Conference programme

Location: Hotel Blique by Nobis, Stockholm (Gävlegatan 18)

Friday, 31 May

10.00

Registration opens

12.00 – 13.00

Lunch
13.00 – 13.30

Opening ceremony, welcome and introduction

Scientific committee:
Prof. Neil Lagali, Linköping university, Sweden;
Berit Byström, MD, Docent, University Hospital of Umeå, Sweden;
Branka Samolov, MD, PhD, S:t Erik eye hospital, Sweden;
Aniridia organizations:
Barbara Poli, President of Aniridia Europe;
Ivana Kildsgaard, President of Aniridia Sweden;
Welcome speech:
Beatrice Peebo, MD, Assist. Prof., Clinic Manager, S:t Erik eye hospital, Sweden

13.30 – 14.00
Opening keynote lecture
“Dry eye disease – myths and facts”,
Prof. Tor Paaske Utheim, MD, Oslo university hospital, Norway
14.00 – 15.00
Session: Glaucoma and aniridia
Chairs: Erlend Christoffer Sommer Landsend & Dominique Bremond-Gignac
“Glaucoma in congenital aniridia. Clinical Considerations and Management”,
Amelie Botling Taube, MD, PhD, S:t Erik eye hospital, Sweden;
“Surgical management of aniridic glaucoma”,
Prof. Peter A. Netland, MD, University of Virginia School of Medicine, USA
15.00 – 15.30
Coffee break
15.30 – 17.00
Session: New research areas in aniridia
Chairs: Peter Netland & Tor Paaske Utheim
“Aniridia and the brain”,
James Lauderdale, Assoc. Prof., University of Georgia, USA;
“Health-related quality of life in congenital aniridia”,
Erlend Christoffer Sommer Landsend, MD, PhD, Oslo university hospital, Norway;
“Aniridia stories: Investigating congenital aniridia through narrative medicine”,
Chiara Ancona, MD, University of Brescia, Italy;
“Subjective symptoms and social consequences for patients with aniridia: Results of the pan-European COST survey study”,
Renata Schoffer, MD, Region Östergötland, Sweden
17.00 – 17.30
Panel discussion: Aniridia as a syndrome or spectrum? Hinders and barriers for cross-European clinical management guidelines
Moderator: James Lauderdale
Participants: Peter Netland, Dominique Bremond-Gignac, Erlend Christoffer Sommer Landsend & Sophie Valleix

18.45

Meet-up and check-in at Stockholm City Hall inner yard – Address: Hantverkargatan 1

19.00

Reception and buffet dinner at Stockholm City Hall, hosted by the City of Stockholm and the Region of Stockholm

Saturday, 1 June

08.30 – 09.30

Session: Artificial iris, cataract, posterior segment
Chair: Bogumil Wowra
“Artificial iris in aniridia: A dilemma”,
Vito Romano, MD, Assoc. Prof., University of Brescia, Italy;
“Posterior segment anomalies in PAX6-related congenital aniridia”,
Prof. Dominique Bremond-Gignac, MD, University hospital Necker enfants malades, APHP, France

09.30 – 10.30

Session: Keratopathy in aniridia
Chairs: Christina Grupcheva & Miriam Barbany Rodríguez
“Keratopathy in aniridia, clinical features and treatment options”,
Branka Samolov, MD, PhD, S:t Erik eye hospital, Sweden
& Per Montan, MD, Assist. Prof., S:t Erik eye hospital, Sweden;
“Lessons learned from a Swedish register study of aniridia”,
Berit Byström, MD, Docent, Umeå University, Sweden
& Branka Samolov, MD, PhD, S:t Erik eye hospital, Sweden;
“Outcomes of Corneal Transplantation to Treat Aniridia-Associated Keratopathy: Long Term Outcomes from UK Transplant Registry”,
Prof. Francisco Figueiredo, MD, Newcastle university, United Kingdom
10.30 – 11.00 Coffee break

11.00 – 12.00

Session: Stem cells and aniridia
Chairs: Stefano Ferrari & Francisco Figueiredo
“Molecular insights into aniridia-associated keratopathy”,
Berit Byström, MD, Docent, Umeå University, Sweden;
“Multi-omics analysis of aniridia stem cell-derived cornea cells”,
Dulce Lima Cunha, PhD, Radboud university, the Netherlands;
“Pluripotent stem cells as tools to study and treat limbal stem cell deficiency”,
Tanja Ilmarinen, Adj. Prof., Tampere university, Finland

