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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.

Evaluation of PRELP function using retinoblastoma samples

Project leader Professor Ohnuma
Award £50,000
Duration two years, April 2022

Summary

Previous research by Professor Ohnuma has found that whilst PRELP protein is highly expressed in normal retinal tissues, it is not expressed in retinoblastoma. Preliminary data from cell cultures indicate that administration of PRELP to the established laboratory retinoblastoma cell lines inhibited cancer progression. Now, this team wants to confirm that these results have clinical application, by applying PRELP protein to the human retinoblastoma tissues and examining the effect on retinoblastoma development. The advantage of such an approach over some current methods is that only affected cells will be impacted by the treatment, with no expected toxicity to surrounding normal, unaffected retinal cells, thereby preserving more of the child’s vision.

Status: In progress

Further investigation into intra-ocular fluid as a liquid biopsy in retinoblastoma

Project leader Dr Amy Gerrish
Award £14,851.26 joint award with Fight for Sight
Duration one year, August 2021

Summary

This group is developing a form of liquid biopsy, using cell-free DNA (cfDNA) found in ocular fluid to discover if an patient has the heritable or non-heritable form of Rb, and so whether they are at risk of developing further Rb tumours. This information is vital in identifying at risk individuals, and in excluding those not at risk from potentially unnecessary examinations under anaesthetic (EUAs).

Status: In progress

Developing an evidence-based psycho-educational intervention for teenagers and young adults who have had retinoblastoma

Project leader Dr Bob Phillips
Award £73,799
Duration three years, October 2020

Summary

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: In progress

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
Award £50,000
Duration two years, December 2019

Summary

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
Award £50,000
Duration 18 months, May 2020

Summary

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: In progress

Next generation sequencing analysis of retinoblastoma samples

Project leader Professor Shin-Ichi Ohnuma
Award £55,000
Duration 18 months, March 2019

Summary

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

Summary

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