ISGEDR Joint Meeting - Lausanne 2021 - Quicklinks
ISGEDR 2021 Lausanne – Meeting Language
The ISGEDR 2021 Joint Meeting with EURbG, SGOF and ERN-EYE will be held in English, EXCEPT for the part of the programme ran by la Société de la Génétique Ophtalmologique (SGOF), which will be held in French only, on Friday 3 September 2021.
Meeting Organisers
Prof Francis Munier, ISGEDR President & Local Organiser
Prof Isabelle Audo, SGOF President
Prof Guillermo Chantada, EURbG President
Prof Hélène Dollfus, Coordinator ERN-EYE
Scientific Program Committee Members
Bart Leroy – Chair
Prof Isabelle Audo – Prof Guillermo Chantada – Meghan DeBenedictis
Prof Hélène Dollfus – Juliana Ferraz Sallum – Elise Heon
Annette Moll – Prof Francis Munier – Elias I Traboulsi
Meeting at a Glance
Time |
Session |
Thursday Genetics |
Thursday Rb |
Friday Rb |
Friday Genetics |
Saturday Genetics |
| 9:00-10:00 | 1 | Genetics 1 | Rb 1 | SGOF Meeting | Genetics 4 | |
| 10:00-11:00 | 2 | Genetics 2 | Rb 2 | SGOF Meeting | Genetics 5 | |
| 11:00-11:30 | COFFEE BREAK |
Poster Viewing | Poster Viewing | Poster Viewing | Poster Viewing | Poster Viewing |
| 11:30-12:30 | 3 | Genetics 3 | EURbG Meeting Starts |
Rb 3 | SGOF Meeting | Genetics 6 |
| 12:30-13:30 | LUNCH | LUNCH | LUNCH | LUNCH | LUNCH | LUNCH |
| 13:30-14:30 | Named Lecture | Francois Lecture | EURbG Meeting Continues |
Ellsworth Lecture | SGOF Meeting | Franceschetti Lecture |
| 14:30-16:00 | Mini symposium | Gene Therapy | EURbG Meeting Continues Ends at 16:00 |
Liquid Biopsies | 15:30 –16:00 Special Lecture |
14:30 – 15:00
15:00 – 16:00 |
| 16:00-16:30 | COFFEE BREAK |
Poster Viewing | Poster Viewing | Poster Viewing | Poster Viewing | 16:00 – 17:00 Gene Therapy Mitochondrial Genes |
| 16:30-18:00 | 4 | GREET ERN-i | WHO (GICC program) | Meeting Adjourns at 17:00 |
Thursday September 2nd, 2021
Auditorium - (200 Seats)
Session 1
08:00-09:00 Coffee & Registration
09:00-09:15 Welcome and Opening of the Joint ISGEDR/SGOF/EURbG/ERN-EYE Meeting - F. Munier, I Audo, G Chantada and H. Dollfus
09:15-10:00 Ophthalmic Genetics 1 - Free Papers
10:00-11:00 Ophthalmic Genetics 2 - Free Papers
11:00-11:30 COFFEE BREAK AND VIEWING OF POSTERS
11:30-12:30 Ophthalmic Genetics 3 - Free Papers
12:30-13:30 LUNCH - (cocktail dinatoire)
Session 2
13:30-14:30 Introduction of the Jules Francois Lecturers - B.P. Leroy
FRANÇOIS LECTURE - J. Bennett & A.M. Maguire - "Using learnings from RPE65 gene therapy to advance treatments for other forms of congenital blindness"
14:30-16:00 Minisymposium - Gene Therapy (Nuclear Genes) - Organisers: I. Audo, H. Dollfus, B.P. Leroy
16:00-16:30 COFFEE BREAK & VIEWING OF POSTERS
16:30-18:00 Ophthalmic Genetics 4 = Grand Rounds ERN-EYE Transnational (GREET) Meeting by the European Reference Network for Rare Eye Disease (ERN-EYE) - Case Presentations - Moderators: I. Audo, E. Héon, E.I. Traboulsi, H. Dollfus, B.P. Leroy
18:00-20:00 SWISS WINE TASTING & VISIT OF THE MUSEUM
Friday September 3rd, 2021
Auditorium - (200 Seats)
Session 3
09:15-10:00 Retinoblastoma 1 - Survival and second cancers
10:00-11:00 Retinoblastoma 2 - Metastases
11:00-11:30 COFFEE BREAK & VIEWING OF POSTERS
11:30-12:30 Retinoblastoma 3 - Interesting cases
12:30-13:30 LUNCH - (cocktail dinatoire)
Session 4
13:30-14:30 Introduction of Robert Ellsworth Lecturer - F. Munier
ELLSWORTH LECTURE - D.H. Abramson - "Cell Free DNA in Retinoblastoma: What we know and what we don't know in 2021"
14:30-15:30 Minisymposium & Free papers Liquid Biopsies
15:30-16:00 Special Lecture - "Retinal cell types as a basis for ophthalmology in the 21st century" - B. Roska
16:00-16:30 TEA & COFFEE & POSTER VIEWING
16:30-17:30 Retinoblastoma around the world - WHO (GICC program) - Global Retinoblastoma Outcome Study - D. Fabian, L. Desjardins, B. Gallie, L. Fernando Teixeira
17:30-18:00 ISGEDR Business Meeting
18:30 DEPARTURE FOR CRUISE & GALA DINNER
Saturday September 4th, 2021
Auditorium - (200 Seats)
Session 5
09:00-10:00 Ophthalmic Genetics 4 - Ocular Malformations & Syndromes
10:00-11:00 Ophthalmic Genetics 5 - Free papers
11:00-11:30 COFFEE BREAK & VIEWING OF POSTERS
