2024- Oxford
Building on the success of the last four Genetics of Ocular Development (GoOD) meetings, the 2024 meeting took place from:
Monday 23rd September (arrival), with the main meeting days on the 24 - 25th September 2024 at New College, Oxford, UK.
New College, part of the University of Oxford, was founded in 1379 by William of Wykeham, Bishop of Winchester, and is steeped in historical, academic, and architectural excellence. The college was designed with cloisters and a bell tower and boasts the first enclosed quadrangle of its type, completed in 1386, with the original City Walls coursing through; all remain essential parts of college life today.
The conference itself was located in a brand new architecturally stunning building Gradel Quad, New College, Oxford located adjacent to the main part of the College, which houses a beautiful lecture hall and new en-suite accommodation available to book, right in the heart of Oxford. A formal Dinner was held in the historic dining hall at New College.
The GoOD Meeting 2024 presented a fantastic opportunity for scientists and clinicians involved in the genetic research into eye anomalies, therapeutics and patient care to hear about the developments in the field of ocular genetics, learn of the latest research findings, meet with collaborators, establish new research opportunities and collaborations.
As a highlight, we were honoured to have two highly distinguished guest speakers - Professor Cheryl Gregory-Evans, from Vancouver, who spoke on “New approaches to treat ocular developmental diseases: CRISPR and stem cell technologies.” and Professor Elfride de Baere, from Ghent, who spoke on “Multi-omics to unravel regulatory landscapes and tackle missing heritability in inherited retinal diseases.”
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Be inspired
Hear from the clinicians and scientists at the 2024 meeting
Photos 2024 meeting
Programme
DAY 1 TUESDAY 24th September, 2024
08:45 - 09:30 COFFEE and PASTRIES
09:30 - 09:40 WELCOME Nicky Ragge
09:40 - 10:45 SESSION 1 - DEVELOPMENTAL EYE DISORDERS 1: GENOTYPES AND PHENOTYPES
Moderators: Fabiola Ceroni, Patrick Calvas
(10’+3’) More than meets the eye: Loss-of-function variants in ARHGAP35. Karthikah Jeganathan, Lidiya Talbot, Solomon Merepa, Hande Tunbak, Fiona Watkins, Dorine A Bax, Nicola K Ragge. Oxford Brookes University, Oxford, UK
(10’+3’) Expanding the phenotypic spectrum associated with SMARCA4 deleterious variants to eye development anomalies. Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Hélène Dollfus, Nicolas Chassaing. CHU Toulouse, Toulouse, France
(10’+3’) The challenges in the diagnosis of ocular findings of spondylo-ocular syndrome, a rare disease. Faeeqah Almhmoudi. King Fahd Armed Forces Hospital, Jeddah, Saudi Arabia
(10’+3’) Cardiac-urogenital syndrome: a syndromic form of high hypermetropia. Hester Y Kroes, Nienke Volker-Touw, Elsbeth SM Voskuil-Kerkhof, Lonneke Haer-Wigman, Mies M van Genderen. University Medical Center Utrecht, The Netherlands
(10’+3’) Heterozygous, pathogenic TEK variant associated with primary congenital glaucoma with intact Schlemm’s canal. Ta Chen Chang, Guney Bademci. University of Miami Miller School of Medicine, Miami FL, USA
10:45 - 11:15 COFFEE BREAK
11:15 - 12:30 SESSION 2 – DEVELOPMENTAL EYE DISORDERS 2: ENVIRONMENT, GENOTYPES AND PHENOTYPES
Moderators: Gaia Gestri, Richard Holt
(10’+3’) Monoallelic and biallelic variants in LRP5 lead to developmental eye and bone anomalies with varying severity. Solomon Merepa, Dorine A. Bax, Yesim Kesim, Fiona Watkins, Xavier Zanlonghi, Nicolas Chassaing, Nicola K Ragge. Oxford Brookes University, Oxford, UK
(10’+3’) The Medikeye project: Description and risk of congenital ocular anomaly after prenatal exposure to medications in 13 countries of Europe; a EUROmediCAT study. Charlotte Dubucs, Erika-Alexandra Cifuentes, Anna-Belle Beau, Anthony Caillet, Félix Frémont, Van N’Go, Amanda Julie Neville, Elisa Ballardini, Helen Dolk, Maria Loane, Ester Garne, Babak Khoshnood, Nathalie Lelong, Anke Rissmann, Mary O’Mahony, Anna Pierini, Miriam Gatt, Jorieke Bergman, Maciej Robert Krawczynski, Anna Latos Bielenska, Luis Javier Echevarría González de Garibay, Clara Cavero-Carbonell, MarieClaude Addor, David Tucker, Sue Jordan, Elly Den Hond, V. Nelen, Ingeborg Barisic, Florence Rouget, Hanitra Randrianaivo, Jonathan Hoareau, Isabelle Perthus, Hilde Van Look, Caroline Hurault- Delarue, Monique Courtade-Saïdi, Christine Damase-Michell. Université de Toulouse Toulouse, France
