Dr. Brenda Gallie

Dr. Brenda Gallie is a world-renowned ophthalmologist who has championed groundbreaking research on the genetics of retinoblastoma, a rare cancer of children’s eyes. Her discoveries have not only improved the outcomes of children and families with retinoblastoma worldwide, they have also revealed fundamental mechanisms underpinning the basic molecular genetics of cancers in general.

The trajectory for Dr. Gallie’s inspiring career began with her graduation from Queen’s University in 1969, where she credits her gifted teachers for creating the desire to pursue a research career in Ophthalmology. Just more than a decade later, in the 1980s, Dr. Gallie and her collaborators at the Ontario Cancer Institute discovered that retinoblastoma arises in the retina of children when a gene called RB1 becomes mutated and stops its normal function of suppressing cancer. When others later cloned the RB1 gene, Dr. Gallie set out to develop highly sensitive ways to find the exact mistake in RB1 causing cancer in each clinical case.

“I went into medicine to do relevant science,” says Dr. Gallie. “I have been very privileged to care for children and families suffering from retinoblastoma, to collaborate with brilliant scientists to reach deeply into the ways cancers develop, and to work with dedicated people devoted to achieving good outcomes for children with retinoblastoma, everywhere.”

Dr. Gallie’s clinical and basic research focus on retinoblastoma has resulted in the discovery of fundamental principles of tumour suppressor genes and the regulation of activity of the RB1gene and protein, which turn out to be a the root of many human cancers. She has developed a highly sensitive and cost effective methodology for identifyingRB1gene mutations which has demonstrated a beneficial impact on health care quality and economy.

“The RB1 test can determine if an affected child has the heritable form of retinoblastoma,” explains Dr. Gallie. “Then we can determine if the child’s relatives are at risk of also developing retinoblastoma, and whether they need to undergo invasive tests to look for tumours or not.”

Dr. Gallie also leads the not-for-profit company Retinoblastoma Solutions at the Toronto Western Hospital Research Institute that provides the RB1 test to families around the world.

What is Retinoblastoma?

Retinoblastoma is a rare form of eye cancer that affects the retina of infants and young children, occurring in approximately 1 in every 15,000 births.  The best outcomes for retinoblastoma depend on early detection, which maximizes vision and quality of life of the affected child.  Fortunately, with early detection and modern medical care, the survival rate for affected children is 96%.

“However, in order to achieve our goal of early detection, it’s important to educate the public and other health professionals on the signs that might manifest in a child that has retinoblastoma,” says Dr. Gallie. Common digital photographs now routinely reveal the first sign of the cancer to parents – a white glow in the affected eye, like a cat's eye caught in headlights at night.

“We encourage people to share information like this with others,” says Dr. Gallie. “If the diagnosis is made promptly with a referral to a center with expertise, the visual outcome and the quality of life of the affected child are very good.”

Discoveries in the Making

Dr. Gallie is currently a Professor in the Departments of Medical Biophysics, Molecular Genetics, and Ophthalmology at the University of Toronto, Head of Retinoblastoma at the Hospital for Sick Children, and Senior Scientist at the Ontario Cancer Institute at Princess Margaret Hospital. All these positions act synergistically for Dr. Gallie, allowing her to investigate fundamental mechanisms of cancer specifically focused on, but not confined to, retinoblastoma – and to apply that knowledge to change outcomes for retinoblastoma children around the world.

“The various research projects in our lab revolve around characterizing these downstream changes, which we have shown may be shared between retinoblastoma and other cancers,” explains Dr. Gallie.

Her and her team have discovered oncogenes (gained in cancer) or tumor suppressors (lost in cancer) by investigating regions of the genome that are often lost or gained in retinoblastoma. Using a variety of bioinformatic, biochemical, molecular and cell biology techniques, D. Gallie is also seeking the cell type of origin of retinoblastoma amongst the many cells of the complex developing retina.

Because they have found more than 1000 different RB1 mutations in different families, Dr. Gallie’s team at Retinoblastoma Solutions has discovered novel mechanisms by which the gene is damaged that, incredibly, also apply to other genes causing different diseases.

Chasing the Cure, at Home and Abroad

Concerned, however, that her science was applied, at best, to only the lucky 8% of retinoblastoma children in developed countries, Dr. Gallie has initiated an international network “One Retinoblastoma World” to put science and optimal care within reach of the 9,000 children affected per year around the world.

“In less developed countries, there are very few specialists who deal with rare diseases like retinoblastoma,” says Dr. Gallie. “In Canada, retinoblastoma is essentially a curable disease where well over 98% of patients survive to adulthood. In less developed parts of the world, 80% may die.”

One Retinoblastoma World is now developing a unified and comprehensive plan covering clinical care, genetics research and guidelines, focusing always on the best interests of the child.

“We are unconstrained in terms of our ideas and technologies,” says Dr. Gallie. “Our only limitation is funding. With better awareness and support, we can give the gift of life and vision to the children around world.”

For further information, please contact Dr. Brenda Gallie using the Email contact form