11:30-12:30 Ophthalmic Genetics 6 - Free papers
12:30-13:30 LUNCH - (cocktail dinatoire)
Session 6
13:30-14:30 Introduction of Albert Franceschetti Lecturer - E.I. Traboulsi
FRANCESCHETTI LECTURE - I. MacDonald - “Choroideremia – Lessons From research and Clinical Trials”
14:30-15:00 Special Lecture - “Establishing a Successful Collaboration Between an Ophthalmic Genetics Service & a Molecular Ophthalmic Genetics Lab” - R.K. Koenekoop & F.P.M. Cremers
15:00-16:00 Minisymposium - Gene Therapy for AMD - C. Klaver
16:00-17:00 Minisymposium - Gene Therapy (Mitochondrial Genes) - G. Lenaers
17:00 hrs MEETING ADJOURNS
ISGEDR 2021 Lausanne – Oral Presentations
Olympic Museum
Lausanne, Switzerland
September 2nd to 4th, 2021
Held jointly with the
European Group of Retinoblastoma (EURbG)
Société de Génétique Ophtalmologique Francophone (SGOF)
and European Reference Network dedicated to Rare Eye Diseases (ERN-EYE)
Thursday, September 2nd, 2021 |
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Session 1 – 9:00-10:00 hrs Ophthalmic Genetics 1
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Moderators in person: Isabelle MEUNIER & Irene H MAUMENEE |
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| 8:45-8:53 | OcGen6 | Retinitis Punctata Albescens and RLBP1-Associated Phenotypes: Phenotype-Genotype Correlation and Natural History with the Aim of Gene Therapy | National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, France. | Isabelle MEUNIER | (P) |
| 8:53-9:00 | OcGen7 | Congenital Stationary Night Blindness Presenting without Night Blindness in Children. What Leads to Diagnostic Delays? | University of Iowa | Alina V DUMITRESCU | (P) |
| 9:00-9:07 | OcGen78 | NR2E3-Related Dystrophies: a Retrospective Case Series of 50 Patients. Genetic Fndings, Detailed Phenotype and Electrophysiological Analysis | CHNO des Quinze-Vingts, Paris, France | Gabriel HALLALI | (P) |
| 9:07-9:14 | OcGen34 | Isolated Maculopathy And Moderate Rod–Cone Dystrophy Represent The Milder End Of The RDH12-Related Retinal Dystrophy Spectrum | Dept of Ophthalmology, Ghent University Hospital, Ghent, Belgium | Julie DE ZAEYTIJD | (P) |
| 9:14-9.21 | OcGen99 | Retrospective Analysis of Ocular Findings in Patients with Biallelic Mutations in CRB1 | Columbia University, New York, NY | Irene H MAUMENEE | (P) |
| 9:21-9:28 | OcGen101 | Sibling concordance in lesion growth rates in Stargardt disease using ultra-widefield fundus autofluorescence | Lions Eye Institute, Perth, WA, Australia | Rachael HEATH JEFFERY | (V) |
| 9:28-9:35 | OcGen57 | Progression of Stargardt disease as determined by electroretinography and autofluorescence over a median period of 17 years | Eye Hospital, University Medical Centre Ljubljana | Jana SAJOVIC | (V) |
| 9:35-9:42 | OcGen24 | Autosomal Recessive Bestrophinopathy in a Ghent Cohort | Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium | Ine STRUBBE | (P) |
| 9:42-9:49 | OcGen77 | Genotype-Phenotype Correlation in a Large Italian Cohort of Patients with Autosomal-Dominant Retinitis Pigmentosa due to Variants in RHO gene: a Longitudinal Natural History Study | University of Campania Luigi Vanvitelli | Francesco TESTA | (V) |
| 9:49-9:54 | OcGen36 | Progression Of Outer Retinal Layer Structural Changes In CNGA3 And CNGB3 – Associated Retinopathy | Clinical Institute of Medical Genetics, University Medical Centre Ljubljana | Nika VRABIC | (P) |
10:00-11:00 hrs Ophthalmic Genetics 2
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Moderators in person: Pascal ESCHER & Christina ZEITZ |
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| 10:00-10:07 | OcGen22 | Polycomb Repressive Complex-2 contributes to rod photoreceptor death process in several forms of retinal degeneration | Hôpital Jules-Gonin, University of Lausanne | Yvan ARSENIJEVIC |
(P) |
| 10:07-10:14 | OcGen29 | Shedding light on retina signaling by studying complete congenital stationary night blindness | Institute of Ophthalmology, University College of London, London | Helen FREDERIKSEN |
(P) |
