Registration

You can register for the meeting and gala dinner through Eventbrite

Early bird registration fees (until 31 August 2026):
general delegates CA$283.50 (members), CA$472.50 (non-members)
students:  CA$94.50 (student members),   CA$189.00 (non-members)

gala dinner: CA$152.25

Annual GoOD Meeting membership is open to everyone. For those attending this year’s meeting in Montreal, please join to take advantage of the special Members’ reduced rate for attending the meeting by following the link here

Programme

MONDAY

08:15–09:00 — ACCUEIL & COFFEE

09:00–09:15 — WELCOME / INTRODUCTION Nicky Ragge – Jacques Michaud

09:15–10:15 — SESSION 1 — OCULAR DEVELOPMENT, MICROPHALMIA & COLOBOMA: NEW GENES, NEW MUTATIONS

Moderators: Elena Semina – Julie Plaisancié

(10’+2’) Anophthalmia–Microphthalmia: Evolution of Genotype–Phenotype Profiles Over Time — Comparison of Two Cohorts (1990–2013 vs. 2019–2026). Nicolas Chassaing, Bertrand Chesneau, Patrick Calvas, Julie Plaisancié. CHU de Toulouse, Université de Toulouse, Toulouse, France

(10’+2’) A novel de novo CSE1L missense variant in an individual with unilateral microphthalmia and coloboma. Richard James Holt, Solomon Merepa, Dorine A Bax, Nicola K Ragge. Faculty of Health, Science and Technology, Oxford Brookes University, UK

(10’+2’) A de novo variant in PYGO2 in an individual with bilateral anophthalmia, kidney and heart defects highlights a new candidate gene for structural eye anomalies. Fabiola Ceroni, Dorine A Bax, Nicola K Ragge. Faculty of Health, Science and Technology, Oxford Brookes University, UK

(10’+2’) Confirming the role of biallelic VAX1 variants in syndromic microphthalmia: clinical and molecular insights from a second individual. Bertrand Chesneau, Ebtesam Abdalla, Ibrahim Abdelrazek, Véronique Gaston, Julie Plaisancie, Nicolas Chassaing. CHU de Toulouse, Université de Toulouse, Toulouse, France

(10’+2’) Enhancing the molecular diagnosis of congenital anophthalmia and microphthalmia: Improvements in pathogenic variant interpretation, novel gene discovery, and functional validation in zebrafish. Mara Maftei, Lucas Spink, Oliwia Sawicz, Simona Mrstakova, Robin Hayes, Lean Abahreh, Aitor Bañon, Katherine Cid, Tarini Puri, Jing Yu, Gavin Arno, Rodrigo M. Young. Institute of Ophthalmology, University College London, London

10:15–10:45 — COFFEE BREAK

10:45–11:20— SESSION 2 — RETINAL GENETICS 1: NEW GENES, VARIANT CHARACTERIZATION & THERAPEUTIC APPROACHES

 Moderators: Elfride de Baere – Isabelle Perrault

(10’+2’) BAIAP3 as candidate gene for early-onset and severe retinal dystrophy. Isabelle Perrault, Gabriel Karrillon, Emma Redier, Zoéline Mars, Andrea Zanetti, Ikram Bouacha-Allou, Sabine Defoort-Delhemmes, Vasili Smirnov, Sonja M. Wojcik, Jean-Michel Rozet. Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France

(10’+2’) A synonymous variant in the CHM gene creates a binding site for a splice suppressor. Ian M MacDonald, Nicol San Juan, Alina Radziwon. University of Montreal Department of Ophthalmology; University of Alberta Department of Ophthalmology and Visual Sciences, Canada

(10’+2’) AAV-CRX restores photoreceptor maturation programs and provides a mutation-independent therapeutic strategy for inherited retinal diseases. Jean-Michel Rozet, Elodie Grellier, Alejandro Estrada-Cuzcano, Sophie Lourdel, Isabelle Perrault, Jérôme Roger. Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Cité University, Paris, France

11:20–12:05 — GUEST SPEAKER —The Genetics of Uveal Coloboma: From Bench to Bedside and Back. BRIAN BROOKS. Chief, Ophthalmic Genetics & Visual Function Branch National Eye Institute, NIH

12:05–13:30 — LUNCH

13:30–14:10 — SESSION 3 — OCULAR GENETICS: INHERITANCE, GENOTYPE–PHENOTYPE & FUNCTIONAL STUDIES

Moderators: Jacques Michaud – Nicolas Chassaing

(10’+2’) Hiding in plain sight: in silico tools uncover splice-altering variants in developmental eye anomalies. Karthikah Jeganathan, Fabiola Ceroni, Richard J Holt, Dorine A Bax, Nicola K Ragge. Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK

(10’+2’) Functional characterisation of FZD5 variants associated with ocular malformations. Marina Adjei, Paris Ataliotis, Christopher Carroll, Alan Pittman, Florencia Cavodeassi. School of Health and Medical Sciences, City St George’s, University of London, London, UK

(10’+2’) Natural history of RARB-related disorders. Jacques Michaud. CHU Sainte-Justine Azrieli Research Center, Montreal (QC), H3T 1C5, Canada.

