On-line meeting in 2020, hosted from Institute Imagine, Paris - welcoming attendees from California to Australia
Following the success of the 2019 Genetics of Ocular Development (GoOD) meeting held in Oxford, we ran the second GoOD meeting on Monday 7th September 2020 as a virtual event hosted by Professor Jean-Michel Rozet, Imagine, Paris.
The GoOD Meeting enabled scientists and clinicians to meet, share ideas, and provide the basis for future collaboration.
Programme: Second GoOD Meeting
Tweet: #goodsocmeeting2020
Sep 7, 2020
10 am – 6 pm CEST
(9 am – 5 pm BST)
Host: Jean-Michel Rozet
Co-organisers: Nicola Ragge, Patrick Calvas, Nicolas Chassaing
10:00 - 10:15
INTRODUCTION (9:00-9:15 BST)
10:15 - 11:15
OCULAR DEVELOPMENTAL DISORDERS SESSION 1
10:15 (8’+2’)
Exome and genome sequencing, the value of the pedigree and deep phenotyping for diagnostic yield and novel genotype - phenotype correlations in the ocular anterior segment disorders. Alan MA, John R. Grigg, Robyn V. Jamieson. Sydney Children’s Hospitals Network & Save Sight Institute. Sydney Australia.
10:25 (8’+2’)
Variants in individuals with microphthalmia, coloboma, and cataract highlight a role for DYRK1A in human eye development. Dorine A. BAX, Fabiola Ceroni, DDD Study, Ruth Newbury-Ecob, Jill Clayton-Smith ,, Shehla Mohammed, Anne K. Lampe, Frances Elmslie, Muriel Holder, Derek Lim, Nicola Ragge. Oxford Brookes University. Oxford UK/ Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK.
10:35 (8’+2’)
The spectrum of ocular developmental anomalies associated with SHH deficiency. Alinoë LAVILLAUREIX, Artem Kim, Christele Dubourg, Marie De Tayrac, Erwan Watrin, Véronique David, Valérie Dupé, Sylvie Odent. CNRS UMR 6290. Rennes France.
10:45 (8+2’)
A Fibroblast Growth Factor 14 (FGF14) deletion underlies a vestibulocerebellar disorder presenting as early onset nystagmus – an old pedigree revisited. Fabiola CERONI, Daniel Osborne, Samuel Clokie, Dorine A. Bax, Jay E. Self, Nicola K. Ragge. Oxford Brookes University. Oxford UK/ Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK.
10:55 (5’+2’)
Chorioretinopathy associated with lymphedema and microcephaly as a diagnostic clue in KIF11 mutations. Jaume CATALÀ-MORA, Antonio Federico Martínez-Monseny, Leticia Diana Pias-Peleteiro, Dídac Casas Alba, Elisa Carreras-Bertran, Jesús Díaz-Cascajosa, Mercedes Serrano Gimare. Hospital Sant Joan de Déu. Barcelona, Spain.
11:02 (8’+2’)
Trio-whole genome sequence and structural variant analyses reveal a de novo deletion within the PITX2 cis-regulatory region in an individual with severe bilateral microphthalmia and coloboma. Kathleen A. WILLIAMSON, Mihail Halachev, Alison Meynert, Jose Campos Parada, David Parry and David R. FitzPatrick. University of Edinburgh. Edinburgh, UK.
11:15 - 11:30 BREAK /CHAT SESSION
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11:30 - 12:35
OCULAR DEVELOPMENTAL DISORDERS SESSION 2
11:30 (8’+2’)
Resolving the basis of phenotypically variable hereditary abnormalities of eye formation.Gaia GESTRI, Stephen Carter, Stephen Wilson. UCL. London UK.
11:40 (8’+2’)
Ablation of the congenital microcoria (MCOR) critical region on 13q32.1 activates common-type glaucoma signaling pathways challenging a developmental etiology of MCOR-associated glaucoma. Clémentine Angée, Brigitte Nedelec, Pierre David, Sylvie Gerber, Sophie Creuzet, Sylvain Crippa, Bruno Passet, Jean-Luc Vilotte, Nicolas Chassaing, Josseline Kaplan, Corinne Kostic, Patrick Calvas, Jean-Michel Rozet, Lucas FARES TAIE,. Laboratory genetics in ophthalmology (LGO), INSERM UMR1163 - Institute of genetic diseases, Imagine. Paris, France.