| 10:14-10:21 | OcGen51 | Toward a better understanding of ITM2B pathogenicity in a specific retinal dystrophy, and its potential role in mitochondria | Sorbonne Université, IInstitut de la Vision, Paris, France | Tasnim BEN YACOUB |
(P) |
| 10:21-10:28 | OcGen38 | Towards the gene therapy for FAM161A associated retinitis pigmentosa in a mouse model | Jules-Gonin Eye Hospital and University of Lausanne | Ning CHANG |
(P) |
| 10:28-10:35 | OcGen53 | Validation of CRISPR/Cas9-mediated gene correction of the two most prevalent USH2A mutations in iPSC-derived retinal organoids | Univ Montpellier, Inserm, Montpellier, France | Carla SANJURJO SORIANO |
(P) |
| 10:35-10:42 | OcGen42 | Suitability of iPS-derived Retinal Pigment Epithelium (iRPE) as a Model for Lentiviral-mediated Gene Therapy (GT) | Dept Ophthalmology , University of Lausanne Fondation Asile des aveugles | Florian UDRY |
(P) |
| 10:42-10:49 | OcGen2 | Gene therapy rescues cone and rod function in a pre-clinical model of CDHR1-associated retinal degeneration through restoration of photoreceptor outer segments | Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford | Imran YUSUF | (V) |
| 10:49-10:56 | OcGen37 | Mouse Models for Dominant and Recessively Inherited NR2E3-linked Retinal Degenerations | Bern University Hospital; Department of BioMedical Research, University of Bern | Pascal ESCHER |
(P) |
| 10:56-11:03 | OcGen106 |
A Tissue-specific Allelic Hierarchy Predicts Phenotypes for USH2A-related Disorders in the RUSH2A Study
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National Eye Institute, Bethesda, MD | Robert HUFNAGEL |
(P) |
11:00 to 11:30 – COFFEE BREAK |
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11:30-12:30 hrs Ophthalmic Genetics 3
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Moderators in person: Birgit LORENZ & Daniel CHUNG |
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| 11:30-11:45 | OcGen14 | Therapeutic Pipeline for Stargardt disease | Institute of Molecular and Clinical Ophthalmology Basel (IOB) | Hendrik SCHOLL |
(P) |
| 11:45-11:52 | OcGen40 | High Dose Vitamin A Improves a Fundus Albipunctatus-like Phenotype Related to a Novel Null Retinol Carrier -Variant | Sorbonne Université, IInstitut de la Vision, Paris, France | Vasily SMIRNOV |
(P) |
| 11:52-12.02 | OcGen45 | Voretigene Neparvovec Gene Therapy to Treat RPE65-mutation-associated IRDs – Experience in German Centers | UKB, Bonn; JLU, Giessen; UKT, Tübingen; LMU München, Germany | Birgit LORENZ |
(P) |
| 12:02-12:12 | OcGen104 | Select strategies for gene agnostic approches to cone photoreceptor function preservation | SparingVision | Daniel CHUNG |
(P) |
| 12:12-12:22 | OcGen31 | The Phase III REFLECT Trial: Efficacy and Safety of Bilateral Gene Therapy for Leber Hereditary Optic Neuropathy (LHON) | Ghent University Hospital, Ghent University, Ghent, Belgium | Bart LEROY |
(P) |
12:30 to 13:30 – LUNCH |
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Session 2 – 13.30-16.00 hrs Symposium:
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Bart P LEROY, Ghent & Philadelphia, PA – Introduction of the Jules François Lecturers |
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13.40-14.20 hrs Jean BENNETT & Albert M MAGUIRE – FRANÇOIS LECTURE: |
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Moderators in person: Isabelle AUDO, Hélène DOLLFUS & Bart P LEROY |
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| 14.20 – 14.30 | OcGenInvited4 | Luxturna in Clinical Practice: The PERCEIVE Study | Oxford and Tubingen | Dominik FISCHER |
(P) |
| 14.30 – 14.40 | OcGenInvited5 | Optogenetics: The Generic Future? | Paris & Pittsburgh | José A SAHEL |
(P) |
| 14.40 – 14.50 | OcGenInvited6 | Untangling Phenotypes and Treating Severe Retinal Degenerations | Philadelphia | Tomas ALEMAN |
(P) |
| 14.50 – 15.00 | OcGenInvited7 | Intravitreal AAV-based Gene Therapies: XLRS | Davis, CA | Paul SIEVING | (V) |
| 15.00 – 15.10 | OcGenInvited8 | RNA Interference Treatment for CEP290-IRD | Ghent & Philadelphia | Bart P LEROY |
(P) |
| 15.10 – 15.20 | OcGenInvited9 | RNA Interference Treatment for USH2A-IRD | Paris | Isabelle S AUDO |
