23.11.2015

Cause of hereditary blindness discovered

Cause of hereditary blindness discovered

Experts have discovered the cause of hereditary blindness in humans, in a development which could have major implications for thousands of people across the planet.

A study published in Human Molecular Genetics and carried out by experts from Ruhr-University, Bochum reveals that specialists have identified the occurrence of progressive retinal degeneration in Schapendoes dogs.

The scientists found that mutations of the CCDC66 gene are responsible for causing retinal degeneration in dogs and may also have the same effect in humans, causing retinitis pigmentosa.

According to the experts, the insights gained from the studies will now be applied in order to "better understand" the processes that cause the inherited disorder and hopefully lead to the formulation of new therapies to target it.

In other research, specialists from Indiana University-Purdue University Indianapolis have used cutting-edge stem cell technology to correct a genetic defect present in the rare blinding disorder gyrate atrophy.

According to the experts, this is another step on a "promising path" that could one day lead to therapies to reverse blindness caused by common retinal diseases including both macular degeneration and retinitis pigmentosa.

by Adrian Galbreth


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