2021 - Madrid (virtually)
Following on from the success of the previous Genetics of Ocular Development (GoOD) meetings in Oxford and Paris, we are pleased to announce a third meeting on Friday 8th October 2021. Our local hosts will be Carmen AYUSO and Marta CORTON from the Fundacion Jimenez Diaz University Hospital in MADRID (Spain). Please note that due to the Covid19 situation the meeting will be held virtually for the second time and is limited to a one-day session.
Abstracts submission is now closed. Registration for the meeting is open, we would like to encourage you to register online to attend the meeting as soon as possible: https://www.eventbrite.co.uk/e/genetics-of-ocular-development-good-meeting-tickets-152631770735 .
The GoOD meetings enable scientists and clinicians to meet, share ideas and provide the basis for future collaborations, please see our preliminary programme below. We look forward to meeting you virtually in October.
Programme: Third GoOD Meeting 2021
Friday, October 8, 2021
10 am- 5:30 pm CEST
(9 am- 4:30 pm BST)
Hosts: Carmen Ayuso & Marta Corton (virtually in Madrid)
Co-organisers: Nicola Ragge, Patrick Calvas, Nicolas Chassaing
10:00 - 10:10 (9:00-9:10 BST) INTRODUCTION
10:10-11:30 SESSION 1 - DEVELOPMENTAL EYE DISORDERS: OVERVIEW, DIAGNOSIS AND PATHWAYS
First evidence of the role of SOX2 in a cohort of 96 patients with Peters' anomaly. Bertrand Chesneau, Marion Aubert-Mucca, Félix Fremont, Jacmine Pechmeja,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, Clémence Vanlerberghe, 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
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
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, Dragana Josifova, Pradeep Vasudevan, Nicola Ragge. Oxford Brookes University, Oxford, UK/ Birmingham Women’s and Children’s NHS Foundation Trust
Variants in the nuclear retinoic acid receptors RARA and RARB confirm a phenotypic spectrum of syndromic developmental eye disorders. Richard J. Holt, Fabiola Ceroni, Dorine Bax, Lidiya Talbot, 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
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
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
Functional characterization of potentially spliceogenic variants in aniridia by minigenes and ex-vivo approaches. Alejandra Tamayo, Maria Tarilonte, 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
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, Sanaa Muheisen, Samuel Thompson, Elena V. Semina. Medical College of Wisconsin, Milwaukee, WI, USA.
Gene expression profiling of zebrafish mab21l2^u517 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
Retinal coloboma in yap^nl13 mutants is due to reduced RPE contractility. Niccolo Fioritti, Giulia Cazzagon, Lisa Tucker, Masa Tada, Alex Nechiporuk, Stephen W. Wilson*, Gaia Gestri*. University College of London, UK
Crosstalk between mechanical cues and Notch-dependent gene expression in retinal development. Cerys S Manning. University of Manchester, UK
Genetically engineered pluripotent stem cell retinal organoids mimic retinoblastoma development. Agata Rozanska, Rodrigo Cerna-Chavez, Rachel Queen, Joseph Collin, Darin Zerti, Birthe Dorgau, 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 THERAPY
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
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, Venu Pullabhatla, Ewa Marek, Miwako Osawa, Hiroko Sato, Takanori Washio, Hayato Niiro, Akiko Maeda, Graham Speight. OGT, Oxford, UK
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, Mariateresa Pizzo, Marta Molinari, Sabrina Carrella, Sandro Banfi. Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
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, Burcu Munevver Cicekdal, Sarah Vergult, Thijs Van der Snickt, Fadi S. Shaya, Kris Vleminckx, Petra Liskova, Kent W. Small, Elfride De Baere. Ghent University Hospital, Ghent, Belgium
Interaction map of cis-regulatory elements controlling ABCA4 in human retina. Soraya Kalayanamontri. Universidad Pablo de Olavide, Sevilla, Spain
Investigating photoreceptor glycan-binding proteins to assist gene therapy. Cécile Méjécase, Lyes Toualbi, Mariya Moosajee. University College of London, UK
miR-181a/b modulation as potential therapeutic approach for AMD treatment. Simona Brillante, Eva Cipollaro, Marta Molinari, Sandro Banfi, Alessia Indrieri, 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 INVITED LECTURE BY PR. JEAN-MICHEL ROZET
"Antisense oligonucleotide-mediated therapy: from retinal dystrophies to ocular developmental diseases?" 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
Scientific organiser and host 2021
Professor Carmen Ayuso
I am a medical geneticist working in the Medical Genetics Department in Fundacion Jimenez Diaz University Hospital in Madrid, Spain, and currently I have the position of Scientific Director of the Health Research Institute in the same institution, as well.
