Saturday morning

Welcome message. Prof. Jorge Alió y Sanz, Miguel Hernández UniversityBarbara Poli, Aniridia Europe; Yolanda Asenjo García, Spanish Aniridia Association; Dr. José M. Ramírez Sebastián, SIREV president; D. Domingo Orozco Beltrán, Miguel Hernández University, Investigation Vice chancellor; Dra. María Teresa Caballero, Director of the Secretariat of Studies at the University of Alicante; Dr. Antonio Piñero Bustamante, Spanish Society of Ophthalmology President.
Introduction of the agenda and presentation of the Monographic issue on Aniridia in “Archivos”, scientific review of the Spanish Ophthalmology Society SEO and statistical report of Aniridia in Spain. Prof. Jorge Alió y Sanz, Miguel Hernández University
Molecular diagnosis of Aniridia and allied conditions. Dr. Marta Corton, Jiménez Díaz Foundation University Hospital-IIS, Spain.
Role of the European Networks and Registries in the development of new therapeutic strategies for Aniridia. Prof. J. Carlos Pastor. IOBA. Emeritus Professor University of ValladolidSpain.

Genetics and WAGR Spectrum

A cross-border study of the functional consequences of PAX6 missense mutation. Alessandra Franzoni, PhD, ASUFC University Hospital of Udine
NGS and WGS as a combined clinical diagnostic strategy for aniridia and aniridia-like disorders: a French cohort of 450 patients including a total of 185 PAX6 positive families. Prof. Sophie Valleix, Service de Médecine Génomique des Maladies de Système et d’Organe APHP. Centre Université de Paris ; FMG_Hôpital Cochin
Genetic and reproductive counselling. Dr. Fiona Blanco-Kelly, Jiménez Díaz Foundation University Hospital-IIS, Spain
Lipid Nanoparticle-Mediated Delivery of CRISPR RNP Results in Wide-Spread In Vivo Genome Editing in Mouse CorneaProf. Elizabeth M. Simpson, British Columbia University, Canada.
Overcoming barriers and accelerating research: lessons from the WAGR syndrome patient registry. Kelly Trout, IWSA president, USA.
Defining the WAGR Spectrum: Updates from the WAGR Syndrome Patient Registry. Dr. Jennifer Kalish, Children’s Hospital of Philadelphia, USA.
Consequences of PAX6 mutations in the brain and/or endocrine system. Prof. James D. Lauderdale, University of Georgia, USA.
Nephroblastoma in patients with WAGR syndrome and clinical consequences. Prof. Dr. Norbert Graf, Saarland University, Germany.

What’s new in Eye Research and Clinical Care?

Changes in the Crystalline Lens in Aniridia. Pr. Rafael Barraquer, International University of Catalonia.
Cultivated stem cells for corneal failure due to limbal deficiency in congenital aniridia. Dr. José María Herreras, University Institute of Applied Ophthalmobiology IOBA, Spain.
Light management and vision correction with smart contact lenses. Prof. Andrés Vásquez Quintero, Ghent University, Belgium.
Pheno-genotypic correlations in foveolar aplasia in aniridia. Dr. Pilar Casas de Llera, Fernández- Casas clinic, Spain.
Aniridia: relentless inflammation: mechanisms and potential new treatment. Giulio Ferrari, Vita-Salute San Raffaele University, Italy.
Cataract surgery in the aniridic eye. Dr. Juan Álvarez de Toledo, Barraquer Clinic, Spain.
Aniridic Glaucoma: Mechanisms and Management, including MIGS. Prof. Peter Netland, University of Virginia, USA.
Corneal Aspects of Congenital Aniridia. Dr. Fabian Fries, Saarland University, Germany.

Saturday Afternoon

Overview of the latest activity in collaborative European aniridia research. Prof. Neil Lagali. Linköping University, Sweden
Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype. Dr. Dominique Bremond Gignac, OPTHARA, France
Identification and validation of small compounds to treat aniridia-related keratopathy. Dr. Daniel Aberdam. INSERM. France.
iPSC as a tool for understanding aniridia-associated keratopathy. Prof. Heli Skottman, Tampere University, Finland.
Efficacy of novel repurposed readthrough drugs using aniridia patient iPSC-derived retina and LESC models. Dulce Lima Cunha, UCL Institute of Ophthalmology replacing Dr. Mariya Moosajee. Moorfields Eye Hospital, UK.
“RNAseq of  aniridia iPSC-derived limbal epithelial stem cells reveals early defects in limbal development” Dulce Lima Cunha, UCL Institute of Ophthalmology.
Corrects 75% of an Aniridia Pathogenic Variant in a Minimally Humanized Mouse Embryonic Stem Cell-Based Disease Model. Bethany Adair, University of British Columbia
“The Homburg Aniridia Center: cross-sectional analysis of 556 eyes” Nora Szentmary, Saarland University
“Deregulated pro- and anti-inflammatory cytokine mRNA profile in mild AAK tends to diminish in severe AAK” Tanja Stachon, Saarland University
“Functional reassessment of PAX6 single nucleotide variants found in patients with congenital aniridia.” Dr. Alexandra Filatova, Research Centre for Medical Genetics, Moscow (online participation)


Genetics Basis Summary.Prof. Carmen Ayuso, Jiménez Díaz Foundation-IIS, Spain
WAGR Spectrum Summary.Kelly Trout, IWSA president
Eye research and Clinical Care Summary.  Prof. Jorge Alió y Sanz, Miguel Hernández University.
Saturday COST Action Summary. Prof. Neil Lagali. Linköping University, Sweden
European project: “School for all, Seeing the invisible”. Victor García. RedTree. 
Early attention and stimulation. Sonia Rodríguez, Spanish National Organisation of the Blind (ONCE)
Collaboration and support to Spanish speaking countries. Carmen Aragonés, Spanish Aniridia Association Communication
Living with Aniridia. Yolanda Asenjo, Spanish Aniridia President, Spain
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