11:50 (8’+2’)
A local source of retinoic acid shapes the extraocular muscle functional unit. Glenda COMAI, Marketa Tesarova, Valerie Dupé, Muriel Rhinn, Pedro Vallecillo Garcia, Fabio da Silva, Betty Feret, Katherine Exelby, Pascal Dollé, Leif Carlsson, Brian Pryce, Francois Spitz, Sigmar Stricker, Tomas Zikmund, Jozef Kaiser, James Briscoe, Andreas Schedl, Norbert B. Ghyselinck, Ronen Schweitzer, Shahragim Tajbakhsh. Stem Cells & Development Unit - CNRS UMR 3738. Institut Pasteur. Paris, France.
12:00 (8’+2’)
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD). Hannah VERDIN. Irina Balikova, Sascha Vermeer, Philippe Kestelyn, Julie Van De Velde, Matthias Desmet, Tom Sante, Frauke Coppieters, Toon Rosseel, Bart P. Leroy, Elfride De Baere. Ghent University. Ghent, Belgium
12:10 (5’+2’)
A novel truncating mutation in BCOR cause microphthalmia associated to craniosynostosis. Letizia CAMEROTA, Rachel L. Taylor, Graeme Black, Francesco Brancati.University of L'Aquila. L’Aquila, Italy.
12:17 (5’+2’)
Whole genome sequencing reveals breakpoints on a balanced pericentric inversion of chromosome X disrupting NHS in a patient with Nance-Horan syndrome. Alejandra DAMIAN, Alejandra Tamayo, María José Trujillo, Carmen Ayuso, Raluca O. Ionescu, Marta Corton. Foundation J. Jimenez-Diaz. Madrid, Spain.
12:24 (5’+2’)
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma. Marion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, Véronique Gaston, Christophe Habib, Isabelle Meunier, Sabine Sigaudy, Josseline Kaplan, Olivier Roche, Danièle Denis, Pierre Bitoun, Damien Haye, Alain Verloes, Patrick Calvas, Nicolas Chassaing, Julie PLAISANCIÉ. INSERM UMR 1056. Toulouse, France.
12:35 - 13:35
LUNCH & CHAT
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13:35 – 14:25
RETINA SESSION
13:35 (8’+2’)
Unraveling complex structural variants of CEP78 leading to Cone‐rod Dystrophy and Hearing Loss using long-read sequencing. Giulia ASCARI, Nanna D. Rendtorff, Julie Jacob, Julie De Zaeytijd, Valerie Baumont, Marieke De Bruyne, Toon Rosseel, Mattias Van Heetvelde, Tim De Pooter, Wouter De Coster, Mojca Strazisar, Björn Menten, Lisbeth Tranebjærg, Elfride De Baere. Ghent University. Ghent, Belgium.
13:45 (8’+2’)
Functional characterization of a Xenopus tropicalis knockout and a human cellular model of RCBTB1-associated inherited retinal disease shows involvement of RCBTB1 in the cellular response to oxidative stress. Marjolein CARRON, T. Naert, G. Ascari, S. Demuynck, T. Van Nieuwenhuyzen, T. Van Laethem, T. Rosseel, D. Priem, A. Kremer, H. Van Landeghem, S. Hoogstoel, F. Coppieters, C. Guérin, K. Vleminckx, E. De Baere. Ghent University. Ghent, Belgium
13:55 (8’+2’)
North Carolina Macular Dystrophy: phenotypic variability and in silico analysis of a disease-causing non-coding variant. David J. GREEN, Jamie M Ellingford, Cerys Manning, Vinod Sharma, Graeme C Black, Eva Lenassi, Panagiotis I Sergouniotis. Manchester University. Manchester, UK.
14:05 (8’+2’)
Two new genes involved in isolated and syndromic albinism. Perrine PENNAMEN, Angèle Tingaud-Sequeira, Ivet Gazova, Linh Le, Margaret Keighren, Fanny Morice Picard, Souad Gherbi Halem, Sandrine Marlin, Josseline Kaplan, Bruno Delobel, Béatrice Nguyen Van Duong, Valentine Coste, Mathieu Fiore, Anne Bauters, Jean-Claude Bordet, Cédric Delevoye, Modibo Diallo, Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Sophie Javerzat, Mickey Marks, Ian Jackson, Benoit Arveiler. INSERM UMR1211. Bordeaux, France.
