SEK 12 million for research into serious eye disease

LiU researcher Neil Lagali is to coordinate a collaborative research project that has received SEK 12.5 million from the European Joint Programme on Rare Diseases. The researchers will evaluate new experimental treatments for a rare eye disease that affects sight directly from birth.

The eye disease has received its name, aniridia, because the iris is partially or completely missing. This means that children born with aniridia are extremely sensitive to light directly from birth. The condition affects the entire eye and in most cases leads to severely impaired vision and sometimes blindness. In Sweden, a few hundred children and adults are affected by aniridia.Neil Lagali.Neil Lagali. Photo credit Thor Balkhed

“Our work with aniridia has brought me into contact with many children with the condition and their parents. This research grant will mean a great deal, since we now can aim towards developing a treatment to help them. Even a small improvement in vision can bring a great deal to these patients, and give an improved quality of life”, says Neil Lagali, professor in the Department of Biomedical and Clinical Sciences.

Those with aniridia have a fault in a gene that plays a very important role in the development of the eye. Mutations in this gene, PAX6, cause those affected to have approximately half as much of the Pax6 protein for which the gene codes. The researchers in the new project will thus investigate various methods to raise the level of the Pax6 protein in cultured cells and in the eyes of mice. One part of the project will study a particular RNA fragment, or microRNA, identified in a previous study. This microRNA affects the expressions of hundreds of other genes, and the scientists hope that it is a key to increasing the amount of Pax6 protein. In another part of the project, they will evaluate two drugs that are currently used to treat of mental health conditions. It is possible that these drugs increase the level of the crucial protein.

“Using microRNA in treatment is a very new method. Some clinical trials are under way using microRNA, but none of these are for eye diseases”, says Neil Lagali.

The project “Aniridia – Novel therapeutic tools to treat or prevent progressive cornea opacification” is a project within the European Joint Programme on Rare Diseases (EJPRD), financed by the EU Horizon 2020 framework programme and the Swedish Research Council. Researchers at Linköping University are coordinating the project, which also includes researchers in the Netherlands, Israel, Germany, France and Turkey. The total research grant is for SEK 12.5 million, SEK 4.5 million of which has been awarded to Linköping University.

Translated by George Farrants

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