Programme: 4th GoOD Meeting 2023

4th/5th May 2023, Hotel Dieu, Toulouse

Thursday 4 May 9.00-16.45 CET (gala dinner from 19.30 CET)

Friday 5 May 9.00-15.00 CET 

Host Organisers:

Professor Patrick Calvas, Dr Nicolas Chassaing, and Dr Julie Plaisancié

Centre de Référence des Anomalies Rares en Génétique Ophtalmologique (CARGO), Laboratoire de Biologie Médicale de Référence « affections de la croissance et du développement oculaire », et service de Génétique Médicale, CHU Toulouse, Toulouse, France 

Co-organiser:

Professor Nicola Ragge MD FRCP FRCPCH FRCOphth FRSB

Oxford Brookes University, Oxford and Consultant Clinical Geneticist, Birmingham Women’s and Children’s NHS Foundation Hospital Trust, Birmingham

DAY 1 THURSDAY 4TH MAY, 2023

09:00 - 09:30  COFFEE and PASTRIES

09:30 - 09:40  WELCOME

 09:40 - 11:00 SESSION 1 - DEVELOPMENTAL EYE DISORDERS: GENOTYPES AND PHENOTYPES Moderators: Richard Holt, Jacques Michaud

Characterising GJA8-related developmental eye phenotypes with a multicenter study of new families. Solomon Merepa, Linda M Reis, Alejandra Damian, Tanya Bardakjian, Adele Schneider, María Jose Trujillo-Tiebas, Carmen Ayuso, Laura Cortázar Galarza, Raquel Saenz Villaverde, Nelmar Valentina Ortiz-Cabrera, Dorine Bax, Richard Holt, Patrick Edery, Nicolas Chassaing, Marta Corton, Elena V Semina, Nicola K Ragge. Oxford Brookes University, Oxford, UK

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations. Julie Plaisancié, Jelena Martinovic, Bertrand Chesneau, Sandra Whalen, Diana Rodriguez, Séverine Audebert-Bellanger, Pauline Marzin, Sarah Grotto, Isabelle Perthus, Richard Holt, Dorine Bax, Nicola K Ragge, Nicolas Chassaing. CHU Toulouse, Toulouse, France & Oxford Brookes University, Oxford, UK

Developmental eye disorders in a West African population, Ghana: the case for genetic testing services. Vera Adobea Essuman, Vera Beyuo, Benjamin Abaidoo, Abigail Nyarko Bosomtwe. University of Ghana Medical School, Accra, Ghana

Long-read sequencing for improving the characterization of rare inherited eye diseases. Cristina Rodilla, Alejandra Damián, Gonzalo Nuñez Moreno, Irene Perea-Romero, Marta Del Pozo-Valero, Lidia Fernández-Caballero, Marta Rodriguez de Alba, Inmaculada Martin Merida, Almudena Avila Fernández, Gema García-García, Belén García-Bohórquez, Pilar Barberán-Martínez, Marc Delépine, Claire Jubin, Cédric Fund, Aurélie Leduc, Jean-François Deleuze, Pablo Mínguez, José María Millán, Marta Corton, Carmen Ayuso. Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain

Non syndromic high myopia due to LRP2 variants? Anneke Kievit, Alberta Thiadens, Marianne van Tienhoven, Virginie Verhoeven, Lies Hoefsloot. Erasmus Medical Centre, Rotterdam, The Netherlands

STAG2-associated cohesinopathy: expansion of the phenotype to include developmental eye anomalies. Lidiya Talbot, Solomon Merepa, Richard Holt, Dorine A Bax, Fiona Watkins, Nicola K Ragge. Oxford Brookes University, Oxford, UK

11:00 - 11:15  COFFEE BREAK

11:15 - 11:50 SESSION 2 - DEVELOPMENTAL EYE DISORDERS: NEW GENE ASSOCIATIONS AND PHENOTYPES IN SYNDROMES Moderators: Veronica van Heyningen, Julie Plaisancié

