On February 1, the Undergraduate Research Students’ Association (URSA) hosted Synergy, its first-ever cancer research conference, showcasing undergraduate research in the field.

The event featured keynote speaker Dr. Helen Dimaras, director of Global Eye Health Research at SickKids and associate professor at the Dalla Lana School of Public Health. In her presentation, “Global Oncology & Precision Child Health: Lessons from Retinoblastoma,” Dimaras shared her research on eye cancer as a model to support SickKids’ Precision Child Health Initiative — a movement that aims to provide better individualized care to children by integrating their full medical background.

Detecting retinoblastoma early

Retinoblastoma is a rare eye cancer that develops as a tumour — abnormal growth of cells — in the retina, the layer of specialized cells at the back of the eye that translates light into electrical signals for the brain to process as vision. 

The cancer primarily affects children under three and can be indicated early through biopsies as well as a simpler method: taking a picture with the flash on. In a phenomenon called leukocoria, affected eyes reflect white instead of red. While healthy pupils reflect red due to the retina, a white reflection may indicate light bouncing off an abnormal structure, such as a cataract or a tumour.

Unlike most cancers, which develop from aging, environmental factors, or lifestyle choices, retinoblastoma can result from hereditary cancer syndrome — a genetic condition that increases the risk for cancers in the eyes, skin, bones, and more. The cancer stems from mutations in the RB1 gene — a protein that regulates cell division. Dr. Dimaras emphasized the importance of genetic testing in detecting retinoblastoma, as it can identify the pathogenic gene variant in children and screen parents for carrier status.

To prevent passing on harmful genes, like those linked to retinoblastomas, Dr. Dimaras explained how families might consider pre-implantation genetic testing alongside in-vitro fertilization — a procedure where fertilized embryos are screened for harmful genes before implantation. 

Others opt for prenatal detection, which allows doctors to deliver babies early — close enough to full-term to protect developmental health, but early enough to prevent tumour formation. After birth, these infants can be closely monitored for signs of cancer.

Disparities in treatment: how it’s being reduced

Treating retinoblastomas also raises equity concerns. Dr. Dimaras explained that while high-income countries like Canada can often restore vision in retinoblastoma patients, survival rates in low- to middle-income countries sit at just 30 per cent.

Dimaras then displayed a world map from her lab showing global retinoblastoma cases alongside treatment centres, revealing that the regions with the highest number of cases have the fewest facilities, leaving the most vulnerable population with limited access to treatment.

Fortunately, progress has been made to address this disparity. Dr. Dimaras highlighted the efforts of the Kenya National Retinoblastoma Strategy Group to improve survival rates in the country. The group has developed clinical guidelines to enhance the quality of care, partnered with international researchers like Dr. Dimaras, and coordinated patient referrals between treatment centres. This collaboration allows for shared care across countries, gradually increasing survival rates.

As retinoblastoma is a curable form of cancer, the World Health Organization has identified it as one of the global pediatric cancers to target, aiming to achieve optimal survival rates for children worldwide by 2030. Dr. Dimaras’ research and international collaboration are critical steps in improving outcomes for those affected by the disease.

A crash course in molecular genetics

When Dr. Dimaras explored how to expand Kenya’s retinoblastoma genetic services, she examined the challenges surrounding the implementation of essential healthcare infrastructures. This involved a systematic review of existing literature on genetic testing in Kenya and evaluating labs already offering genetic services. Her findings highlighted the need for increased medical education, cultural understanding, improved patient and family counselling, and community engagement, to successfully expand these services.

Dr. Dimaras and her team developed an informational booklet on retinoblastoma genetics using human-centred design — a problem-solving approach that prioritizes user needs. Co-created with both patients and clinicians, the booklet outlines effective strategies for engaging patients in screening for retinoblastomas. By involving those directly affected by the disease in her research, she ensures that the results are more relevant and better meet the individual needs of patients.

URSA’s Synergy event and Dr. Dimaras’ presentation brought together life sciences students from several universities, offering valuable insights into ongoing cancer research for both undergraduate students and those in academia.