Research projects underway
CHECT funded retinoblastoma research
These projects are currently being funded by CHECT. For past research please have a look at our previous retinoblastoma research page.
Developing an evidence-based psycho-educational intervention for teenagers and young adults who have had retinoblastoma
Project leader Dr Bob Phillips
Duration three years, October 2020
There is little guiding evidence about the specific challenges that teenagers who have had retinoblastoma face as they transition towards young adulthood. Understanding the psycho-educational needs of teenagers and young adults as they transition into adulthood is therefore essential if we are to offer effective interventions to support them. This PhD studentship aims to develop an evidence-based intervention for teenagers and young adults with retinoblastoma that offers relevant, accessible and effective psycho-educational support.
Status: Commencing 2021
Comparing blood to aqueous humor as a liquid biopsy for retinoblastoma: determining the superiority of the aqueous humour as a source of tumor DNA
Project leader Professor Jesse Berry
Duration two years, December 2019
A liquid biopsy for retinoblastoma is especially critical because unlike other cancers, retinoblastoma cannot be biopsied due to risk of spread outside the eye. To overcome this problem, this team has demonstrated that tumor DNA is present in the aqueous, the clear fluid in front of the eye, which is safe to extract. However, the question remains whether blood, which is less invasive, can be used as a liquid biopsy for retinoblastoma as it can with other cancers. The team aims to directly compare blood to aqueous to determine which is a superior source of tumor DNA and thus a better liquid biopsy for retinoblastoma. This critical research has potential to change paradigms of diagnosis, prognosis and future treatment protocols for affected children.
Status: In progress
Assessing the feasibility of pluripotent stem cell derived retinal organoids as a model system to test the safety and efficacy of chemotherapeutic agents in retinoblastoma
Project leader Professor Majlinda Lako
Duration 18 months, May 2020
The recent advances in local delivery of chemotherapy to the eye (intra-arterial or intravitreal injection) have significantly improved the success of eye conserving treatment, with reduction in the need for enucleation. However, there is inevitably some toxicity associated with treatment, which can affect visual function in the eyes that are saved. Further refinements in these techniques and trials of new drugs are essential to maximise efficacy and minimise toxicity, to preserve useful vision. The recent development of retinal organoids by our group provides us with a unique laboratory model of human retina and retinoblastoma. This study is designed to test the safe and effective dose of current as well as novel drugs on the laboratory model (retinal organoids), and to study the toxic effects on the retina. This valuable information will help shape treatment strategies such as new drug combinations and new dosage schedules to treat effectively retinoblastoma tumours while minimising damage to vision.
Status: Commencing 2021
Next generation sequencing analysis of retinoblastoma samples
Project leader Professor Shin-Ichi Ohnuma
Duration 18 months, March 2019
Despite knowing the RB1 mutation it is difficult to predict the outcome of treatment. This project proposes to study the genetic changes that occur in retinoblastoma, using whole genome sequencing (the process of determining the complete DNA sequence) to detect those variants associated with good and bad prognosis or with a favourable treatment outcome. This new level of diagnosis could potentially make a significant contribution to the selection of treatment, and avoid the loss of one or both eyes. Also, identification of new cancer modifying genes may provide new targets for treatment. Furthermore, this study aims to establish a new system to diagnose Rb in the clinical setting, which includes detailed examination of patient genome sequencing/analysis.
Status: In progress
Eloise Patterson Project
Project leader Dr Zerrin Onadim
Award Phase I £24,800; Phase II 24,978.39
Duration Phase I one year, Nov 2015; Phase II one year December 2020
Records held at the Royal London Hospital will be studied alongside those from the Childhood Cancer Research Group to investigate the way in which risk of tumours occurring in later life depends on different genetic mutations associated with heritable Rb, on the treatment (radiotherapy, chemotherapy) used in treating Rb, and to calculate statistical estimates of these risks.
It is hoped this will lead to clinicians and geneticists having better information available to them when assessing the risks of second tumours occurring. This could potentially lead to earlier diagnosis and treatment of these second cancers.
Status: Phase II commencing December 2020
Investigation of the mutational landscape of retinoblastoma
Project leader: Dr Carmel McConville
Award: £15,000 joint funding CHECT and Fight for Sight; additional £14,200 CHECT
Duration: One year, May 2014
Extension funding awarded: £6,500 CHECT
Duration: 14 months, November 2018
We have established cell lines from 15 different retinoblastomas and these represent one of the largest collections of retinoblastoma cell lines worldwide.
We will use the latest technology, known as ‘next generation sequencing’, to look at the DNA sequence of every active gene in these retinoblastoma cell lines. This sequence will be compared to a normal reference sequence in order to identify genes which are mutated. The sequence analysis will indicate which genes which are most frequently mutated in retinoblastoma and will also show how the overall cellular genetic activity is influenced by these mutated genes.
All of this information is essential to inform future research into the development of novel targeted therapeutics capable of reversing the effects of mutated genes in retinoblastoma.
Status: Project extension commenced November 2018