Dr. Elise Héon: Connecting Patients and Researchers

It is estimated that 21,000 Canadians have an inherited retinal disease (IRD), an umbrella term that encompasses more than 20 eye diseases caused by genetic mutations.

“There is a lot of heterogeneity under a big umbrella,” says Dr. Elise Héon, Staff Director, Ocular Genetics Program, Department of Ophthalmology and Vision Sciences at the Hospital for Sick Children (SickKids).

Though there is no cure, a lot of progress is being made.

“What we thought was impossible is now possible. It’s a new era. When I started my career in 1991, we knew of only three genes that caused an inherited retinal disease. Now there are over 300 known genes,” she says.

This is why she advocated for making genetic testing available to all patients with an IRD — it would enable doctors to understand the cause of vision loss and to know if a treatment or study was available.

It became clear that there was a great need to connect patients with researchers doing research, and so, in conversations with colleagues, Dr. Héon decided a national patient registry was critical.

“There are so few of us trained to deal with patients with IRDs. The only way we could get connected is to create a registry,” she says. With the sustained support of Fighting Blindness Canada Dr Héon, was able to make the registry a reality.

Registries are important tools that enable researchers to find ideal candidates for a research study such as clinical trials, among others. Patients who choose to be part of the registry wish to be identified for any research opportunity that may benefit them. Patients who may be a fit for a study are contacted with an information letter and can determine whether they want to participate or not.

The registry can also help identify commonalities in a disease and enhance our understanding of just how rare (or not) a rare disease is.

“IRDs are now actionable diseases. Something can be done,” says Dr. Héon, even if it is to provide a proper diagnosis and counseling. Patients do not have to remain alone. She hopes that the patient registry will help researchers and patients take action more quickly as new treatments go into clinical trial.

Learn more about Fighting Blindness Canada’s IRD Patient Registry.