Using stem cells to develop new treatments for childhood eye cancer

Professor Majlinda Lako from Newcastle University:

“We hope that our research will provide a model in the lab that can be used to understand the genetic events that lead to retinoblastoma tumours as well as to test drugs that go on to clinical trials.”


What is the aim of the research?
University of Newcastle researcher, Professor Majlinda Lako and her team are creating a laboratory model of retinoblastoma using stem cell technology to expand our understanding about the genetic changes which occur leading to tumours forming, spreading and also to identify the retinal cells involved. 

This disease model could open the door to a range of new potential treatments and make existing ones more effective, for example, by helping to target chemotherapy so that more cells are reached.

Why is this research needed?
Retinoblastoma is a rare type of eye cancer which affects the retina, the light sensitive layer of the eye. Although treatable, it commonly results in blindness and is associated with cancers elsewhere in the body.

It is caused by mutations in the RB1 gene, however, research to date has shown that additional genetic changes are needed for continued growth and spread of the tumour. These additional genetic changes are unknown and there is no satisfactory lab or animal models.

The development of a retinoblastoma disease model will allow researchers to gain a better understanding of the genetic factors involved in the development of the cancer.

What method will researchers use?
Blood samples are being taken from children with diagnosed with mutations in the RB1 gene. Genetic factors will be added to cells will be taken from blood samples to turn them into stem cells which have the ability to become any type of cell in the body, including retinal cells. 

The model developed from the stem cells will enable researchers to gain information about which retinal cells are affected by the condition and how tumours progress.

How will this research impact patients?
The information gathered from this project will be crucial to increase the success of intra-vitreal injections of chemotherapy for patients. Patient specific models will be made to assess the invasive potential of tumours which would be very helpful in predicting which eyes are more likely to be salvaged than others. Also, the model will be used to test the effectiveness of new therapeutic regimes for retinoblastoma in the lab, prior to human trials.

Ultimately this research could keep children from losing their sight to eye cancer and help patients like Kalli, 33, and her daughter Autumn, who at 10 months old, discovered she had eye cancer.  Kalli and Autumn are taking part in Professor Lako's research by donating their stem cells and helping to raise awareness of retinoblastoma.

Kalli, said: “Autumn is lucky because her cancer was spotted early. However, there are so many kids and parents in the waiting room whose situation is far worse than ours. It’s so important for parents to proactively look after their child’s eye health.”

Find out more about retinoblastoma