14:10–15:00 — SESSION 4 — RETINAL GENETICS 2: NEW GENES, NEW MUTATIONS

Moderators: - Stijn Van de Sompele – Jean-Michel Rozet

(10’+2’) Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis Zoéline Mars, Andrea Zanetti, Karolina Kaminska, Takero Miyagawa, Duanya Liu, Aline Antonio, Gavin Arno, Isabelle Audo, Carmen Ayuso, Hafiz Muhammad Jafar Hussain, Xuan Bao, Pilar Barberán-Martínez, Béatrice Bocquet, Anna Boguszewska-Chachulska, Christel Condroyer, Hélène Dollfus, Lidia Fernández-Caballero, Gema García-García, Line Kessel, Siying Lin, Ewa Matczynska, Jose M. Millán, Abigail R. Moye, M Pilar Martín-Gutiérrez, Mathieu Quinodoz, Matthieu P. Robert, Jerome E. Roger, Saoud Tahsin Swafiri, Slawomir Teper, Isabelle Meunier, Olivier Patat, Mark E. Pennesi, Karin A.W. Wadt, Meng Wang, Andrew R. Webster, Paul Yang, Li Yumei, Christina Zeitz, Stéphane Giraudier, Rui Chen, Sebastian M. Fica, Carlo Rivolta, Marie Sebert, Jean-Michel Rozet, Isabelle Perrault. Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.

(10’+2’) Whole gene sequencing identifies non-coding variants and CNV in NMNAT1. Matthieu Mantecon, Andrea Zanetti, Sylvain Hanein, Isabelle Audo, Carmen Ayuso, Mar Balanza Rodriguez, Béatrice Bocquet, Cyril Burin des Roziers, Elfride DeBaere, Hélène Dollfus, Olivier Grunewald, Djihad Hadjadj, Fabienne Jabot-Hanin, Susanne Kolh, Stanislas Lyonnet, Isabelle Meunier, José M. Millan, Matthieu P. Robert, Vasily Smirnov, Viktoria Szabo, Sophie Valleix, Lasse Wolfram, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet, Isabelle Perrault. Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France

(10’+2’) Long-read genomics and transcriptomics resolving undiagnosed inherited eye diseases: from structural variant to splicing and haplotype resolution. Stijn Van de Sompele, Marieke De Bruyne, Brecht Guillemyn, Bram Parton, Mattias Van Heetvelde, Lieselot Vincke, Eva D’haene, Nelson Lima Martins, Marta Del Pozo Valero, Sascha Vermeer, Nathalie Veyt, Ingele Casteels, Audrey Meunier, Irina Balikova, Filip Van den Broeck, Joke Ruys, Julie De Zaeytijd, Bart P. Leroy, Miriam Bauwens, Elfride De Baere. Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.

(10’+2’) Severe Photoreceptor Dysmorphology and Visual Function Loss in the Larval Zebrafish Suggests a Developmental Origin for Usher Syndrome Type 1F Retinopathy. Paul W. Chrystal, Lisa Kuzmanova, Jingpin Liu, Ishmael Majeed, Qian Lin, Vincent Tropepe. Department of Cell & Systems Biology, 2Department of Ophthalmology & Vision Sciences, University of Toronto, Toronto, ON, Canada.

15:00–15:30 — COFFEE BREAK

15:30–16:15 — GUEST SPEAKER — Building and rebuilding the retina. MICHEL CAYOUETTE. Montreal Clinical Research Institute (IRCM), Montreal, QC

18:00 — NETWORKING EVENT and GALA DINNER

TUESDAY

08:30–09:30 — ACCUEIL & COFFEE

09:30–10:45 — SESSION 5 — MODELLING OCULAR DEVELOPMENT & RETINAL DISEASE

Moderators: Florencia Cavodeassi – Bertrand Chesneau

(10’+2’) Deciphering the role of an ultraconserved non-coding element in the IRXA cluster using a retinal organoid model of North Carolina Macular Dystrophy. Lieselot Vincke, Stijn Van de Sompele, Valerie Wenzel, Burcu M Çiçekdal, Mattias Van Heetvelde, Christina Kiel, Bernhard H Weber, Miriam Bauwens, Elfride De Baere. Department of Biomolecular Medicine, Universiteit Gent, Ghent, Belgium

(10’+2’) Developing a PRISM: Patient-derived Rare Inherited disease Screening using organoid Models. Timothy Blenkinsop. Icahn School of Medicine at Mount Sinai, New York, USA

(10’+2’) Zebrafish models of foveal hypoplasia allow the identification of novel genes involved in fovea formation. Jack Nicholls, Clinton Monfries, Marehiko Kondo, Marina Adjei, Alan Pittman, Gaia Gestri, Florencia Cavodeassi. School of Health and Medical Sciences, City St George’s, University of London, London, UK

(10’+2’) ZFHX4 and structural eye disorders: two new cases and further evidence from zebrafish models. Richard James Holt, Megan C Fischer, Mahum Shaikh, Ross Collery, Karthikah Jeganathan, Elena I Dragomir, Samuel Thompson, Dorine A Bax, David Verity, Eleanor Hay, Alice Gardham, Vincent Michaud, Bertrand Chesneau, Stephen W Wilson, Gaia Gestri, Elena V Semina, Nicola K Ragge. Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK

(10’+2’) Zebrafish models of stra6 deficiency demonstrate small eyes and cardiac defects. Tien Le, Allison L. Hall, Supriya Sharma, Ajay Verma, Ross Collery, Anne Slavotinek. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH

(10’+2’) Understanding ocular phenotypes through the lens of wnt2ba/wnt2bb in zebrafish. Ajay Deepak Verma, Logan Bien, Iris Katz, Lama Al-Abdi, Fowzan Alkuraya, Anne Slavotinek Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Medical Center, Cincinnati, OH

10:45–11:15 — COFFEE BREAK

11:15–12:00 — GUEST SPEAKER — About the spectrum of severity. ELISE HEON. The Hospital for Sick Children, Toronto ; University of Toronto, Toronto

12:00–12:30 — GoOD NETWORK MEETING

12:30 — LUNCH / END OF THE MEETING