Building a model to investigate retinoblastoma growth
Professor Majlinda Lako and her team at Newcastle University have completed a vital research project into retinoblastoma, the most common childhood cancer affecting the eye, commonly resulting in blindness.
Retinoblastoma is caused by mutations in the RB1 gene, which usually regulates cell growth and stops uncontrollable cell division.
Previous research had shown that additional genetic changes are needed for continued growth and spread of the tumour. However, there were no satisfactory models to study these changes.
Professor Lako identified several children with RB1 mutations and used samples to generate induced pluripotent stem cells (iPSCs).
These were compared with cells from healthy donors, allowing the researchers to create a model of the disease.
Importantly, this new model can be used to test the effectiveness of new therapeutic regimes for retinoblastoma in the lab, before moving to human trials.
The information gathered from this project will be crucial to increase the success of intravitreal injections for chemotherapy.
Professor Lako said:
“This has been an extraordinary project leading us from patient samples to generation and validation of a retinoblastoma lab model, which we intend to use for identification and/or drug repurposing. We are grateful to the families and patients donating tissue for this project and to Fight for Sight for the funding that made it all possible.”
Retinoblastoma is a rare type of eye cancer which affects the retina, the light sensitive layer of the eye. This type of cancer mainly affects young children under the age of five.
One in 20,000 children in the UK are affected by retinoblastoma with approximately 40-50 new cases being diagnosed each year. In 40% of retinoblastoma cases the cancer can lead to the loss of one eye. However, in over 95% of cases the cancer is treated successfully.
Retinoblastoma can occur as an inherited and non-inherited condition, which can affect one or both eyes.