. With his work, Roska has revolutionized ophthalmology and is one of the world's leading experts in the field of vision and retinal research. He has set himself the goal of restoring sight to the blind.

Most visual diseases are caused by hereditary or age-related defects in the retina. Roska and colleagues have done pioneering work in tracking down the approximately one hundred different cell types in the retina and investigating their complex interplay in signal processing. They succeeded in tracing numerous retinal diseases back to genetic defects in individual cells. The scientist is now working on making these fundamental insights fruitful for patients and using gene therapies to alleviate or cure their diseases. Roska achieved a real breakthrough when he reprogrammed a cell type in the eye so that it could take over the function of defective light receptor cells. He was thus able to make blind retinas light-sensitive again - and clinical trials with blind people have already begun.

Virtuoso play with the genes

Botond Roska, 50, initially studied cello at the Academy of Music in Budapest, but had to give up his musical career due to an injury and subsequently completed studies in medicine and mathematics. He received his doctorate as a neurobiologist in Berkeley, USA, and then continued his research as a Harvard Fellow in the fields of genetics and virology at Harvard. From 2005 to 2017, Roska led a research group at the private Friedrich Miescher Institute for Biomedical Research in Basel, Switzerland. Together with Professor Hendrik Scholl, he became founding director of the Institute of Molecular and Clinical Ophthalmology Basel, IOB, in December 2017.

For many people, the idea of going blind is even worse than, for example, contracting Alzheimer's disease or cancer. An estimated 36 million people worldwide are blind and over a billion suffer from significant visual impairment.

For a long time, innovations in ophthalmology were frustratingly slow. "This is due to the fact that basic researchers often do not know exactly enough about the therapeutic needs in hospitals," explained Roska. One reason is that they lack direct contact with the patients. The science teams in the clinics, on the other hand, are usually not well informed about the latest state of basic research.

In order to close this gap, the IOB has been pursuing an interdisciplinary approach since 2017, in which "basic researchers and clinicians work hand in hand every day". An essential factor in the success of the IOB is the multidisciplinary access and combination of methods from genetics, molecular biology, neurosciences and computer science. Traditionally, physicians have mainly examined the retina of the eye as tissue. However, Roska and her colleagues took the trouble to intensively study the approximately one hundred cell types in the retina and their functional interaction for the first time. The team also localized and mapped genetic defects that lead to eye diseases. The researchers thus created a pool of new knowledge that puts ophthalmology on a new footing.

Complex structure of the retina as an exit

"The retina is a dislocated part of the brain. Its complex network of nerve cells processes the signals similar to a computer," said Roska. Its complicated structure makes the retina particularly susceptible and, of all the body's organs, it is the most affected by genetic diseases. Roska is particularly interested in the most common genetic eye disease, retinitis pigmentosa.

Until now, retinitis pigmentosa has generally been considered incurable. Roska now wants to apply a healing method that he already tested in 2008: Using gene shuttles, light-sensitive protein channels, which originate from algae, fungi or bacteria, are incorporated into still intact cells of the retina. These then take over the task of light receptor cells and allow at least a partially restored vision. A clinical study with five patients is already underway.

Hope also for AMD

Age-related macular degeneration (AMD) is another disease of the photoreceptors. This disease affects only the central region of the retina. Roska's team has recently developed a new technology that may in future make it possible to restore visual function in the degenerated fovea of AMD sufferers. The researchers sensitized human retinal cells to infrared light, which can be projected onto the fovea with special glasses.

Roska's latest success may well prove to be a decisive aid in this process. He has succeeded for the first time in growing a complete artificial retina in Petri dishes. Using various genetic engineering steps, a retinal organoid grows from a patient's skin cell in about 30 weeks. These organoids contain similar cell types with the same or related functions as the adult retina. If the patient from whom the skin sample was taken has genetic defects in the retina, these defects are also found in the artificially cultured organoids. The researchers can now use these miniature retinas to test whether certain gene therapies work and try out different approaches.

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