Aniridia - Aniridia: networking to address an unmet medical, scientific, and societal challenge

Abstract:

Aniridia is a devastating ocular disease requiring intensive eye care, social and community support from birth and throughout an individual's lifetime. A congenital genetic mutation causes an underdeveloped retina, cataract, glaucoma, and a progressive ocular surface disease of stem cell deficiency and loss of corneal transparency. Classified as a rare disease (ORPHA:77), aniridia is extremely challenging for the ophthalmologist, with very few effective treatments available. This stems from a lack of adequate-sized patient populations to conduct coordinated clinical and research activities, and a lack of information exchange in assessing and treating aniridia, with expertise typically limited to geographically-dispersed centers. The goals of ANIRIDIA-NET are therefore to:

  1. Build a large, inclusive EU network of ophthalmologists, scientists, trainees, aniridia patient organizations, industry, and special interest groups to create linkages and a rich training ground for a new generation of trainees;
  2. Improve aniridia management through evidence-based research, harmonized clinical protocols, pooling/sharing of samples and models, and consensus activities; and
  3. Stimulate development of novel diagnostics and treatments for aniridia based on innovative research in regenerative medicine/stem cells, investigational drugs, gene therapy, tissue engineering, transplantation, etc.

Although a rare disease, aniridia is associated with ocular surface pathology such as dry eye, inflammation, stem cell insufficiency, nerve degeneration, and vascularization - problems common to many ocular surface pathologies collectively affecting large populations. Greater collaboration and sharing of information and resources in the area of aniridia is therefore additionally expected to have significant benefits for the treatment of larger patient populations with ocular surface disease.

Project details

Action member: Claudio Nastruzzi

 Funding source: COST

Start date 11/04/2019 - end date 10/04/2023

Participants

  • Linköpings Universitet, Sweden - Chair
  • Medical University of Innsbruck, Austria
  • Ghent University Hospital, Belgium
  • University of Antwerp, Belgium
  • Medical University Varna, Bulgaria
  • Medical University Sofia, Bulgaria
  • Aarhus University Hospital, Denmark
  • Asper Biogene LLC, Estonia
  • University of Helsinki, Finland
  • University of Tampere, Finland
  • INSERM, France
  • University Hospital Necker Enfants malades / Paris V Descartes University, France
  • University of Cologne, Germany
  • Department of Ophthalmology, Germany
  • Aristotle University of Thessaloniki, Greece
  • Semmelweis University, Hungary
  • Trintiy College Dublin, Ireland
  • National University of Ireland, Galway, Ireland
  • Kaplan medical center, Israel
  • University of Ferrara, Italy
  • Fondazione Banca degli Occhi del Veneto ONLUS, Italy
  • RSU Riga Stradins University, Latvia
  • Radboud University, Netherlands
  • Maastricht University, Netherlands
  • Oslo University Hospital, Norway
  • Univerity of South-Eastern Norway, Norway
  • Medical University of Silesia, Poland
  • Universidade de Lisboa, Portugal
  • University of Belgrade, Serbia
  • Jozef Stefan Institute, Slovenia
  • Instituto de Microcirugía Ocular, Spain
  • Andalusian Initiative for Advanced Therapies, Spain
  • Tengbom, Sweden
  • Hacettepe University, Turkey
  • Ankara University, Turkey
  • Royal Liverpool University Hospital, United Kingdom
  • UCL, United Kingdom
  • Tirol Kliniken, Austria
  • Tissue bank Bioregeneration, Bulgaria
  • Aalborg University Hospital, Denmark
  • GÊNIRIS, France
  • University of Saarland, Germany
  • Irish Blood Transfusion Service National Blood Centre, Ireland
  • University of Turin, Italy
  • San Raffaele Scientific Institute, Italy
  • Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Spain
  • Vissum Innovation, Spain
  • Instituto de Neurociencias. Spain
  • Mehmet Akif Ersoy University, Turkey
  • University of Nottingham, United Kingdom
  • Newcastle University, United Kingdom
  • Ulster University, United Kingdom