The conference took place online. Watch the recordings.
As well as the main sessions there was a Networking Room on Zoom to discuss subjects arising or facilitated conversation on a topic.
Saturday 31 July
Morning 1: The Eye
- 09:00 Introduction: Veronica van Heyningen, UK
- 09:05 Welcome: Tony Moore, UK/USA
- 09.15 The Individual behind the iris: Experiences from a patient’s perspective – Keith Spink, UK
- 09:25 Management of cataract and artificial iris implants for aniridia – Stephen Tuft, UK
- 09:45 Nystagmus – Talk: Jay Self, Q&A: Helena. Lee, UK
- 10:05 Congenital Aniridia Genotype-phenotype correlations– Dominique. Bremond-Gignac, France
- 10:25 Lay summary / Questions and answers / Panel discussion
Chairs: Melanie Hingorani & Helena Lee.
Panel: Speakers + Mariya Moosajee, Saj Ahmad
- Meet the Session 1 speakers in the Networking room
- Main room videos:
- Moorfields Eye Hospital and Institute of Ophthalmology research laboratories tour video
- Living with Aniridia – Gleb (recording from past Aniridia Network conference)
Morning 2: Outside the Eye
- 11:05 My experience of melatonin and sleep – Beth Dawes, UK
- 11:15 Sleep disorders and aniridia – Russell Foster
- 11:40 Role of the lncRNA PAX6-AS1 in pancreatic islet function – Talk: Livia Lopez-Noriega, Q&A: Guy Rutter, UK
- 11:55 Plasma Metabolome Signature of Aniridia patients with PAX6 haploinsufficiency (Rapid fire)- Mariya Moosajee, UK
- 12:10 Results from the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management – Kelly Trout, USA
- 12:25 Lay summary / Questions and answers / Panel discussion
Chairs: Veronica van Heyningen, Tony Moore
Panel: Speakers + Jim Lauderdale, Ngozi Oluonye
- 12:45 Meet the Session 2 speakers in the Networking room
- 13:00 Meet the Poster authors in the Networking room
- Main room: Growing In Confidence – Glen Turner (recording from past Aniridia Network conference)
Afternoon 1: In the Cell
- 13:15 Importance of taking part in and supporting research – Simon. Butler, UK
- 13:25 Induced pluripotent stem cells – a new model system for aniridia research – Dulce Cunha, UK
- 13:45 Pax6 in brain development – David Price, UK
- 14:05 Modeling of Aniridia-associated keratopathy and identification of novel drugs for potential treatment (Rapid fire)- Daniel Aberdam, France
- 14:15 Lay summary / Panel discussion / Questions and answers
Chair: Mariya Moosajee, Dominique Bremond-Gignac
Panel: Speakers + Veronica van Heyningen, Julie Daniels
- Meet the Session 3 speakers in the Networking room
- Main room videos:
- Starting University – Harry Westwood (recording from past Aniridia Network conference)
- Life with aniridia – Calnan (11) & Mathew Sorenson
Afternoon 2: Future Therapies
- 14:55 Ataluren STAR trial patient retrospective – Calnan Sorenson
- 15:05 Therapeutic approaches targeting anterior chamber defects in the Pax6Sey/+ model of aniridia – Cheryl Gregory-Evans, Canada
- 15:25 The cornea in aniridia: what have we learned from studies across Europe – Neil Lagali, Sweden
- 15:45 Drug repurposing for enhancing PAX6 expression in aniridia (Rapid fire) – Ali Djalilian, USA
- 15:55 Future perspectives on limbal stem cells – Julie Daniels, UK
- 16:15 Lay summary / Panel discussion / Questions and answers
Chair: Saj Ahmad, Neil Lagali
Panel: Speakers + Martin Collinson, Mariya Moosajee
Afternoon 3: Working together
- 16:45 Working together
Roundtable with members of Aniridia NET and European Reference Network EYE.
Current active projects and how to be involved.
Chairs: Mariya Moosajee, Veronica van Heyningen
Panel: Neil Lagali, Dominique Bremond-Gignac, Cheryl Gregory-Evans, Julie Daniels, Christina Grupcheva, Daniel Aberdam, Saj Ahmad
- Up to 17:30: Close
Sunday 1 August
Morning 1 Early Career Scientists
- 09:00 Early Career Scientists rapid fire presentations
A variety of 4 minute talks on subjects by new researchers from around the world.