14:15 (8’+2’)
Loss of function of dopachrome tautomerase and vision deficiency in patients with oculocutaneous albinism. Sophie JAVERZAT, Angèle Tingaud-Sequeira, Perrine Pennamen, Vincent Michaud, Iveta Gazova, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cédric Delevoye, Margaret Keighren, Lisa McKie, Didier Lacombe, Claudio Plaisant, Eulalie Lasseaux, Ian Jackson, Benoit Arveiler. INSERM UMR1211. Bordeaux, France.
14: 25 – 14:45
THERAPEUTIC PERSPECTIVE
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14:25 (8’+2’)
miR-181a/b downregulation: a possible gene-independent therapeutic approach for inherited retinal diseases (IRDs). Sabrina CARRELLA. Alessia Indrieri, Davide Piccolo, Ludovica Ciampi, Mariateresa Pizzo, di Guida Martina, Petrogiannakis Georgios, Sara Barbato, Elena Marrocco, Yulia Ezhova, Brunella Franco, Enrico Maria Surace, Sandro Banfi. The Telethon Institute of Genetics and Medicine (TIGEM). Pozzuoli, Italy.
14:35 (8’+2’)
Translational readthrough of ciliopathy genes BBS2 and ALMS1 using patient fibroblasts. Jonathan EINTRACHT, Mariya Moosajee, Helen May-Simera. UCL. London, UK.
14:45 – 15:00
BREAK /CHAT SESSION
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15:00 – 16:00
OCULAR DEVELOPMENTAL DISORDERS SESSION 3 and THERAPEUTIC PERSPECTIVE
15:00 (8’+2’)
The go-between: a Sox2-regulated gene expression program in relay neurons of the visual thalamus as a possible contributor to inherited vision disease. Linda SERRA,Mattias Pernebrink, Federico Zambelli, Michèle Studer, Claudio Cantù, Giulio Pavesi, Silvia Nicolis, Sara Mercurio. Milano-Bicocca University. Milano, Italy
15:10 (8+2’)
Functional heterogeneity of pathogenic variants associated with RARB-related disorders.Jacques L. MICHAUD. CHU Sainte-Justine Research Center. Montréal, Canada
15:20 (8’+2’)
A homozygous deletion upstream of MAB21L2 reveals the importance of conserved cis regulatory elements in human developmental eye disorders. Richard HOLT, Fabiola Ceroni, Dorine Bax, Elena Sorokina, Sarah Seese, Elena Semina, Kris Vleminckx, Nicola K. Ragge. Oxford Brookes University. Oxford, UK
15:30 (8’+2’)
Zebrafish knockout of mab21l1 reveals a conserved role in eye development and suggests affected pathways. Sarah E. SEESE, Brett Deml, Sanaa Muheisen, Elena Sorokina, Elena V. Semina. Medical College of Wisconsin. Milwaukee, USA
15:40 (8’+2’)
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies and additional neurodevelopmental deficits. Zha CONGYAO, Carole A. Farah, Richard J. Holt, Fabiola Ceroni, Lama AlAbdi, Fanny Thuriot, Arif O. Khan, Rana Helaby, Sébastien Lévesque, Fowzan S. Alkuraya, Alison Kraus, Nicola Ragge, Wayne S. Sossin. McGill University. Montreal, Canada.
15:50 (8’+2’)
Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. Htun S, Krall M, Anne SLAVOTINEK. UCSF. San Francisco, USA
16:00 – 16:15
BREAK & CHAT
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16:15 – 17:00
INVITED LECTURE BY PR ELIAS TRABOULSI
“Optic nerve hypoplasia and its current understanding”
Department of Pediatric Ophthalmology and Director of the Center for Genetic Eye Diseases at Cleveland Clinic's Cole Eye Institute. Cleveland, USA
17:00– 18:00
BUSINESS MEETING: GoOD NETWORK & SOCIETY
Open to anyone.
Jean-Michel Rozet
Jean-Michel Rozet is PhD in Human Genetics from Paris Descartes University, Research Director of the French National Institute for Health and Medical Research (INSERM) and Head of the Laboratory Genetics in Ophthalmology of the Institute of genetic diseases in Paris, France. He trained in genetics with Arnold Munnich, founder of the Genetic Department of the Hôpital Necker – Enfants Malades in Paris, and cofounder of the Institute of genetic diseases.
Jean-Michel Rozet is also the earliest collaborator and successor of Josseline Kaplan who pioneered ophthalmogenetics research in France, with whom he contributed to the deciphering of the molecular bases of major genes involved in emblematic hereditary blinding diseases affecting children (Leber congenital amaurosis, Stargardt disease, optic atrophy, Gillespie syndrome, congenital microcoria…).