(P) |
| 15.20 – 15.30 | OcGenInvited2 | Expanding AAV Transfer Capacity in the Retina | Naples | Alberto AURICCHIO | (V) |
| 15.30 – 15.40 | OcGenInvited3 | CRISPR/Cas9 for Inherited Retinal Disease | New York | Steven S TSANG | (V) |
16.00 to 16.30 – COFFEE BREAK |
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16:30-18:30 hrs Ophthalmic Genetics 4 –
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Moderators: Isabelle AUDO & Hélène DOLLFUS (in person) |
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| 16:30-16:36 | OcGen85 | A Maculopathy in a Patient Diagnosed with a Rare Plurimalformative Overgrowth Syndrome | CARGO Strasbourg Center of Reference – Hopitaux Universitaires de Strasbourg | Andreea-Alexandra IONESCU | (V) |
| 16:36-16:42 | OcGen46 | Clinical Manifestations of the Non-Syndromic Subtype of MFSD8-associated Disease | Ghent University Hospital, Ghent, Belgium | Hwei Wuen CHAN |
(P) |
| 16:42-16:48 | OcGen32 | Optic nerve involvement in CACNA1F phenotype: observations in a multicentric case series | AOU Meyer Childrens’ Hospital, Florence | Giacomo Maria BACCI |
(P) |
| 16:48-16:54 | OcGen16 | A Novel Mutation in PIKfyve Causes a Multi-System Autosomal Dominant Disorder with Iris Transillumination Defects | University of Alberta, Edmonton, Canada | Ian MACDONALD |
(P) |
| 16:54-17:00 | OcGen71 | Atypical X-linked Retinoschisis | Federal University of São Paulo – UNIFESP, Instituto Suel Abujamra – ISA | Mariana DA PALMA | (V) |
| 17:00-17:06 | OcGen25 | Previously Unreported Regressive Flecked Retina Phenotype in a Case of Initially Misdiagnosed Senior-Loken Syndrome | IRCCS Ospedale San Raffaele | Alessia AMATO |
(P) |
| 17:06-17:12 | OcGen9 | Analysis of a next generation retinopathy panel detects chromosome 1 segmental uniparental isodisomy in a patient with RPE65-related Leber congenital amaurosis | Federal University of São Paulo UNIFESP; Mendelics and Johns Hopkins University | Juliana SALLUM | (V) |
| 17:12-17:18 | OcGen87 | Whole Exome Sequencing Identified Novel Homozygous ALMS1 Mutations in a Tunisian Family with Alström Syndrome | Hedi Raies Institute of Ophthalmology, Tunis, Tunisia | Asma HASSAIRI | (V) |
| 17:18-17:24 | OcGen100 | Atypical Electrophysiological Profile of a Missense Mutation in BEST1 | Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA | Rebecca SCHUR | (V) |
| 17:24-17:30 | OcGen44 | The Usher Syndrome 1B Spectrum Includes Mild Cases | Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium | Filip VAN DEN BROECK |
(P) |
| 17:30-17:36 | OcGen94 | Blue Cone Monochromatism with foveal hypoplasia caused by the concomitant effect of variants in OPN1LW/OPN1MW and GPR143 genes | Bambino Gesù Children’s Hospital, Rome, Italy | Giancarlo IAROSSI |
(P) |
| 17:36-17:42 | OcGen55 | Clinically diagnosed dominant cystoid macular dystrophy presenting with a peculiar phenotype | IRCCS Ospedale San Raffaele, Milan, Italy | Alessia AMATO |
(P) |
| 17:42-17:48 | OcGen67 | A Syndrome of Hearing Loss and FEVR in a Girl with Biallelic FZD4 variants | Dalhousie University | Sarah VAN DER ENDE | (V) |
| 17:48-17:54 | OcGen3 | Novel biallelic AHR splice site mutation cause isolated foveal hypoplasia in Saudi patient | College of Medicine, King Saud University, Riyadh, Saudi Arabia. | Basamat AL MOALLEM | (V) |
| 17:54-18:00 | OcGen50 | Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates | Eye Institute, Cleveland Clinic Abu Dhabi; United Arab Emirates | Arif O KHAN | (V) |
| 18:00-18:06 | OcGen5 | Macular dystrophies with secondary CNV – diagnosis and treatment | 1Eye hospital, University Medical centre Ljubljana, Slovenia | Martina JARC-VIDMAR |
(P) |
| 18:06-18:12 | OcGen88 | OCT-Angiography Assessing Quiescent and Active Choroidal Neovascularization In Retinitis Pigmentosa Associated with PRPH2 Pathogenic Variant | Hedi Raies Institute of Ophthalmology, Tunis, Tunisia | Emna OTHMANI | (V) |
| 18:12-18:18 | OcGen8 | Long-Term Results of Planned Preterm Delivery and Treatment of a Child with Norrie Disease | Cincinnati Children’s Hospital Medical Center, Cincinnati | Virginia MIRALDI UTZ | (V) |
