Ever since the charity’s earliest days, funding research into Rb has been a key part of the Childhood Eye Cancer Trust’s work. Though CHECT is a small charity it provides a substantial proportion of global funding for research on Rb.

Back in 1997, CHECT, then known as the Retinoblastoma Society, invested £90,000 in a project that led to increased knowledge of mutations present in the RB1 gene, raising the prospect of genetic screening for families affected by retinoblastoma. Now, almost 20 years later genetic screening is a reality, providing vital information for families affected by Rb. Siblings at low risk of developing the disease themselves are spared years of potentially traumatic screening under general anaesthetic, and individuals have more options available to them when planning families of their own.

Around the same time, CHECT supported the development of a comprehensive database containing clinical data and other information about families affected by Rb, laying the groundwork for later epidemiological studies. A second grant funded work from this database to establish essential information about the risk of second tumours for those diagnosed with Rb. It has long been known that a diagnosis of the heritable form of Rb carries an increased risk of sarcomas (tumours of connective tissue like bone and cartilage), but this important epidemiological work was able to provide more accurate information about risk.

While the increased risk of a second tumour is not welcome news, it is reassuring that the risk is only slightly larger than that for the population in general. This knowledge empowers Rb families to persuade GPs and other health professionals to take seriously concerns over new symptoms and make appropriate referrals for further investigations where necessary.

In the lab
Laboratory science has been important to CHECT too, as it is only by investigating a wide range of possible molecular targets in cell lines in the lab that new therapies will be developed. Over the years CHECT has funded (and continues to fund) exploratory projects attempting to identify new targets for much more focussed treatments. The hope is that identifying such targets will lead to future therapies where some of the side effects of current treatment options which treat the whole body, such as chemotherapy, can be avoided.

While it may be years before any viable therapies are developed from this research, CHECT believes that only by funding exploratory projects like this will progress eventually be made.

Psychological studies
CHECT has always been conscious of the impact Rb can have on individuals and families, and so has funded research to examine the psychological aspects of living with retinoblastoma. A past study provided detailed information about the issues that most concern parents of a child diagnosed and living with Rb, and how they want to learn about these issues. The results of this study have helped to shape our current support service that is so valued by our members.

Our current research continues to cover a broad spectrum. From exploratory research into the causes of Rb which we hope will lead to new, more targeted treatments; to using new imaging technology to make follow-up examinations for children with Rb much less traumatic ; from improving genetic screening methods to ensure even more families have this information available to them; to understanding and overcoming barriers to living with an artificial eye.

Earlier this week the Scientific Advisory Committee met to discuss the 12 new applications we have received for this year’s research grant funding, applications that have come from all over the world.

Making a commitment to invest
We know that research into Rb is a priority for our members, without whom none of the above projects could have taken place. As we enter a new strategic phase, research into Rb remains at the centre of the charity’s mission. Our trustees have committed to increasing the proportion of CHECT income that we invest in new research over the next five years. We are also increasing our commitment to psychosocial research into the effects of having Rb so that ways to reduce the negative impact on those affected can be developed. This is in addition to continuing to fund clinical studies, and to support advances in basic science that may underpin the next generation of treatments.

The advances that have been made in the last 30 years have transformed Rb from being a deadly childhood cancer, to a largely curable disease. Your support during World Retinoblastoma Awareness Week will enable CHECT to continue to fund world-class research into the development, prevention, treatment and consequences of retinoblastoma, helping us to reduce further the trauma and suffering the disease causes.