Study turning patient skin into healthy eye cells could be major advancement

06 December 21

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Turning skin into healthy eye cells

A study that turns patient skin into healthy retinal cells could advance science and transform medical research for years to come.  

Newcastle University’s Professor Majlinda Lako hopes the project, which is currently focusing on Retinitis pigmentosa (RP), will lead to finding a viable treatment for the most common inherited eye condition in the UK.

The condition, which can be detected by a generic eye test, leads to gradual deteriorating vision and registered blindness.

Professor Majlinda Lako is a Professor of Stem Cell Science and winner of the international BD Stem Cell Award

Retina in a dish

The research team developed the innovative model “retina in a dish” using stem cells derived from the skin of retinitis pigmentosa patients with mutations in a key gene (PRPF31) to explore their genetic make-up.

Using this model, the team can identify how misinterpretations of the genetic code can affect cells.

Through this work, the team was able to successfully recreate the defects which can lead to RP and also discovered that correcting the genetic mutation can result in halting the progression of the condition.

Why it matters

Many causes of blindness remain untreatable and severe visual loss has a very significant impact on quality of life, leading to social isolation and depression.

Many hereditary eye conditions, such as RP, have no known cure and are a significant cause of blindness.

RP has a population incidence of 1 in 3000 meaning that there are approximately 21,000 people in the UK alone experiencing this.

Currently the lack of an effective treatment for patients with RP means that unfortunately once diagnosed, the person with the disease can only be supported as vision steadily deteriorates.

A number of sophisticated treatments including gene therapy and retinal implants are being explored, but ultimately, we need to understand what causes the condition in the first place. Being able to utilise models which accurately present the condition provide a valuable tool in developing new treatment options.