ALL SESSIONS ARE TRANSMITTED VIRTUALLY AND RECORDED FOR LATER VIEWING BY MEETING REGISTRANTS AND ISGEDR MEMBERS
Friday, September 3rd, 2021 |
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Retinoblastoma Session 1 – 9:15-10:00 hrs
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Moderators: Christina Stathopoulos and Annette Moll |
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| 9:15-9:22 | Abstract Rb23 | Imaging Phenotype of Retinoblastoma with MYCN Amplification without RB1 Mutation: a Multicenter Case Control Study | Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam, the Netherlands | Christiaan de Bloeme | (P) |
| 9:22-9:29 | Abstract Rb21 | Results of a Second Multicenter Prospective French National Study on the Postoperative Treatment of Unilateral Retinoblastoma after Primary Enucleation | Institut Curie | Isabelle Aerts | (V) |
| 9:29-9.36 | Abstract Rb43 | Long Term Efficacy and Safety of Intravitreal Chemotherapy for Vitreous Seeding in Retinoblastoma | Jules Gonin Eye Hospital | Christina Stathopoulos | (P) |
| 9:36-9:43 | Abstract Rb34 | Long-Term Efficacy, Safety and Toxicity of Intracameral Chemotherapy for Spontaneous Primary and Secondary Aqueous Seeding in Retinoblastoma | Hôpital Ophtalmique Jules-Gonin, Université de Lausanne,Switzerland | Francis Munier |
(P) |
| 9:43-9:50 | Abstract Rb11 | Subsequent Malignant Neoplasms In The Pediatric Age In Retinoblastoma Survivors In Argentina | Hospital JP Garrahan | Gabriela Villanueva | (V) |
Retinoblastoma Session 2
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Moderators: Alexandre Moulin and Josephine Dorsman |
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| 10:00-10:20 | Invited Speaker | Description and clinical relevance of two molecular retinoblastoma subtypes | Guillermo Chantada |
(V) |
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| 10:20-10:27 | Abstract Rb22 | Preclinical Platform of Disseminated Retinoblastoma | Consejo Nacional de Investigaciones Científicas y Técnicas – CONICET | Santiago Zugbi | (V) |
| 10:27-10:34 | Abstract Rb4 | MYCN amplification levels in primary retinoblastoma tumors analyzed by Multiple Ligation-dependent Probe Amplification | Royal London Hospital, Barts Health NHS Trust, London | M Ashwin Reddy | (V) |
| 10:34-10:41 | Abstract Rb42 | Pan-Cancer Insights for New Retinoblastoma Therapies | Lunenfeld Tanenbaum Research Institute | Rod Bremner | (V) |
| 10:41-10:48 | Abstract Rb41 | H3K27Ac profiling to elucidate the epigenetic identity of retinoblastoma | Fondation Asile des Aveugles, University of Lausanne, Switzerland | Adeline Berger | (P) |
| 10:48-10:55 | Abstract Rb39 | Multimodality Treatment Including Intra-Arterial Chemotherapy for Disseminated Retinoblastoma | National Cancer Institute (Brazil) | Nathalia Grigorovski | (V) |
11:00 to 11:30 – COFFEE BREAK |
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Retinoblastoma Session 3
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Moderators: Manoj Parulekar and Yvan Arsenjevic |
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| 11:30-11:38 | Abstract Rb15 | Ocular and systemic safety of repeated intravitreal high doses of topotecan in rabbits: implications in retinoblastoma treatment. | Hospital de Pediatria JP Garrahan, Argentina | Paula Schaiquevich | (V) |
| 11:38-11:46 | Abstract Rb16 | High-throughput screening of drug libraries identifies a new synergistic drug combination for the treatment of retinoblastoma | Ecole Polytechnique Fédérale de Lausanne (EPFL), Switzerland | Po-Jen Tseng | (P) |
| 11:46-11:54 | Abstract Rb19 | Three-dimensional In Vitro Retinoblastoma Model to Evaluate Drugs in Combination with Focal Therapy | Ecole Polytechnique Fédérale de Lausanne | Irina Sinenko |
(P) |
| 11:54-12:02 | Abstract Rb33 | An Immunohistochemistry Panel as a Tool for Identifying Retinoblastoma Molecular Subtypes | Hospital de Pediatría JP Garrahan | Rosario Aschero | (V) |
| 12:02-12:10 | Abstract Rb24 | Phase I Retinoblastoma Trial of Sustained-Release Episceral Topotecan | Hospital for Sick Children (SickKids) | Brenda Gallie | (V) |
