Faculty profile

Elise Heon

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ProfessorDepartment of OphthalmologyUniversity of Toronto

Elise Heon

Professor

Department of Ophthalmology

University of Toronto

Toronto, Ontario, Canada

Supervision signals

Professors usually supervise graduate students in their department's programs.
24 publications in the last five years, latest in 2026.
Senior (last) author on 3 recent papers, a sign of leading a research group.
Principal investigator on 1 research grant (1 CIHR), most recently in 2008.

These signals come from public records, including federal and provincial funding decisions. Ask the professor or the graduate program whether they are taking new students.

Academic metrics

Publications

394

Citations

Collaborators

Grants

Publications by year

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Signals and details

Research

Read how they describe their research on their University of Toronto profile.

Latest papers

A novel phenotype-guided genome analysis pipeline for variant discovery.
NPJ genomic medicine · 2026
Voretigene Neparvovec (Luxturna) for Biallelic RPE65–Associated Retinal Dystrophy: Systematic Review
American Journal of Ophthalmology · 2026
Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics
Journal of Clinical Investigation · 2026

All 51 publications

Latest funding

Hub for integrated structural and functional assessment of retinal disease and therapeutic development
CFI · 2023 · Co-investigator
$2,525,271
Sensory Cilia Mutations Affecting Motile Cilia in Ciliopathy Disorders
CIHR · 2017 · Co-investigator
$75,000
The cellular mechanisms underlying sensory motile ciliopathies
CIHR · 2017 · Co-investigator
$650,250

All 8 grants and awards

51 publications.

A novel phenotype-guided genome analysis pipeline for variant discovery.

Ahmed L, Tavares E, Li JM, Ahmed K, Mehta M, Eileen C, Ah-Sen G, Osman R, Green-Sanderson K, Dvaladze A, Nimmo G, Deshwar AR, Paton T, Casallo G, Marshall CR, Heon E, Vincent A

NPJ genomic medicine20261 citationsOpen Access

DOI: 10.1038/s41525-026-00557-0 PMID: 41904215

Voretigene Neparvovec (Luxturna) for Biallelic RPE65–Associated Retinal Dystrophy: Systematic Review

Abu Bakar Butt, Michele Zaman, Andrew Mihalache, Sara KamaliZonouzi, Parsa Babaei Zadeh, Yaksh R. Shah, Marko M. Popovic, Peter J. Kertes, Brian G. Ballios, Ajoy Vincent, Élise Héon, Rajeev H. Muni, Radha P. Kohly

American Journal of Ophthalmology2026

DOI: 10.1016/j.ajo.2026.08.043 PMID: 42674265

Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics

Yang Wu, Erika Sendra Tavares, Binrun Liang, W B Wee, V. Mennella, Han-Chao Feng, Jiaying Cao, Pui Yee Wong, Jiayi Zheng, Mu He, Kirk AJ Stephenson, Liran Hanan Hochma, Juqiang Li, Nan‐Peng Chen, Sharon Dell, Elise Heon, ZHEN LIU

Journal of Clinical Investigation2026Open Access

DOI: 10.1172/jci193367 PMID: 41915430

An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition.

Jha V, Tsetsos C, Bedford M, Costain G, Vohra S, Diaz Martinez JP, Heon E, Vorstman J, Gorodetsky C, Vincent A, Rapley J, Anderson L, Anagnostou E, Baribeau DA

Epilepsia2026Open Access

DOI: 10.1002/epi.70253 PMID: 41999155

Broadening the phenotypic and molecular spectrum of PRS deficiency in females.

Braid T, Scholten S, Yoganathan S, Alsalamah AK, Deschênes D, Deslongchamps G, Goobie S, Heon E, Tein I, Deshwar AR

HGG advances2026

DOI: 10.1016/j.xhgg.2026.100601 PMID: 41928471

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

Heath Jeffery RC, Thompson JA, Lo J, Vincent AL, Patil M, Bianco L, Battaglia Parodi M, Ziccardi L, Dell'Aquila C, Barbano L, Tang WC, Chan CM, Boon CJF, Hensman J, Chen TC, Lin CY, Chen PL, Vincent A, Tumber A, Heon E, Grigg JR, Jamieson RV, Cornish EE, Nash BM, Chou J, Lamey TM, McLenachan S, Roshandel D, Fujinami K, Chelva E, McLaren TL, Chen FK

