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Ocular Genetics Program

The SickKids Ocular Genetics Program oversees translational research that's unique in Canada, covering all areas of patient-centric clinical and basic research.

Our research team engages in clinical research-specific ocular and electrophysiological assessments of patients with inherited eye disorders (IRDs) and performs genetic testing on a research basis, including whole exome and whole genome sequencing.  

We’re also involved in basic science research exploring new molecular findings. We collaborate with different research groups combining genetic, molecular, bioinformatics approaches, and the use of animal models. The program hopes to facilitate genetic diagnosis in IRDs, and contribute scientifically towards new therapeutic approaches to improve people’s vision. 

Current Inherited Retinal Disease (IRD) Research

The Ocular Genetics team is currently exploring these areas of Inherited Retinal Disease:

  • Genome sequencing analysis for genotype/phenotype correlation
  • Natural History Studies for clinical outcomes
  • Specialized Visual electrophysiology protocol testing
  • Therapeutic interventional clinical trials
  • Patient reported outcomes 

Research activities

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. Its a very exciting time as what we thought was impossible, is becoming possible! 

Participate in research

Interested in contributing to research in the ocular genetics program? 

The Ocular Genetics Research Team works closely with SickKids clinicians and clinic staff. In patients with inherited eye disorders that require further investigation to establish a clinical diagnosis, the research team co-ordinates research assessments and testing. All research is approved by the SickKids Research Ethics Board after extensive review.

Eligible patients are informed of the study by the circle of care physicians, and interested participants are provided with further information and time to consider participation. Drs. Héon and Vincent make sure that research assessments are coordinated with clinical visits as much as possible. The research staff will guide participants throughout the research assessments. Research results will be investigated clinically if warranted and counseling is offered as appropriate. Dr. Elise Heon and Dr. Ajoy Vincent are affiliated to the Genetics and Genome Biology Division of the SickKids Research Institute.

Contact Vaishnavi Batmanabane with any questions, and we’ll guide you throughout each research assessment, and any concerns will be addressed prior to the visit. 

Get in touch

Meet the team

The Ocular Genetics Research Team focuses on research regarding genetically determined Retinal Disorders and other eye conditions, as well as systemic disorders with associated eye involvement. Our team includes ophthalmologists specializing in ocular genetics, orthoptists, ophthalmic imaging specialists, research techs, associates, and managers.

Our research team works with ocular genetic counselors and the social worker for effective communications and to deliver patient-centric care. We keep participants informed of research outcomes, and the appropriate circle of care physicians are informed of results to improve clinical management. 

  • 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 
  • Jeff Locke, Lead Orthoptist  
  • Heather Macdonald, Genetic Counselor 
  • Regan Klatt, Genetic Counsellor 
  • Christine Hays, Clinical Coordinator 
  • Wendy Giera Heino, Administrative Assistant 
  • Vaishnavi Batmanabane, Research Manager 
  • Anjali Vig, Assistant Research Technologist 
  • Erika Tavares, Research Associate 
  • Kashif Ahmed, Research Associate 

Recommended reading

Apply for a one-year fellowship in the Ocular Genetics Program

The Department of Ophthalmology and Vision Sciences offers a Fellowship in Ocular Genetics. This is a 1-year program offered through the University of Toronto.  

Through the Institute of Medical Sciences (IMS) at University of Toronto, Dr. Heon and Dr. Vincent mentor graduate students and provide new learning opportunities. Our lab also accommodates students who volunteer their time to gain experience in working with patients and cutting-edge research in genetics and electrophysiology. 

For more information on applying, check out the U of T Paediatric Ophthalmology & Strabismus to apply. 

For summer/graduate student research opportunities, please contact Erika Tavares for summer/graduate student research opportunities.  

For volunteer opportunities, please contact Vaishnavi Batmanabane. 

Contact us

Have a question? Get in touch with us today by emailng us at Vaishnavi.batmanabane@sickkids.ca, or call 416-813-7654 ext. 301511.

The Department of Ophthalmology and Vision Sciences 
The Hospital for Sick Children (SickKids) 
Main Floor, Burton Wing 
555 University Avenue 
Toronto, Ontario M5G 1X8

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