June 2022

Friday 3 June

15.00-18.00 pm. Membership meeting Aniridia Europe

12:00 – 18:00 pm Ophthalmologic study and genetic assessment for patients with aniridia and relatives at Vissum Miranza facilities.

20:30 pm Welcome Networking dinner (Speakers, Chairs, Committee and Board members)

Saturday 4 June

Alicante Auditorium

8:30 h. Registration

9:00 h. Welcome message. Prof. Jorge Alió y Sanz, Miguel Hernández University; Barbara 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.

9.30 h 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

10.00 h. Molecular diagnosis of Aniridia and allied conditions. Dr. Marta Corton, Jiménez Díaz Foundation University Hospital-IIS, Spain.

10:30 h. 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 Valladolid, Spain.

Tabarca Meeting room

Genetics and WAGR Spectrum

11:00 to 12:30 h. Aniridia genetic basis: from research to clinical application. Chairperson: Prof. Carmen Ayuso, Jiménez Díaz Foundation-IIS, Spain

  • 11:00 h. A cross-border study of the functional consequences of PAX6 missense mutation. Alessandra Franzoni, PhD, ASUFC University Hospital of Udine
  • 11:20 h. 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
  • 11:40 h. Genetic and reproductive counselling. Dr. Fiona Blanco-Kelly, Jiménez Díaz Foundation University Hospital-IIS, Spain
  • 12:00 h. Lipid Nanoparticle-Mediated Delivery of CRISPR RNP Results in Wide-Spread In Vivo Genome Editing in Mouse Cornea. Prof. Elizabeth M. Simpson, British Columbia University, Canada.

12:30 h. Coffee Break

12:45 to 14:15 h. WAGR Spectrum. Chairperson: Kelly Trout, International WAGR Syndrome Association president, USA.

  • 12:45 h. Overcoming barriers and accelerating research: lessons from the WAGR syndrome patient registry. Kelly Trout, IWSA president, USA.
  • 13:05 h. Defining the WAGR Spectrum: Updates from the WAGR Syndrome Patient Registry. Dr. Jennifer Kalish, Children’s Hospital of Philadelphia, USA.

  • 13:25 h. Consequences of PAX6 mutations in the brain and/or endocrine system. Prof. James D. Lauderdale, University of Georgia, USA.
  • 13:45 h. Nephroblastoma in patients with WAGR syndrome and clinical consequences. Prof. Dr. Norbert Graf, Saarland University, Germany.
  • 14:05 h. Aniridia and WAGR Centre in Moscow, Dr. Natella Shukanova (online video)

Altea Meeting room

What’s new in Eye Research and Clinical Care?

11:00 to 14:15 h. Chairpersons: Prof. Jorge Alió y Sanz, Miguel Hernández University; and Prof. Rafael Barraquer, Universitat Internacional de Catalunya, Spain.

  • 11:00 h. Changes in the Crystalline Lens in Aniridia. Pr. Rafael Barraquer, International University of Catalonia
  • 11:20 h. Corneal Aspects of Congenital Aniridia. Dr. Fabian Fries, Saarland University, Germany.
  • 11:40 h. Cultivated stem cells for corneal failure due to limbal deficiency in congenital aniridia. Dr. José María Herreras, University Institute of Applied Ophthalmobiology IOBA, Spain.
  • 12:00 h. Light management and vision correction with smart contact lenses. Prof. Andrés Vásquez Quintero, Ghent University, Belgium.

12:20 Coffee Break

  • 12:35 h. Pheno-genotypic correlations in foveolar aplasia in aniridia. Dr. Pilar Casas de Llera, Fernández- Casas clinic, Spain.
  • 12:55 h. Aniridia: relentless inflammation: mechanisms and potential new treatment. Giulio Ferrari, Vita-Salute San Raffaele University, Italy.
  • 13:15 h. Cataract surgery in the aniridic eye. Dr. Juan Álvarez de Toledo, Barraquer Clinic, Spain.
  • 13:35 h. Aniridic Glaucoma: Mechanisms and Management, including MIGS. Prof. Peter Netland, University of Virginia, USA.
  • 13:55 h. Questions and answers / Panel discussion

14:15 h. Lunch

Saturday Afternoon

Alicante Auditorium

15:30 h. Aniridia-net COST action CA18116: European cooperation in aniridia research. Chairperson: Dr. Juliana Martínez Atienza

  • 15:30 h. Overview of the latest activity in collaborative European aniridia research. Prof. Neil Lagali. Linköping University, Sweden
  • 15:45 h. Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype. Dr. Dominique Bremond Gignac, OPTHARA, France
  • 16:00 h. Identification and validation of small compounds to treat aniridia-related keratopathy. Dr. Daniel Aberdam. INSERM. France.
  • 16:15 h. iPSC as a tool for understanding aniridia-associated keratopathy. Prof. Heli Skottman, Tampere University, Finland.
  • 16:30 h. 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.
  • 16:45. Questions and answers / Panel discussion

17:20 Coffee Break

17:35 – 18:30h Highlights. Presentation of selected posters and communications. Rapid fire session for Early Career Scientists. 

“RNAseq of  aniridia iPSC-derived limbal epithelial stem cells reveals early defects in limbal development” Dulce Lima Cunha, UCL Institute of Ophthalmology.

“Adenine Base Editor 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)

Sunday 5 June

Alicante Auditorium

9:00- 12.00 h. Saturday panels summary for patients by a representative of each table.

  • 9.00-9.25 h. Genetics Basis Summary.
    • Prof. Carmen Ayuso, Jiménez Díaz Foundation-IIS, Spain


  • 9.30- 9.55 h. WAGR Spectrum Summary.
    • Kelly Trout, IWSA president


  • 10.00-10.50 h. Eye research and Clinical Care Summary. 
    • Dr. Juan Álvarez de Toledo, Barraquer Clinic

11:00 h-11.20 h. Coffee Break

  • 11.30- 11.55 h. Saturday COST Action Summary. 
    • Prof. Neil Lagali. Linköping University, Sweden


12:00 h. Round tables for patients.

12.00-13.00 h. Social inclusion at school:

  • 12.00-12.30 h. Early attention and stimulation. Sonia Rodríguez, Spanish National Organisation of the Blind (ONCE)
  • 12.30-13.00 h. European project: “School for all, Seeing the invisible”. Victor García. RedTree. 


13. 00-13.45 h. International collaboration and life story:

  • 13.00-13:15 h. Collaboration and support to Spanish speaking countries. Carmen Aragonés, Spanish Aniridia Association Communication
  • 13:15 to 13:30 h.  Living with Aniridia. Yolanda Asenjo, Spanish Aniridia President, Spain

13:45 h. Official closing act. Prof. Jorge Alió y Sanz, Miguel Hernández University; Barbara Poli, Aniridia Europe; Ivana Kildsgaard, Aniridia Sweden; Yolanda Asenjo García, Spanish Aniridia Association; Local Authorities

14:15 Lunch


COST (European Cooperation in Science and Technology) is a funding agency for research and innovation networks. Our Actions help connect research initiatives across Europe and enable scientists to grow their ideas by sharing them with their peers. This boosts their research, career and innovation. | www.cost.eu

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#CA18116 COST Action https://aniridia-net.eu/ 

TW: @AniridiaNet

Aniridia Europe
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