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.

July/August 2021

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

Alternatively, use the Networking room to discuss presentations and other topics.

10:45 Break

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

Alternatively, use the Networking room to discuss presentations and other topics.


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

Alternatively, use the Networking room to discuss presentations and other topics.

14:45 Break

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

Alternatively, use the Networking room to discuss presentations and other topics.

16:35 Break

Networking room to discuss presentations and other topics.

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

10:00 Break

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

Alternatively, use the Networking room to discuss presentations and other topics.

11:55 Lunch

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

13:15 Break

Aniridia Europe

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 involve people and create a community.
    Discussion afterwards in the Networking room.

14:30 Break

Afternoon 3: Building a supportive community

In the Networking room:

  • 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+
    Wind down