2021 Meeting: The Genetics of Ocular Development (GoOD) Society

Programme: Third GoOD Meeting 2021

Friday, October 8, 2021

10 am – 6 pm CEST

(9 am – 5 pm GMT)

Host: Carmen Ayuso& Marta Corton (virtually in Madrid)

Co-organisers: Nicola Ragge, Patrick Calvas, Nicolas Chassaing

10:00 - 10:10

INTRODUCTION (9:00-9:10 BST)

10:10 - 11:30

SESSION 1 - DEVELOPMENTAL EYE DISORDERS: OVERVIEW, DIAGNOSIS AND PATHWAYS

10:10 (10’+2’)

First evidence of the role of SOX2 in a cohort of 96 patients with Peters' anomaly. Bertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, JacminePechmeja,Vincent Soler, Bertrand Isidor, Mathilde Nizon, Hélène Dollfus, Josseline Kaplan, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel, Marlène Rio, Tania Attie-Bitach, Cécile Lesage, Dominique Thouvenin, Godelieve Morel, Catherine Vincent-Delorme, Odile Boute, ClémenceVanlerberghe, Anne Dieux, Simon Boussion, Laurence Faivre, Lucile Pinson, Fanny Laffargue, Gwenaël Le Guyader, Guylène Le Meur, Fabienne Prieur, Victor Lambert, Beatrice Laudier, Carmen Ayuso, Marta Corton, Lucas Fares-Taie, Jean-Michel Rozet, Véronique Gaston, Claire Jeanton-Scaramouche, Delphine Dupin-Deguine, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié.

CHU Toulouse, INSERM UMR 1056, Toulouse, France

10:22 (10’+2’)

Overview of Structural Eye Disease diagnostic gene variants in the DDD subcohort of individuals with developmental ocular anomalies (CAP study)

Dorine Bax*, Lidiya Talbot*, Fabiola Ceroni, Yesim Kesim, Richard Holt, Nicola Ragge

Oxford Brookes University, Oxford, UK / Birmingham Women’s and Children’s NHS Foundation Trust

10:34 (10’+2’)

Clinical and genetic analysis of new cases provides further understanding of SHH pathway associated disorders

Yesim Kesim, Lidiya Talbot, Fabiola Ceroni, Richard Holt, Dorine Bax, Cheryl Longman, Shane McKee, DraganaJosifova, Pradeep Vasudevan, Nicola Ragge

Oxford Brookes University, Oxford, UK / Birmingham Women’s and Children’s NHS Foundation Trust

10:46 (18’+2’)

Variants in the nuclear retinoic acid receptors RARa and RARbconfirm a phenotypic spectrum of syndromic developmental eye disorders

Richard J. Holt, Fabiola Ceroni, Dorine Bax, Lidiya Talboot, Frances Elmslie, Katherine Lachlan, Emma Wakeling, Astrid Weber, Jacques L Michaud, Nicola K Ragge

Oxford Brookes University, UK &CHU Sainte-Justine Research Center. Montréal, Canada

11:10(8’+2’)

Long-read whole genome sequencing reveals the first cryptic PAX6 inversion causing aniridia

Alejandra Damián, Alejandra Tamayo, Gonzalo Núñez-Moreno, Pablo Mínguez, Carmen Ayuso, Marta Corton

IIS-Fundación Jiménez Díaz University Hospital- CIBERER, Madrid, Spain

11:20(8’+2’)

Poretti-Boltshauser syndrome: a rare cause of (extremely) high myopia.

Mary van Schooneveld. The Bartiméus Zeist, the Netherlands.

11:30–12:00

COFFEE BREAK / CHAT SESSION

12:00 - 13:15

SESSION 2 - MODELLING EYE DISORDERS

12:00 (10’+2’)

Functional characterization of potentially spliceogenic variants in aniridia by minigenes and ex-vivo approaches.

Alejandra Tamayo, MariaTarilonte, Gonzalo Núñez, Carolina Ruiz, Cristina Villaverde, Jennifer Moya, Patricia Ramos, Saoud T Swafiri, Fiona Blanco-Kelly, Pablo Mínguez,Carmen Ayuso, Marta Corton

IIS-Fundación Jiménez Díaz University Hospital- CIBERER, Madrid, Spain

12:12 (10’+2’)

CRISPR-Cas9-mediated functional dissection of the zebrafish foxc1 regulatory landscape identifies critical conserved regions with a probable role in human disease

Jesús J. Ferre Fernández, SanaaMuheisen, Samuel Thompson, Elena V. Semina

Medical College of Wisconsin, Milwaukee, WI, USA.