Bi-allelic variants in WNT7B disrupt ocular, pulmonary, tracheal, cardiac and renal development in humans. Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Júlia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G. Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O. Khan, Fadi H. Hamdan, Robyn V. Jamieson, Fowzan S. Alkuraya, Jacques L. Michaud, Nicolas Chassaing. CHU Toulouse, Toulouse, France

RARB-related disorders: towards a natural history study. Jacques Michaud. CHU Sainte-Justine, Montreal, Canada

11:50 - 12:30 PERSPECTIVE: GUEST SPEAKER

A personal view of fortunes and setbacks of ophthalmic genetics. Patrick Calvas. CHU Toulouse, Toulouse, France

12:30 - 14:00  LUNCH BREAK

14:00 - 15:40 SESSION 3 – RETINAL DISEASES Moderators: Isabelle Perrault, Jérôme Roger

Genetic complexity of inherited retinal diseases in a large Italian cohort. Marianthi Karali, Francesco Testa, Valentina Di Iorio, Annalaura Torella, Roberta Zeuli, Margherita Scarpato, Francesca Romano, Maria Elena Onore, Mariateresa Pizzo, Paolo Melillo, Raffaella Brunetti-Pierri, Ilaria Passerini, Elisabetta Pelo, Frans P. M. Cremers, Gabriella Esposito, Vincenzo Nigro, Francesca Simonelli and Sandro Banfi. Università degli Studi della Campania ’Luigi Vanvitelli’, Naples, Italy

Inherited Retinal Dystrophies as a paradigm of rare diseases. Three decades of clinical and genetic epidemiological study in Spain. Lidia Fernández-Caballero*, Irene Perea-Romero*, Ionut F Iancu, Cristina Rodilla, Inmaculada Martín-Mérida, Almudena Ávila-Fernández, Ana Isabel Sánchez, Fiona Blanco-Kelly, Marta del Pozo, Pablo Mínguez, JM Millan, Pilar Martín-Gutiérrez, Belén Jiménez-Rolando, Ester Carreño, Blanca García-Sandoval, Marta Cortón, Carmen Ayuso. Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain

Four unique genetic variants account for 62.7% of pediatric retinal blindness in Chile. René Moya*, Clementine Angee*, Sylvain Hanein, Fabienne Jabot-Hanin, Josseline Kaplan, Isabelle Perrault, Jean-Michel Rozet and Lucas Fares-Taie. Institut Imagine, Paris, France

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum. Isabelle Perrault, Sabrina Mechaussier, Daniel O Dodd, Patricia L Yeyati, Fraser McPhie, Amelia Shoemark, Maimoona Zariwala, Marie Legendre, Lucas Fares-Taie, Josseline Kaplan, Maria Descartes, Ethylin W Jabs, Jeanne Amiel, Jean-Michel Rozet, Pleasantine Mill. Institut Imagine, Paris, France

15:00 - 15:30 COFFEE BREAK

15:30 - 16:30 GUEST SPEAKERS

Retinal stem cells: the drivers and barriers of retinal regeneration. Muriel Perron. Paris-Saclay Institute of Neuroscience, CERTO-Retina France, CNRS, Université Paris-Saclay, Saclay, France

Gene therapy for CRX-associated retinopathies and beyond. Jérome Roger. Paris-Saclay Institute of Neuroscience, CERTO-Retina France, CNRS, Université Paris-Saclay, Saclay, France

16:30 WALK IN TOULOUSE

18:45  APERITIF HOTEL DIEU

19:30  GALA DINNER

DAY 2 FRIDAY 5TH MAY, 2023

09:00 - 09:30  COFFEE and PASTRIES

09:30 - 10:45 SESSION 1 - DEVELOPMENTAL EYE DISORDERS: NEW GENES/MECHANISMS Moderators: Nicolas Chassaing, Nicola Ragge