| 12:10-12:18 | Abstract Rb40 | Treatments Required for Retinoblastoma Following Experimental Chemoplaque Versus Standard Care | The Hospital for Sick Children, University of Toronto, Canada | Isabella Janusonis | (V) |
12:30 to 13:30 – LUNCH |
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13:30-14:30 hrs Robert Ellsworth Lecture |
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Francis Munier, Lausanne – Introduction to the Robert Ellsworth Lecture |
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13.40-14.30 hrs David H ABRAMSON – ROBERT ELLSWORTH LECTURE: “Cell Free DNA in Retinoblastoma: What we know and what we don’t know in 2021” |
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Retinoblastoma Session 4
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Moderators: Lohmann Dietmar and Charlotte Dommering |
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| 13.40-14.30 | Robert Ellsworth Lecture | Cell Free DNA in Retinoblastoma: What we know and what we don’t know in 2021 | Weill/Cornell Medical Center | David H ABRAMSON | (V) |
| 14:30-14:38 | Abstract Rb1 | Molecular diagnosis of retinoblastoma by circulating tumor DNA analysis | Institut Curie | Irene Jiménez | (V) |
| 14:38-14:45 | Abstract Rb18 | cf-DNA and EVs as Sources for Biomarkers for Early Detection of Second Primary Malignancies in Patients with Heritable Retinoblastoma | University Hospital Essen and University Duisburg-Essen, Essen, Germany | Nicole Barwinski |
(P) |
| 14:45-14:52 | Abstract Rb30 | Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers | Department of Genetics, Institut Curie, Paris, France | Lisa Golmard | (V) |
| 14:52-15:00 | Abstract Rb2 | The Aqueous Humor Liquid Biopsy for Diagnosis, Prognosis and Treatment monitoring of Retinoblastoma | University of Southern California, CHLA | Jesse Berry | (V) |
| 15:00-15:07 | Abstract Rb20 | Investigating the Aqueous Humor and tumor tissue of Naïve retinoblastoma eyes in a Next‐Generation Sequencing Panel for Pediatric Malignancies | UNIFESP São Paulo, Brazil | Luiz Fernando Teixeira | (V) |
| 15:07-15:14 | Abstract Rb9 | Proteomics of aqueous humor for biomarkers discovery in retinoblastoma | Ospedale Pediatrico Bambino Gesù, Rome, Italy | Angela Galardi | (V) |
| 15:30-16:00 | Invited lecture | Retinal Cell Types as a Basis for Ophthalmology in the 21st Century | WHO | Botond ROSKA |
(V) |
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15.30-16.00 hrs Botond ROSKA – INVITED LECTURE: “Retinal Cell Types as a Basis for Ophthalmology in the 21st Century” |
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16.00 to 16.30 – COFFEE BREAK |
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Retinoblastoma Session 5
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Moderators: Maja Beck-Popovic and Antonino Romanzo |
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| 16:30-16:50 | Invited lecture | WHO Global Initiative for Childhood Cancer: Retinoblastoma Priority Program and Collaborations | WHO | Sandra Luna-Fineman | (V) |
| 16:50-17:00 | Invited lecture | Retinoblastoma Survival: A Prospective Analysis of 4064 Patients from 149 Countries | WHO | Didi Fabian | (V) |
| 17:00-17:05 | Abstract Rb5 | AMCC program in subsaharan Africa | AMCC | Laurence Desjardin | (V) |
| 17:05-17:10 | Abstract Rb31 | Characterization of international partnerships in global retinoblastoma care and research: A network analysis. | The Hospital for Sick Children, Toronto, Canada | Helen Dimaras |
(V) |
| 17:10-17:15 | Abstract Rb8 | How Telemedicine and Centralized Care Changed the Natural History of Retinoblastoma in Jordan: Analysis of 478 Patients | King Hussein Cancer Center, Amman, Jordan | Yacoub A Yousef | (V) |
| 17:15-17:20 | Abstract Rb17 | MRI of retinoblastoma with orbital cellulitis and impact of inflammation on interpretation of metastatic risk factors | Vrije Universiteit Amsterdam, Cancer Center Amsterdam, Amsterdam | Marcus de Jong | (P) |
| 17:20-17:25 | Abstract Rb3 | At what age could screening for familial be discontinued? A systematic review. | Amsterdam University Medical Centers | Annette Moll |