Investigative ophthalmology & visual science2026

DOI: 10.1167/iovs.67.4.29 PMID: 41979252

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

Igelman AD, White E, Tayyib A, Everett L, Vincent A, Heon E, Zeitz C, Michaelides M, Mahroo OA, Katta M, Webster A, Preising M, Lorenz B, Khateb S, Banin E, Sharon D, Luski S, Van Den Broeck F, Leroy BP, De Baere E, Walraedt S, Stingl K, Kuehlewein L, Kohl S, Reith M, Fulton A, Raghuram A, Meunier I, Dollfus H, Aleman TS, Bedoukian EC, O'Neil EC, Krauss E, Vincent A, Jordan C, Iannaccone A, Sen P, Sundaramurthy S, Nagasamy S, Balikova I, Casteels I, Borooah S, Yassin S, Nagiel A, Schwartz H, Zanlonghi X, Gottlob I, McLean RJ, Munier FL, Stephenson A, Sisk R, Koenekoop R, Wilson LB, Fredrick D, Choi D, Yang P, Pennesi ME

The British journal of ophthalmology20257 citationsOpen Access

DOI: 10.1136/bjo-2023-323747 PMID: 39079892

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Khan K, Tavares E, Bishara K, Ozanturk A, Qebibo L, Frangakis S, Calame DG, Meunier I, Bocquet B, Ploski R, Al Khateeb MA, Marafi D, Mansard L, Damaj L, Lewis RA, Ullah F, Arbogast T, Ogden JP, Harion M, Willems M, Zaki MS, Bartolomaeus T, Roux AF, Lupski JR, Rydzanicz M, Jamra RA, Ramond F, Heon E, Burglen L, Davis EE

Science advances20251 citationsOpen Access

DOI: 10.1126/sciadv.adw3717 PMID: 41105778

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Zaslavsky K, Tumber A, Millar E, Boginskaia O, MacDonald H, Klatt R, Ali A, Heon E, Vincent A

Investigative ophthalmology & visual science2025Open Access

DOI: 10.1167/iovs.66.15.19 PMID: 41342616

Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

Schmidt RE, Pohodich AE, Birch D, Jones K, Lam BL, Jung EH, Jain N, Georgiou M, Mahroo OA, Webster AR, Michaelides M, Bakall B, Iannaccone A, Vincent A, Parameswarappa DC, Heon E, Scholl HPN, Janeschitz-Kriegl L, Traboulsi EI, Zein W, Brooks BP, Cukras C, Hufnagel R, Aleman TS, Sylla MM, Tsang SH, Alabek M, Sahel J, Gorin MB, van Genderen MM, Stingl K, Reith M, Kohl S, Amaral RAS, Sallum JMF, Vincent AL, Hull S, Duncan JL, Hanson JVM, Tedeus M, Maggi J, Graf U, Koller S, Berger W, Gerth-Kahlert C, Marra M, Everett LA, Yang P, Pennesi ME

NPJ genomic medicine2025

DOI: 10.1038/s41525-025-00489-1 PMID: 40246852

Hub for integrated structural and functional assessment of retinal disease and therapeutic development

Co-investigatorCFI2023Innovation Fund: Innovation Fund 2023

Principal investigators: Philippe Monnier, Valerie Wallace

Keywords: Retinal degeneration, inherited retinal disease, glaucoma, macular degeneration, vision testing, regenerative medicine, stem cells, imaging, retinal organoids Imaging equipment; cellular, molecular and behavioural assessment equipment

$2,525,271

Sensory Cilia Mutations Affecting Motile Cilia in Ciliopathy Disorders

Co-investigatorCIHR2017Operating Grant: ECI grants in MRC&Y Health - Circulatory / Respiratory Health

Principal investigators: Mennella, Vito

Keywords: Cilia; Ciliopathies; Primary Ciliary Dyskinesia; Retinitis Pigmentosa; Super Resolution Imaging

$75,000

The cellular mechanisms underlying sensory motile ciliopathies

Co-investigatorCIHR2017Project Grant

Principal investigators: Mennella, Vito

Keywords: Centrosome; Cilia; Ciliopathies; Primary Ciliary Dyskinesia; Super Resolution Microscopy