Screening of individuals with developmental eye anomalies demonstrates the role of zinc-finger homeobox 4 (ZFHX4) single nucleotide variants in syndromic anterior segment dysgenesis. Richard J Holt, Hande Tunbak, Mahum Shaikh, Fabiola Ceroni, Dorine Bax, Gaia Gestri, Steve W Wilson, Nicola K Ragge. Oxford Brookes University, Oxford UK & University College London, London, UK

A non-coding FOXE3 variant in complex microphthalmia. Julie Plaisancié, Clémentine Angée, Isabelle Raymond-Letron, Jean-Yves Douet, Mathilde Goetz, Catherine Vincent-Delorme, Ino Karemaker, Marijke Baltissen, Leonardo Valdivia, Jean-Michel Rozet, Yanad Abou Monsef, Faouzi Lyazrhi, Patrick Calvas, Nicolas Chassaing, Lucas Fares-Taie. CHU Toulouse, Toulouse, France and Institut Imagine, Paris, UK

Understanding the mechanisms underlying ectopic expression of Sox21 in Congenital Microcoria. Clementine Angee, Elisa Erjavec , Brigitte Nedelec, Pierre David , Sophie Creuzet, Djihad Hadjadj, Sylvain Crippa, Bruno Passet, Jean-Luc Vilotte, Nicolas Chassaing, Josseline Kaplan, Corinne Kostic, Patrick Calvas, Jean-Michel Rozet, Lucas Fares-Taie. Institut Imagine, Paris, France

A transcriptomic analysis to identify novel genes involved in high acuity area formation in the zebrafish. Clinton Monfries, Gaia Gestri, Florencia Cavodeassi. St George's, University of London, London, UK

10:45 - 11:05  COFFEE BREAK

11:05 - 12:15 SESSION 2 - DEVELOPMENTAL EYE DISORDERS: USE OF DIFFERENT METHODOLOGY Moderators: Patrick Calvas, Jean-Michel Rozet

A rare mosaic variant in the RASopathy gene KRAS in an individual with microphthalmia and coloboma strengthens the link between Ras/MAPK signalling and developmental eye anomalies. Fabiola Ceroni, Karthikah Jeganathan, Dorine A Bax, Lidiya Talbot, Yesim Kesim, Richard J Holt, Nicola K Ragge. Oxford Brookes University, Oxford, UK

Use of Optical Genome Mapping to detect a second variant in an individual with ALDH1A3-related developmental eye disorder. Richard Holt, Yesim Kesim, Bertrand Chesneau, Lidiya Talbot, Solomon Merepa, Karthikah Jeganathan, Fiona Watkins, Dorine Bax, Nicolas Chassaing, Julie Plaisancié, Nicola K Ragge. Oxford Brookes University, Oxford, UK

Characterization of a complex rare structural variant in chromosome 10 using optical genome mapping reveals potential disruption of retinoic acid metabolism in two unrelated families with developmental eye anomalies. Bertrand Chesneau, Solomon Merepa, Karthikah Jeganathan, Fabiola Ceroni, Yesim Kesim, Fiona Watkins, Dorine A Bax, Richard Holt, Nicola K Ragge. CHU Toulouse, Toulouse, France & Oxford Brookes University, Oxford, UK

Value of Genome Sequencing in ocular developmental defects. Nicolas Chassaing, Bertrand Chesneau, Julie Plaisancié. CHU Toulouse, Toulouse, France

12:30 - 14:00  LUNCH BREAK

14:00 - 14:30  GoOD NETWORK and CASES

Short communications (max 5’) in order to share and discuss an unusual clinical presentation, a difficult to interpret variant or a call for collaboration. (please come and upload your presentation during lunch)

Update on GoOD Network

14:30 - 15:00  GUEST LECTURE

A broad spectrum of mutational mechanisms lead to developmental eye disease. Veronica van Heyningen. University of Edinburgh, Edinburgh, UK  & University College London, London, UK

15:00 END OF MEETING