(P) |
ALL SESSIONS ARE TRANSMITTED VIRTUALLY AND RECORDED FOR LATER VIEWING BY MEETING REGISTRANTS AND ISGEDR MEMBERS
Saturday, September 4th, 2021 |
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Session 5 – 9:00-10:20 hrs Ophthalmic Genetics 5
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Moderators in person: Mark PENNESI & Alex LEVIN |
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| 9:00-9:08 | OcGen13 | Accelerating research in rare inherited retinal disorders (IRDs) through an international Consortium | Oregon Health & Science University – Casey Eye Institute | Mark Pennesi |
(P) |
| 9:08-9:16 | OcGen30 | Experiences of Genetic Testing Among Individuals With Retinitis Pigmentosa | Thomas Jefferson University | Emily Krauss | (V) |
| 9:16-9.24 | OcGen54 | Inherited Retinal Degeneration Genetic Testing Landscape Study Europe and Australia | Retina International | Orla Galvin | (V) |
| 9:24-9:32 | OcGen12 | FFB Consortium Gene Poll: An International Assessment of IRD Gene Distribution and IRD Clinical Practices | Kellogg Eye Center -University of Michigan | Kari Branham | (V) |
| 9:32-9:40 | OcGen26 | Practice Patterns and Needs Assessment of Ophthalmologists for Inherited Eye Disorders: Do we need a subspecialty as Ophthalmic Genetics? | Gulhane Medical Facility, Ankara, Turkey | Fulya Yaylacioglu | (V) |
| 9:40-9:48 | OcGen33 | Patient Pathways and Actors in Rare Eye Diseases: the French Example French rare sensory disease network SENSGENE | CHRU Strasbourg, France | Caroline Iberg |
(P) |
| 9:48-9:56 | OcGen17 | Can the low income countries have ocular gene therapy? | University of Rochester | Alex Levin |
(P) |
| 9:56-10.04 | OcGen10 | RPE65-related IRDs and gene therapy: a multicentre narrative medicine to investigate patients’, caregivers’, and physicians’ expectations | University of Florence, Florence, Italy | Giacomo Bacci |
(P) |
| 10:04-10.12 | OcGen72 | Telemedicine-Based Approach to Caring for Patients with Inherited Retinal Diseases: Patient Satisfaction and Diagnostic Testing Completion Rates | Emory University School of Medicine | Nieraj Jain | (V) |
10:20-11:00 hrs Ophthalmic Genetics 6
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Moderators in person: Ken NISCHAL & Christina GERTH-KAHLERT |
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| 10:20-10:26 | OcGen59 | Congenital Primary Aphakia Associated with Microphthalmia with Linear Skin Defects Syndrome (MLS) | UPMC Children’s Hospital of Pittsburgh | Ken Nischal |
(P) |
| 10:26-10:32 | OcGen63 | Absence/Hypoplasia of Extraocular Muscles Associated with Anterior Segment Dysgenesis | University of Michigan | Lev Prasov | (V) |
| 10:32-10.38 | OcGen66 | Identification of a Novel PRDM5 Mutation in a Family with Brittle Cornea Syndrome. | Chulalongkorn University, Bangkok, Thailand | Phattrawan Pisuchpen | (V) |
| 10:38-10:44 | OcGen18 | and other systemic manifestations of plasminogen deficiency, caused by variants in the PLG gene | Charité-University Hospital Berlin, Germany | Madlen Reschke |
(P) |
| 10:44-10:52 | OcGen65 | Linear Sebaceous Nevus Syndrome due to a Somatic KRAS A146T Variants | UPMC Children’s Hospital of Pittsburgh | Hannah Scanga |
(P) |
11:00 to 11:30 – COFFEE BREAK |
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11:30-12:30 hrs Ophthalmic Genetics 7
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Moderators in person: Rola BA ABBAD & Guy LENAERS |
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| 11:30-11:36 | OcGen21 | Reversible Bilateral Vision Loss Mimicking Lhon In A Patient With Exacerbation Of Cystic Fibrosis And Opa3 Gene Mutation | Eye Hospital, University Medical Centre Ljubljana, Slovenia | Lea KOVAC | (V) |
| 11:36-11:42 | OcGen103 | Identifying New Candidate Genes In Patients With Hereditary Optic Neuropathy | King Khaled Eye Specialist Hospital | Rola BA-ABBAD |
(P) |
| 11:42-11.48 | OcGen98 | Is it LHON? | Department of Ophthalmology Medical University Graz | Katharina VALENTIN | (V) |