(12’+3’) A recessive loss-of-function mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans. Vianney Cortez, Miguel Rodriguez, Paris Ataliotis, Claudine Mayer, Julie Plaisancié, Nicolas Chassaing, Hane Lee, Jean-Michel Rozet, Florencia Cavodeassi, Lucas Fares Taie. St. George's University of London, London, UK
(12’+3’) Wnt ligand secretion mediator (WLS): novel cases and zebrafish models further support its role in structural eye anomalies and highlight new gene interactions. Hande Tunbak, Fabiola Ceroni, Lidiya V Talbot, Yesim Kesim, Dorine A Bax, Fiona Watkins, Solomon Merepa, Zena Lam, Joanna Jarvis, Evan Reid, Lyndall Sarkies, Stephen W Wilson, Gaia Gestri, Nicola K Ragge. Oxford Brookes University, Oxford, UK and University College London, London, UK
(12’+3’) Association of colobomas with variants in the Rho family of small GTPases and effector genes. Diana Brightman, Nawaal Shinwari, Ehsan Ullah, Bin Guan, Robert B. Hufnagel, Brian P. Brooks, Delphine Blain, Sabine Fuhrmann, Brittany Simpson, Anne M. Slavotinek. Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
12:30 - 13:30 LUNCH BREAK
13:30 - 14:45 SESSION 3 – RETINAL DISEASES: DEVELOPMENTAL EYE DISORDERS: FOCUSSING ON THE RETINA
Moderators: Elfride de Baere, Jean-Michel Rozet
(10’+3’) Clinical and electrophysiological phenotype in two unrelated probands with homozygous c.895T>C variant in RGS9. Grace A. Borchert, Rachael C. Heath Jeffery, Sian Sperring, Morag Shanks, Jennifer Whitfield, Penny Clouston, Jennifer A. Thompson, Danial Roshandel, Kanmin Xue, Samantha R. De Silva, Jasmina Cehajic-Kapetanovic, Robert E. MacLaren, Andrea H Nemeth, Fred K. Chen, Susan M. Downes. University of Oxford, Oxford, UK
(10’+3’) Investigating retinal cellular defects in eye disorders using Zebrafish embryo. Swati Sharma, Robert Lea, Cerys Manning. University of Manchester, Manchester, UK
(12’+3’) GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment. Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie, Jeanne Amiel, Jérôme E. Roger, Isabelle Audo, Matthieu Robert, Pierre David, Vincent Jung, Nicolas Goudin, Ida Chiara Guerrera, Stéphanie Moriceau, Danielle Amana, Nurit Assia Batzir, Anat Bachar-Zipori, Lina Basel Salmon, Nathalie Boddaert, Sylvain Briault, Ange-Line Bruel, Christine Costet-Fighiera, Luisa Coutinho Santos, Cyril Gitiaux, Karolina Kaminska, Paul Kuentz, Naama Orenstein, Nicole Philip-Sarles, Morgane Plutino, Mathieu Quinodoz, Cristina Santos, Sabine Sigaudy, Mariana Soeiro e Sá, Efrat Sofrin, Ana Berta Sousa, Rui SousaLuis, Christel Thauvin-Robinet, Erwin Van Dijk, Khaoula Zaafrane-Khachnaoui, Dinah Zur, Josseline Kaplan, Carlo Rivolta, Jean-Michel Rozet, Isabelle Perrault. Institute of Genetic Diseases, Imagine and Paris Cité University, 75015 Paris, France
(12’+3’) Characterisation of the retinal phenotype in patients with HGSNAT-associated retinal dystrophy and in HGSNAT-deficient mice (MPSIIIC). Christos Iosifidis, Shaun Wood, Panagiotis Sergouniotis, Brian W Bigger, Graeme C. Black. University of Manchester, Manchester, UK
(12’+3’) Evaluation of mirtron silencing and rhodopsin restoration in a human rhodopsin P23H knock-in mouse model of retinitis pigmentosa. Qingyun Zheng, Maria Kaukonen, Imran H. Yusuf, Federica Staurenghi, Michelle E. McClements, Robert E. MacLaren. University of Oxford, Oxford, UK
14:45 - 15:10 COFFEE BREAK
15:10 GUEST SPEAKER: Professor Elfride De Baere, Ghent “Multi-omics to unravel regulatory landscapes and tackle missing heritability in inherited retinal diseases” (30’+5’)
15:50 End of scientific sessions
15:55 Walking tour of New College / New College Choir
18:00 CHAMPAGNE RECEPTION
19:00 GALA DINNER
DAY 2 WEDNESDAY 25th September, 2024
08:45 - 09:30 COFFEE and PASTRIES
09:30 - 11:00 SESSION 1 - DEVELOPMENTAL EYE DISORDERS: THE DARK SIDE (REGULATORY SEQUENCES)
Moderators: Anne Slavotinek, Kevin Gregory-Evans