My activity combines clinical and molecular genetics in both clinical care and research settings.
The main fields of my interest are genomics medicine and ocular genetics. I am also involved in ELSI issues related with these topics.
I am the PI of a Spanish Government funded (from 1991 till today) multidisciplinary and multicentric research project on retinal dystrophies.
I am currently advisor of Ministry of Health in two Commissions: Assisted Reproduction Commission and National Genomic Test Criteria and Directory Commission.
Scientific organiser and host 2021
Dr Marta Corton
I am a molecular geneticist working in the Genetics & Genomics Department in Fundacion Jimenez Diaz University Hospital in Madrid, Spain.
Since 2013, I am leading the Ocular Developmental Pathologies research group. Our main research topic concerns deciphering the molecular causes of congenital ocular pathologies using different NGS techniques in combination with functional genomics. For that, I am the PI of Spanish Government funded research projects which identify new genes and molecular mechanisms involved in ocular developmental defects. In addition, I am a specialist in designing and implementing omics strategies to improve the diagnostic testing of different inherited ophthalmological disorders, including developmental defects and retinopathies.
I am a member of the committee of the European action COST ANIRIDIA-NET and of the scientific committee of Aniridia Europa, and I participate in other collaborative research consortia (Spanish Rare Diseases Network and the European Retinal Dystrophies Consortium).
Scientific organiser
Professor Nicky Ragge
I work as a clinical geneticist and specialist eye geneticist at Birmingham Women’s and Children’s Hospital and surrounding centres in the UK.
I have been Chief Investigator for a national study researching the genetics of ocular developmental anomalies for almost 20 years, with a laboratory research team at Oxford Brookes University.
In addition to identifying genes and conditions related to developmental eye anomalies, I am interested in developing techniques for rapid diagnosis and developing both panels and new customised eye arrays with the diagnostic lab in Birmingham.
I am national structural eye disease advisor for Genomics England and on the Committee for the UK Eye Genetics Group.
Scientific organiser
Professor Patrick Calvas
I am a medical geneticist, who has been involved for a long time in the field of ophthalmic genetics especially in ocular congenital malformations. I trained in France, Paris and Toulouse. I underwent tight collaborations with Dr Josseline Kaplan’s laboratory of ophthalmic genetics. I led the University Hospital genetics department of Toulouse until 2015, in which I built the molecular genetics laboratory and specialised clinics in the various field of medical genetics.
I am the current coordinator of the clinical Reference Centre on Rare Ophthalmic Genetics Diseases (Toulouse’s branch specialised in paediatrics developmental ocular malformations). I am also the current leader of Toulouse’s research group on ocular developmental anomalies (INSERM/University of Toulouse) and Vice-Chair of the French Society of Human Genetics.
Scientific organiser
Dr Nicolas Chassaing
I am a medical geneticist working in the Medical Genetics Department in Toulouse, France with both clinical genetics and molecular genetics activities.
My research topic concerns ocular developmental defects and are conducted in the UMR 1056 INSERM - Université de Toulouse laboratory. I am the principal investigator of the rare disease cohort RaDiCo-AC-Oeil which aims to better understand natural history of patients with ocular developmental defects by recruiting patients during 10 years among investigative centres among the whole country
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