12:24 (10’+2’)

Gene expression profiling of zebrafish mab21l2u517 mutants during the optic vesicle to optic cup transition

Cristian Sobarzo, Camila Weiss-Garrido, Stephen S Carter, Lisa Tucker, Joaquin Letelier, Juan-Ramón Martinez-Morales, Gaia Gestri, Stephen W Wilson, Leonardo E Valdivia

Universidad Mayor, Santiago, Chile

12:36 (10’+2’)

Retinal coloboma in yapnl13 mutants is due to reduced RPE contractility

NiccoloFioritti, Giulia Cazzagon, Lisa Tucker, Masa Tada, Alex Nechiporuk, Stephen W. Wilson*, Gaia Gestri*

University College of London, UK

12:48(10’+2’)

Crosstalk between mechanical cues and Notch-dependent gene expression in retinal development.

Cerys S Manning. University of Manchester, UK

13:00 (10’+2’)

Genetically engineered pluripotent stem cell retinal organoids mimic retinoblastoma development.

Agata Rozanska, Rodrigo Cerna-Chavez, Rachel Queen, Joseph Collin, Darin Zerti, BirtheDorgau, Chia Beh, Tracey Davey, Jonathan Coxhead, Rafiqul Hussain, Jumana Al-Aama, David H Steel, Nissim Benvenisty, Lyle Armstrong, Manoj Parulekar, Majlinda Lako. Biosciences Institute, Newcastle, UK.

13:15–14:15

LUNCH & CHAT

14:15 - 15:40

SESSION 3 – RETINAL DISEASES & GENE TERAPHY

14:15 (10’+2’)

Clinical and genetic findings in TRPM1-associated congenital stationary night blindness. Christos Iosifidis, Jingshu Liu, Theodora Gale, Jamie Ellingford, Christopher Campbell, Kate Chandler, Neil R. Parry, Graeme C. Black, Panagiotis I. Sergouniotis

University of Manchester, UK

14:27 (8’+2’)

Development of a next-generation genetic testing system to detect copy number variants and gene variants associated with Inherited Retinal Dystrophy.

Jacqueline Chan, Christina Taylor, Stephanie Carpenter, Jolyon Holdstock, James Reid, VenuPullabhatla, Ewa Marek, MiwakoOsawa, Hiroko Sato, TakanoriWashio, HayatoNiiro, Akiko Maeda, Graham Speight

OGT, Oxford, UK

14:37 (8’+2’)

AAV-sponge mediated downregulation of miR-181a/b exerts a gene-independent protection on photoreceptors degeneration in inherited retinal dystrophies.

Martina Di Guida, Irene Guadagnino, MariateresaPizzo, Marta Molinari, Sabrina Carrella, Sandro Banfi

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy

14:49(10’+2’)

Functional annotation of the North Carolina macular dystrophy loci implicates non-coding sequence and structural variants in influencing retinal enhancers.

Stijn Van de Sompele, Eva D'haene, BurcuMunevverCicekdal, Sarah Vergult, Thijs Van der Snickt, Fadi S. Shaya, Kris Vleminckx, Petra Liskova, Kent W. Small, Elfride De Baere

Ghent University Hospital, Ghent, Belgium

15:01(10’+2’)

Interaction map of cis-regulatory elements controlling ABCA4 in human retina.

Soraya Kalayanamontri. Universidad Pablo de Olavide, Sevilla, Spain

15:13(10’+2’)

Investigating photoreceptor glycan-binding proteins to assist gene therapy.

Cécile Méjécase, LyesToualbi, MariyaMoosajee

University College of London, UK

15:25 (10’+2’)

miR-181a/b modulation as potential therapeutic approach for AMD treatment

Simona Brillante, Eva Cipollaro, Marta Molinari, Sandro Banfi,AlessiaIndrieri, Sabrina Carrella.

Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy

15:40–15:55

TEA BREAK & CHAT

15:55–16:00

INTRODUCTION TO GUEST SPEAKER

16:00 –16:45

SESSION 3 – INVITED LECTURE BY

PR. JEAN-MICHEL ROZET

"Therapeutic approaches to inherited retinal disorders"

French National Institute for Health and Medical Research (INSERM)

Head of the Laboratory Genetics in Ophthalmology - IMAGINE Institute Paris, France.

16:45

GoOD SOCIETY BUSINESS MEETING