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

Prof. Neil Lagali, PhD, Linköping university, Sweden;
Berit Byström, MD PhD, University Hospital of Umeå, Sweden;
Branka Samolov, MD, PhD, S:t Erik eye hospital, Sweden;
Barbara Poli, President of Aniridia Europe;
Ivana Kildsgaard, President of Aniridia Sweden;
Sten Kjellström, MD, PhD, CEO, S:t Erik eye hospital, Sweden

13.30 – 14.00
Opening keynote lecture
“Dry eye disease – myths and facts”,
Prof. Tor Paaske Utheim, 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, PhD, 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”,
Prof. James Lauderdale, PhD, 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”,
Prof. Vito Romano, University of Brescia, Italy;
“Posterior segment anomalies in PAX6-related congenital aniridia”,
Prof. Dominique Bremond-Gignac, MD, PhD, FEBO, 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, PhD, S:t Erik eye hospital, Sweden;
“Lessons learned from a Swedish register study of aniridia”,
Berit Byström, MD, PhD, 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, 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, PhD, 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”,
Adj. Prof. Tanja Ilmarinen, PhD, 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, PhD, 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, University hospital Necker enfants malades, France;
“Syndromic aniridia and metabolomics”,
Prof. Mariya Moosajee, PhD, 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, Mary 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, PhD, 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, PhD, FEBO, University hospital Necker enfants malades, APHP, France;
“Cohort data from 319 subjects with congenital aniridia at the Schwiete Center”,
Prof. Nóra Szentmáry, PhD, 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, PhD, University of British Columbia, Canada;
“Dynamic and customized iris embedded inside a scleral lens for aniridia patients”,
Andrés Vásquez Quintero, PhD, Azalea Vision, Belgium;
“Innovations in sutureless transplantation of amniotic membrane for the outpatient management of ocular surface diseases”,
Ass. Prof. Andrew Hopkinson, PhD, University of Nottingham, United Kingdom;
“Updates on eyedrop therapy for mouse models of aniridia-associated keratopathy”,
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, Martin Collins, 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, PhD, Linköping university, Sweden

12.15 – 12.30

Closing ceremony
Branka Samolov, MD, PhD, S:t Erik eye hospital, Sweden;
Berit Byström, MD, PhD, Umeå university, Sweden;
Prof. Neil Lagali, PhD, Linköping university, Sweden;
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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