£100 prize for the one judged the best, funded and awarded by Veronica.van Heyningen
Judges: Tony Moore and Julie Daniels
Hosts: Nikki Hall and Dulce Cunha
- Functional analysis of PAX6 non-coding nucleotide variants revealed a new molecular mechanism of congenital aniridia pathogenesis – Alexandra Filatova, Russia
- Molecular disruption of PAX6 regulatory pathways in early optic vesicles associated with aniridia and microphthalmia– Philippa Harding, UK
- Retinal structure and genotype in congenital aniridia – Hilde R. Pedersen, Norway
- Longitudinal genotype-phenotype analysis of 86 aniridia patients with molecularly confirmed PAX6 mutations – Vivienne Kit, UK
- Functional characterization of non-canonical splice variants in aniridia by minigenes and ex-vivo approaches – Alejandra Tamayo, Spain
- Aniridia associated keratopathy: A retrospective analysis – Vishal Vohra, UK
- The spectrum of PAX6 gene mutations and genotype-phenotype correlation: single Lithuanian center experience – Jovita Urbaite, Lithuania
- Or 09:00 Young Aniridics gathering in the Networking room
Pupil Passports – Lyn Buller (recording from past Aniridia Network conference)
Morning 2: Different perspectives
- 10:15 Prize announcement for Early Career Scientists Rapid fire presentations, Veronica.van Heyningen
Follow and Q&A up with Early Career Scientists in Networking Room afterwards
- 10:20 Ocular surface in aniridia – visual, perceptual and cosmetic discomfort- hopes and perspectives – Christina Grupcheva, Bulgaria
- 10:40 Looking at aniridia 3 ways: perspective of a doctor, scientist and relative – Nikki Hall, UK
- 10:55 Is it me or is it my nystagmus? – Sue Rickkets, UK
Q&A in Networking Room
- 11:25 Impact of diagnoses of congenital anirida and WAGR syndrome on the psychological state of patients and parents and their families – Galina Genning, Russia
Q&A in Networking Room
- 11:45 Gene.Vision website & chatbot – Alex Yeong, UK
- Networking room: Psychological impacts of aniridia discussion and then Gene.Vision discussion
- Main room: Living With Aniridia – Fern Lulham (recording from past Aniridia Network conference)
Afternoon 1: Aniridics Together
- 12:30 In the Networking room:
- Life with aniridia– Georgina Clements, UK
- Annual General Meeting and Report, Aniridia Network
- Do you see what I see or do I see what you see?
What do you see anyway?
How Recreation and Leisure Pursuits have impacted my life living with aniridia– Rosalyn Fast, Canada
- Networking room to discuss presentations and other topics.
- This is Moorfields video
Afternoon 2: Aniridia Europe
- 13:30 Erasmus+ Project “Looking out for a school for all“
Details of a teacher’s guidance on inclusion of visually impaired children, and app for early years visual stimulation.
Barbara Poli, Corrado Teofili, Monica Puerto, Sølvi Jernsetervangen Ørstenvik, Jordi Rizo Albero & Adrian Monleon.
- 14:00 Aniridia Europe – a look into the future – Ognian Petkov
Who we are, what we have achieved, what we are planning.to involve people and create a community.
Discussion afterwards in the Networking room.
- Networking room to discuss presentations and other topics
- Main room videos:
- Moorfields Eye Hospital and Institute of Ophthalmology research labratories tour video
- Befriending – Lyn Buller (recording from past Aniridia Network conference)
Afternoon 3: Building a supportive community
- 14:45 Building a supportive community
How patient groups have and should go about strengthening relationships and distributing information.
Discussion for all, especially groups and representatives from under-represented countries,
With national association leaders including: James Buller, Rosa Sánchez de Vega, Barbara Poli. Europe, Galina Gening, Ivana Kildsgaard, Irma Byle.
- 15:45 Retrospective and ideas – James Buller
Collective review of EAC, Aniridia Day & Rare Disease Day and suggestions for 2022+