27 March 2017

The US-based foundation Fighting Blindness has pledged to fund vision research at Radboudumc and the Donders Institute with a total sum of five million dollars. The funds will be used to develop therapies for hereditary diseases of the retina and Usher syndrome.

There are thousands of children and adults in the Netherlands affected by hereditary diseases of the retina. These are conditions for which - until this day - treatment is elusive. At Radboudumc and the Donders Institute, several research groups are working to develop new therapies with which these conditions can be treated.

Genetic bandaid
The first project is a collaboration between the departments of genetics, ENT, and opthalmology, and aims to find genetic errors that lead to abnormalities in messenger RNA (mRNA). Frans Cremers, professor of Blindness Genetics and coordinator of the project: "mRNA translates DNA to proteins. We developed a 'genetic bandaid' that can patch errors in  mRNA, which leads them to produce functioning proteins again. With the new funding we are going to improve this technique and test it in animal models. Thereby, we hope to eventually develop experimental treatments for patients suffering from retinitis pigmentosa, Stargardt's disease, and Usher syndrome. These are all diseases  where these types of genetic errors occur."

Controlling regulation
In the second project, the department of Genetics will collaborate with universities in London, Mainz, and Tübingen. Work in cells, and thus also in the retinal cells in the eye, is performed by proteins. To perform its various duties, every cell maintains a dynamic balance of different active proteins. "We want to unravel the mechanisms by which the amount of active proteins is regulated within a retinal cell", says Ronald Roepman, professor of Genetics and coordinator of this project. "This regulation is disturbed in hereditary diseases of the eye. The knowledge that we are going to obtain can be used to develop medication to counter counter these disturbances. This way, we aim to stop the progression of blindness in patients".

Two out of three
The US-based faoundation Fighting Blindness has approved a total of three of these large funds this year, of which two were awarded to research groups in Nijmegen.

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