Ocular Genetics Program

When routine clinical genetic testing doesn’t identify relevant mutations, patients are offered a research stream of genome sequencing analysis which has been very successful (80% success rate).

Our genetic counseling team works with patients to guide them and help them understand both clinical and research results.  

Our collaborative network is local, national, and international, which allows us to not only better understand rare IRDs, but also to participate in several think tanks and clinical trials aiming to improve the outcome of patients.

Some trials are Natural History studies that are important to identify the key measures of clinical change, tailored to the patient population studied. Other clinical trials evaluate novel therapeutic opportunities.  

In that vein, we are leading a study on Patient Reported Outcomes for children affected with inherited retinal diseases, which will help us better understand the patient’s perspective of visual impairment.  

Sponsored by Fighting Blindness Canada, we have developed and administered an in-house collaborative National Registry for Inherited Retinal Diseases.  

This is an important tool that allows affected individuals to stay connected with research opportunities, and several of our patients have benefited from retinal gene replacement therapy.

Dr. Ajoy Vincent develops innovative electrophysiology protocols to better understand our molecular findings. He also leads a research mouse ocular phenotyping unit that also allows us to further explore our novel molecular findings.

Dr. Elise Heon collaborates with different research groups to identify and validate new treatments for blinding inherited retinal diseases using surrogate cellular and organoid models. Our work combines genetic, molecular, bioinformatics approaches, and the use of animal models.

Dr. Héon holds The Henry Brent Chair in Innovative Pediatric Ophthalmology. We train students of all levels, from all over the world, to encourage knowledge translation. It’s a very exciting time as what we thought was impossible, is becoming possible! 

• Dr. Elise Héon, MD, FRCSC, Professor, Henry Brent Chair in Innovative Pediatric Ophthalmology 
• Dr. Ajoy Vincent, MD, FRCSC, MBBS, MS, Associate Professor 

• Anupreet Tumber, Visual Electrophysiology Technician 
• Heather Macdonald, Genetic Counselor 
• Regan Klatt, Genetic Counsellor 
• Christine Hays, Clinical Coordinator 
• Wendy Giera Heino, Administrative Assistant 
• Anjali Vig, Assistant Research Technologist 
• Neema Thaliath, Assistant Research Technologist
• Erika Tavares, Research Associate 
• Kashif Ahmed, Research Associate 
• Amaka Ene, Research Assistant