12.00 – 13.30

Lunch and poster rapid fire presentations

13.30 – 14.30

Session: Genetics and aniridia
Chairs: Dominique Bremond-Gignac & James Lauderdale
“Genetic diagnosis, clinical implications and patient management”,
Prof. Mariya Moosajee, MD, UCL institute of ophthalmololgy & the Francis Crick institute, United Kingdom;
“NGS, WGS, optical mapping, and Hi-C tools to solve and interpret pathogenic mechanisms of congenital iris malformations: French experience from a cohort of more than 300 families”,
Prof. Sophie Valleix, MD, University hospital Necker enfants malades, France;
“Syndromic aniridia and metabolomics”,
Prof. Mariya Moosajee, MD, UCL institute of ophthalmology & the Francis Crick institute, United Kingdom

14.30 – 15.00

Panel discussion: Challenges with genetic diagnosis, genotype-phenotype, and gene therapy; patient Q & A session
Moderator: Peter Netland
Participants: Neil Lagali, Mariya Moosajee, Sophie Valleix & James Lauderdale

15.00 – 15.30

Coffee break

15.30 – 17.00

Session: Management of anirida and challenges for children
Chairs: Laura Mauring & Bogumil Wowra
“Management of infants and children with aniridia at a German national referral center”,
Prof. Barbara Käsmann-Kellner, MD, Saarland university, Germany;
“Corneal aspects of congenital aniridia”,
Fabian Fries, MD, Saarland university medical center, Germany;
“Management of aniridia – European guidelines”,
Prof. Dominique Bremond-Gignac, MD, University hospital Necker enfants malades, APHP, France;
“Cohort data from 319 subjects with congenital aniridia at the Schwiete Center”,
Prof. Nóra Szentmáry, MD, Saarland university medical center, Germany

17.00 – 17.30

Panel discussion: Differences and similarities in management of aniridia in children
Moderator: Bogumil Wowra
Participants: Dominique Bremond-Gignac, Erlend Christoffer Sommer Landsend, Laura Meuring & Barbara Käsmann-Kellner

19.00

Dinner at the hotel restaurant

Sunday, 2 June

08.30 – 10.30

Session: New therapies
Chairs: Neil Lagali & Stefano Ferrari
“Gene therapy approaches for aniridia”,
Prof. Elizabeth M. Simpson, University of British Columbia, Canada;
“Dynamic and customized iris embedded inside a scleral lens for aniridia patients”,
Andrés Vásquez Quintero, Assoc. Prof., Azalea Vision, Belgium;
“Innovations in sutureless transplantation of amniotic membrane for the outpatient management of ocular surface diseases”,
Andrew Hopkinson, Assoc. Prof., University of Nottingham, United Kingdom;
“New age-dependent aniridia-like mouse model”,
Karina Hadrian, PhD, University Hospital of Cologne, Germany;
“129S1/Svlmj Pax6 small-eye mice: A novel model for investigating innovative Aniridia Associated Keratopathy (AAK) therapies”,
Dina Javidjam, PhD candidate, Linköping university, Sweden

10.30 – 11.00

Panel discussion: Spinning up the wheel for new therapies, challenges and potentials
Moderators: James Lauderdale & Stefano Ferrari
Participants: Elizabeth M. Simpson, Andrés Vásquez Quintero, Andrew Hopkinson, Karina Hadrian & Dina Javidjam

11.00 – 11.30

Coffee break

11.30 – 12.00

Q & A session for patients and experts

12.00 – 12.15

Popular summary for patients and associations
Prof. Neil Lagali, Linköping university, Sweden

12.15 – 12.30

Closing ceremony
Scientific committee:
Branka Samolov, MD, PhD, S:t Erik eye hospital, Sweden;
Berit Byström, MD, Docent, Umeå university, Sweden;
Prof. Neil Lagali, Linköping university, Sweden;
Aniridia organizations:
Neven Milivojevic, Vice President of Aniridia Sweden;
Ivana Kildsgaard, President of Aniridia Sweden.
Barbara Poli, President of Aniridia Europe.

12.30

Farewell lunch at the hotel restaurant

14.00

End of the conference

If you have questions, please do not hesitate to contact us

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