$650,250

The PREDICTS Platform - PREcision Decisions In Childhood arthritis and uveitis TreatmentS

Co-investigatorCIHR2012Team Grant: Health Challenges in Chronic Inflammation Initiative (LOI)

Principal investigators: Yeung, Rae S

Keywords: Bioinformatics; Biomarkers; Childhood Arthritis; Childhood Uveitis; Computational Biology And Machine Learning; Cost-Effectiveness Analysis; Disease Taxonomy; Genomics; Health Economics; Health Technology Assessment; Immunomics; Molecular Medicine; Proteomics; Transcriptomics

$15,155

The Centre for Applied Genomics: Paediatric Genomes to Health

Co-investigatorCFI2012Innovation Fund: Leading Edge Fund (2012 competition)

Principal investigators: Scherer, Stephen

Keywords: paediatrics, genetics, translational medicine, molecular diagnostics development sequencing, genotyping, genomics, validation

$1,000,000

Investigating the Genetic Complexity of Bardet-Biedl syndrome (BBS) using the C. elegans Animal Model

Principal investigatorCIHR2008Operating Grant

Principal investigators: Zhen, Mei; Héon, Elise

Keywords: Bardet-Biedl Syndrome; C. Elegans; Ciliopathy; Cilium; Modifiers

$695,380

CIHR Training Program in Protein Folding and Interaction Dynamics: Principles and Diseases

Co-investigatorCIHR2008Training Grant

Principal investigators: Houry, Walid A; Forman-Kay, Julie D

Keywords: Absorbance; Alzheimer; Analytical Ultracentrifugation; Bacterial Infection; Bioinformatics; Cancer; Chaperones; Circular Dichroism; Computational Biology; Disease; Fluorescence; Folding; Microscopes; Misfolding; Nmr; Parkinson; Prions; Protein-Protein Interactions; Proteins; Proteomics; Training; X-Ray

$1,950,000

Canadian Genetic Diseases Network (CGDN) / Réseau Canadien de maladies génétiques

Co-investigatorNSERC2005Research Management Funds - Group

Principal investigators: Hayden, Michael

$250,000

From public funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998 with their latest competition results, the Canada Foundation for Innovation, Genome Canada, the Canadian Space Agency, Canada Research Chairs, the Fonds de recherche du Québec, Ontario research funding, Michael Smith Health Research BC, the Canadian Cancer Society, Heart & Stroke and Brain Canada.

Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.

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Elise Heon

Research

Latest papers

Latest funding

A novel phenotype-guided genome analysis pipeline for variant discovery.

Voretigene Neparvovec (Luxturna) for Biallelic RPE65–Associated Retinal Dystrophy: Systematic Review

Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics

An n-of-1 gene-directed drug repurposing trial for an ultrarare genetic condition.

Broadening the phenotypic and molecular spectrum of PRS deficiency in females.

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Variants in CFAP410 cause a range of retinal and skeletal phenotypes.

Hub for integrated structural and functional assessment of retinal disease and therapeutic development

Sensory Cilia Mutations Affecting Motile Cilia in Ciliopathy Disorders

The cellular mechanisms underlying sensory motile ciliopathies

The PREDICTS Platform - PREcision Decisions In Childhood arthritis and uveitis TreatmentS

The Centre for Applied Genomics: Paediatric Genomes to Health

Investigating the Genetic Complexity of Bardet-Biedl syndrome (BBS) using the C. elegans Animal Model

CIHR Training Program in Protein Folding and Interaction Dynamics: Principles and Diseases

Canadian Genetic Diseases Network (CGDN) / Réseau Canadien de maladies génétiques

Frequent collaborators

Ajoy Vincent

Erika Tavares

Jason Maynes

Matteo DiScipio

Lili-Naz Hazrati

Christian Marshall

Peter Kannu

Asim Ali

Arun Reginald

Grace Yoon

Greg Costain

Carolina Gorodetsky

Roberto Mendoza-Londono

Robert Koenekoop

Jacob Vorstman

Patricia Parkin

Anna Heath

Birgit Ertl-Wagner

Gregory Costain

Danielle Baribeau

Ayeshah Chaudhry

Peter Kertes

Ghislain Deslongchamps

Brenda Gallie

Andreas Schulze

Mark Tarnopolsky