| 11:48-11:54 | OcGen91 | A Novel Homozygous Variant in HMBS is Associated with Optic Atrophy and Pyramidal Features | University of Strasbourg, INSERM U1112 Génétique Médicale | Louise F PORTER |
(P) |
| 11:54-12:00 | OcGen97 | Long-Term Follow-Up of Two Patients with LHON Caused by DNAJC30 Mutation | Clinical Centre of Serbia, Belgrade, Serbia | Sanja PETROVIC PAJIC |
(P) |
| 12:00-12:06 | OcGen75 | Autonomic Manifestations in Congenital Cranial Dysinnervation Syndromes | Makati Medical Center, Makati City, Philippines | Manuel Benjamin IBANEZ | (V) |
| 12:06-12:12 | OcGen62 | Carbonic Anhydrase II Deficiency: A Rare Cause of Infantile Optic Nerve Atrophy. | Tallinn Children’s Hospital, Estonia; University of Helsinki, Finland | Eva ROOMETS | (V) |
| 12:12-12:18 | OcGen47 | Phenotype analysis of 75 informative families of Indian origin with primary concomitant horizontal strabismus | Lady Hardinge Medical College, University of Delhi, New Delhi, India | Zia CHAUDURI | (V) |
| 12:18-12:24 | OcGen58 | Expanding the Phenotype of DNM1L-Related Autosomal Dominant Optic Atrophy (OPA5): Report of a Novel Variant with Early-onset Atrophy and Significant Intrafamilial Variability | UPMC Children’s Hospital of Pittsburgh | Hannah SCANGA |
(P) |
12:30 to 13:30 – LUNCH |
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Session 6 – 13.30-15.50 hrs
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13.30-13.40 hrs Elias I TRABOULSI, Cleveland, OH & Albert Franceschetti, Lausanne – Introduction of the Adolphe Franceschetti Franceschetti Lecturer |
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13.40-14.20 hrs Ian MACDONALD (in person) – FRANCESCHETTI LECTURE: Choroideremia – Lessons From Research and Clinical Trials |
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14.20-15.20 hrs Symposium: Mitochondrial Genetics & Optic Neuropathies |
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Moderators: Guy LENAERS & Andrea SODI |
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| 14.20-14.35 | OcGenInvited10 | New Insights into Leber Hereditary Optic Neuropathy | London & Cambridge | Patrick YU-WAI-MAN | (V) |
| 14.35-14.50 | OcGenInvited11 | Gene Therapy for Leber Hereditary Optic Neuropathy | Paris | Cathérine VIGNAL-CLERMONT | (V) |
| 14.50-15.05 | OcGenInvited12 | New insights into Dominant Optic Atrophy | Angers | Guy LENAERS |
(P) |
| 15.05-15.20 | OcGenInvited1 | Dominant Optic Atrophy – Opportunities for Advanced Therapies | University Hospital Wales | Marcela VOTRUBA | (V) |
15.20 to 15.30hrs – Francis MUNIER, Lausanne
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ALL SESSIONS ARE TRANSMITTED VIRTUALLY AND RECORDED FOR LATER VIEWING BY MEETING REGISTRANTS AND ISGEDR MEMBERS
EURbG Meeting Lausanne 2021 – Programme
European Group of Retinoblastoma (EURbG) Meeting
Thursday, September 2nd, 2021 Start at 11.30, end at 16.00
11.30 Introduction EURBG chairs: Maja Beck-Popovic and Annette Moll
- Welcome
- EURBG update
- EURBG papers policy
- EURBG data & data commons
- Collaboration
Start with feedback from WGs: 15 min presentation and 15 minutes discussion
No study results at Thursday, please present at Friday in Rb session.
- What happens last year?
- How many WG members?
- New WG leader?
- Future plans.
12.00 WG1: Conservative Therapy – Chairs: Francis Munier and Maja Beck-Popovic, Switzerland
12.30-13.30 LUNCH
13.30 WG2 : Non-Conservative Therapy – Chair: François Doz, France
14.00 WG 3. Late Effects, Quality – Chair: Annette Moll, The Netherlands
14.30 WG 4. Constitutional Mutation Analysis and Genomics, Basic Research, Tissue Banking –
Chairs: Dietmar Lohmann and Petra Ketteler, Germany
15.00 WP7: Imaging/ERIC group – Chair: Pim de Graaf, The Netherlands
15.30 WG5: Dissemination of the Project, Networking, Education and Web Resources –
Chairs: Tomas Kepak, Czech Republic, Rejin Kebudi, Turkey, Manoj Parulekar and Helen Jenkinson, UK
WG6: Parental Groups – Chair: Catherine Bothorel and Erika Leiman, France
New working group leaders
16.00 END OF EURBG meeting & COFFEE BREAK
ISGEDR 2021 - Lausanne
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