Elise Héon

Dr. Héon has been staff ophthalmologist at SickKids since 1996. Her career focusses on inherited eye disorders, now mostly on inherited retinal diseases. She directs the Ocular Genetics program providing comprehensive assessment, genetic testing and counseling of patients affected with inherited retinal disorders. She became Chief of Ophthalmology in 2003 when her laboratory was moved from the Toronto Western to SickKids Research Institute. She has trained numerous students of various academic levels from around the world. 

Research

Dr. Héon’s current research focusses on the genetic characterization of inherited retinal disorders when clinical genetic testing did not identify the disease-causing variant(s). Using Genome sequencing and sophisticated analytical protocol, her group has been successful in deciphering nearly 80% of cases. Dr. Héon has a specific interest in disease cause by genes affecting cilia, ciliopathy, namely Bardet Biedl syndrome. Using cells from patients and high throughput drug screening through the SPARC facility, her groups is trying to identify small molecules that may improve patient outcome. Lastly, Dr. Héon is exploring patient reported outcome measures (PROM) for IRD and especially in children, which would best represent the impact of the visual impairment on the patient daily living. 

Education and experience

• 2006/2–2017/6: Associate Surgeon-in-Chief for Research, The Hospital for Sick Children. 
• 2004/7–Present: Professor of Ophthalmology University of Toronto. 
• 2003/1–2013/6: Ophthalmologist-in-Chief. The Hospital for Sick Children. Toronto. Ontario. 
• 1996–Present: Staff Ophthalmologist, the Hospital for Sick Children, Toronto. 
• 1995–1996: Specialized Fellowship, Hopital Jules Gonin, Lausanne, Switzerland. 
• 1995/7 Certificate: Fellowship in Molecular Ophthalmology - Fellow, University of Iowa Hospitals and Clinics (1994- july1995) 
• 1992/1–1993/12: Certificate, Clinical and Research Fellow in Pediatric Ophthalmology and Ocular Genetics, The Hospital for Sick Children, Toronto, Ontario. 
• 1992/9–1992/10: Certificate, Course on "Mammalian and Experimental Genetics", The Jackson Laboratory 
• 1990/9–1991/6: Certificate, Chief Resident in Ophthalmology, Université de Sherbrooke, Quebec. 
• 1988/9–1991/6: Certificate, Residency in Ophthalmology, Centre Hospitalier Univ. de Sherbrooke, Quebec. 
• 1987/9–1988/6: Certificate, Specialized Internship in Ophthalmology, Centre Hospitalier Hôtel-Dieu de Sherbrooke. 
• 1987/5–1987/6: Certificate, Clinical Rotation in Ophthalmology, Hôpital Bichat-Claude Bernard. 
• 1982/9–1987/5: Doctorate, Medical Education - M.D., Centre Hospitalier Univ. de Sherbrooke. 
• 1979/9–1982/5: Diploma, Diploma of Collegial Studies (undergraduate studies), Collège Jean-de-Brébeuf, Montreal, Que. 

Achievements

• 2018–Present: Henry Brent Chair in Innovative Pediatric Ophthalmology-   SickKids Foundation Program. The Hospital for Sick Children. 
• 2017–Present: Scientific, Medical and Ethical Advisory Board (SMEAB), European Networks for Rare Diseases (ERNs). 
• 2015/8: Franceschetti Medal. International Society of Genetic Eye Disease and Retinoblastoma. 
• 2009/12: Scientific Advisory Board Distinguished Service Award Foundation Fighting Blindness, Canada. 
• 2009–Present: Director, Ocular Genetics Program. The Hospital for Sick Children.  
• 2006–2018: Mira Godard Chair in Vision Research. The Hospital for Sick Children. 
• 2005/1: Achievement Award for Work on Cataracts & Glaucoma. Brandan's Eye Research Fund.

1. Anjali Vig, James A. Poulter, Daniele Ottaviani, Erika Tavares, Katerina Toropova, Anna Maria Tracewska, Antonio Mollica, Jasmine Kang, Oshini Kehelwathugoda, Tara Paton, Jason T. Maynes, Gabrielle Wheway, Gavin Arno, Genomics England Research Consortium, Kamron N Khan, Martin McKibbin, Carmel Toomes, Manir Ali, Matteo Di Scipio, Shuning Li, Jamie Ellingford, Graeme Black, Andrew Webster, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Ajoy Vincent, Michael E. Cheetham , Chris F. Inglehearn, Anthony Roberts, Elise Heon. DYNC2H1 hypomorphic or retina-predominant variants cause non-syndromic retinal degeneration. Genetics in Medicine (2020, in press). 
2. Di Scipio M, Tavares E, Deshmukh S, Audo I,  Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Yu Tang C, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson M, Zeitz C,  Héon E, Vincent A. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization. Invest Ophthalmol Vis Sci (2020, in press). 
3. Garafalo AV, Cideciyan AV, Héon E, Sheplock R, Pearson A, WeiYang Yu C, Sumaroka A, Aguirre GD, Jacobson SG. Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives. Prog Retin Eye Res. 2019 Dec 30;:100827. doi: 10.1016/j.preteyeres.2019.100827. [Epub ahead of print] Review. PubMed PMID: 31899291. 
4. Tavares E, Tang CY, Vig A, Li S, Billingsley G, Sung W, Vincent A, Thiruvahindrapuram B, Héon E. Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. Mol Genet Genomic Med. 2019 Feb;7(2):e00521. doi: 10.1002/mgg3.521. Epub 2018 Nov 28. PubMed PMID: 30484961; PubMed Central PMCID: PMC6393654. 
5. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC.Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. doi: 10.1093/hmg/ddw096. Epub 2016 Mar 22.PMID: 27008867. 

See a full list of Elise Heon's publications