(12’+3’) A homozygous deletion neighbouring MAB21L2 in an individual with microphthalmia highlights the importance of evolutionarily conserved non-coding regulatory sequences for eye development. Fabiola Ceroni, Munevver B Cicekdal, Richard Holt, Elena Sorokina, Nicolas Chassaing, Sam Clokie, Thomas Naert, Lidiya V Talbot, Sanaa Muheisen, Dorine A Bax, Yesim Kesim, Emma C Kivuva, Catherine Vincent-Delorme, Soeren S Lienkamp, Julie Plaisancie, Elfride De Baere, Patrick Calvas, Kris Vleminckx, Elena V Semina, Nicola K Ragge. Oxford Brookes University, Oxford, UK
(12’+3’) A homozygous deletion located downstream PAX6 associated with autosomal recessive form of congenital aniridia. Sophie Valleix, Audrey Putoux, Nicolas Pianton, Hugo Bouvarel, Abdelhakim Bouazzaoui, Cyril Burin des Roziers, Bertrand Chesneau, Dominique Brémond- Gignac, Nicolas Chassaing. CHU Toulouse, Toulouse, France
(12’+3’) Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for Tgfβ2 in glaucoma and myopia. Elisa Erjavec, Clémentine Angée, Djihad Hadjadj, Bruno Passet, Pierre David, Corinne Kostic, Emmanuel Dodé, Xavier Zanlonghi, Nicolas Cagnard, Brigitte Nedelec, Sylvain V. Crippa, Christine Bole-Feysot, Mohammed Zarhrate, Sophie Creuzet, Johan Castille, Jean-Luc Vilotte, Patrick Calvas, Julie Plaisancié, Nicolas Chassaing, Josseline Kaplan, Jean-Michel Rozet, Lucas Fares Taie. Institute of Genetic Diseases, Imagine and Université Paris Cité; Paris, France
(12’+3’) Charting mutations in noncoding DNA elements as a possible cause of inherited eye disease. Romina D’Aurizio, Fabiola Ceroni, Richard Holt, Carolina Marenco, Giorgia Pozzolini, Gabriele Antoniazzi, Delia Morciano, Elvira Zakirova, Matilde Colombo, Noemi Tabanera, Leonardo Beccari, Lidiya V. Talbot, Paola Bovolenta, Nicola Ragge, Silvia Russo and Silvia Kirsten Nicolis. Institute of Informatics and Telematics, Pisa, Italy and Istituto Auxologico Italiano, Milan, Italy
(12’+3’) Insights into the FOXE3 Transcriptional Network from Exploration of the impact of a regulatory Variant in Complex Microphthalmia. Lucas Fares Taie, Julie Plaisancié, Clementine Angée, Elisa Erjavec, Isabelle Raymond Letron, Jean-Yves Douet, Mathilde Goetz, Catherine Vincent-Delorme, Ino Karemaker, Marijke Baltissen, Leonardo Valdivia, Yanad Abou Monsef, Patrick Calvas, Nicolas Chassaing, Jean-Michel Rozet. Institut Imagine, Paris, France
10:45 - 11:15 COFFEE BREAK
11:15 - 12:15 SESSION 2 - DEVELOPMENTAL EYE DISORDERS: ADVANCING METHODOLOGIES
Moderators: Florencia Cavodeassi, Nicolas Chassaing
(15’+3’) Investigation of the molecular mechanisms behind YAP-dependent developmental eye disorders. Annika Rick-Lenze, Srishti Silvano, Swati Sharma, Robert Lea, Panos Sergouniotis, Forbes Manson, Cerys S Manning. University of Manchester, Manchester, UK
Investigation of YAP1 variants associated with coloboma. Srishti Silvano, Panagiotis Sergouniotis, Forbes Manson, Cerys Manning. University of Manchester, Manchester, UK
(12’+3’) Molecular insights into retinal foveal hypoplasia. Kevin Gregory-Evans, Cheryl Gregory-Evans, University of British Columbia, Vancouver, BC, Canada
(12’+3’) Use of optical genome mapping and whole genome sequencing to detect structural variants in individuals with genetically undiagnosed developmental eye disorders. Richard Holt, Karthikah Jeganathan, Bertrand Chesneau, Solomon Merepa, Lidiya Talbot, Fabiola Ceroni, Fiona Watkins, Dorine Bax, Alison Kraus, Will Evans, Mira Kharbanda, Nicolas Chassaing, Julie Plaisancié, Nicola K Ragge. Oxford Brookes University, Oxford, UK
(12’+3’) Crispr/Cas9 genetic screening in genetically sensitized zebrafish identify new genes causative of MAC phenotypes. Stephen Carter, Mahum Shaikh, Stephen Wilson, Gaia Gestri. University College London, London, UK
12:30 - 14:00 LUNCH BREAK
(please come and upload your short case presentation during lunch)
14:00 - 15:00 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.
Update on GoOD Network
15:00 GUEST LECTURE Professor Cheryl Gregory Evans, Vancouver “New approaches to treat ocular developmental diseases: CRISPR and stem cell technologies” (30’+5’)
15:45 END OF MEETING
SECRET PLACES IN OXFORD (SHORT WALKING TOUR) (Weather permitting)