UK to host virtual scientific meeting on rare genetic eye disease aniridia
A conference combining excellence in aniridia research and clinical practice plus patient engagement will be held in the online this summer broadcast from the UK.
By sharing the insights of those developing treatments and living with the complex visual impairment, the event’s goal is to upskill each other, prevent sight loss and deal with its other effects.
Professionals such as: ophthalmologists, researchers, vision scientists, and geneticists will be the primary delegates. People who have aniridia and their relatives are also encouraged to come. Tickets are now available at 2020.aniridiaconference.org.
Understanding aniridia is challenging, due to the scattered patient population (1 in 47,000), its highly variable impact and complications of linked conditions.
The biennial European Aniridia Conference (EAC) innovatively addresses this by bringing together different kinds of the world’s top experts. It’s the most productive path to developing new disease management and therapies. It accelerates the development of better treatments and hugely improves patient care.
The event will begin with clinics held by consultants at Moorfields Eye Hospital and UCL Institute of Ophthalmology. Then 2 days of presentations and networking to share knowledge on how aniridia affects the different parts of the body. Each section will be introduced by a person with aniridia giving details of their experiences.
Tony Moore will give an introductory talk on how understanding of aniridia and the PAX6 gene has evolved during his career. Dominique Bremond-Grignac (France) and Neil Lagali (Sweden) will talk about their recent work on the broad spectrum of aniridia phenotypes and disease complexity. Julie Daniels/Sajjad Ahmad wiil discuss stem cell therapy for corneal disease. Cheryl Gregory Evan from Canada will present her trial of mutation-dependent drug (ataluren) treatments.
Non-eye aspects of aniridia will be addressed too, since patients are known to have problems with weight control, diabetes and possibly neurological/brain-related deficits too. A representative of Professor Guy Rutter (Imperial College, London) and Professor David Price (Edinburgh) will speak about the role of the Pax6 gene in the pancreas and brain development respectively.
Eight early career scientists will deliver rapid fire presentations in a bid to win a £100 prize put up by Professor Veronica Van Heyningen CBE.
Five posters will also be presented by researchers from Russia and the UK.
A virtual networking room will be available alongside the presentations to enable delegates to discuss mutual interests and review the talks. Some conversations will be facilitated, others free flowing.
The last part of the conference will focus on adult patients and parents of children with aniridia. 2 adults with aniridia will describe their life with low vision. Aniridia Europe will discuss their future plans. Leaders of established national patient associations will advise those who aspire to build a group in their area.
Host and Funder
The conference is organised by Aniridia Network, the only UK charity dedicated to helping people affected by the disease. They have worked with umbrella body Aniridia Europe to host the EAC in the UK for the first time.
Funding for the event has generously come from the Network Support Scheme of the European Union’s Horizon 2020 research and innovation programme under the European Joint Programme Rare Diseases COFUND-EJP N° 825575.
The EJP RD grant seeks to increase collaboration of early career scientists and people in underrepresented countries and with stakeholders and research networks. These are generally small or in eastern European countries.
“I want to explore the practicalities of care for aniridia patients as part of the conference. It’s crucial to discuss science and translation into new therapies, but the routine diagnosis, treatment and monitoring of aniridia is not well understood by many in the eye care world. I hope we can disseminate more information and agree on consistent pathways.”Melanie Hingorani, Consultant Ophthalmologist at Moorfields Eye Hospital and Medical Advisor for Aniridia Network
The EAC is highly valued because it brings together fundamental scientific research and clinical practice, while at the same time providing opportunity for friendly and open engagement with patients.
The meeting will be a vibrant and informative event, especially as the critical mass of clinicians and scientists rising to meet the challenges of understanding the role of genetic mutation in aniridia all the way through to clinical trials of novel therapies is growing”Julie Daniels, Professor of Regenerative Medicine & Cellular Therapy at UCL Institute of Ophthalmology
Professor Veronica Van Heyningen CBE at UCL and Edinburgh led the original identification of the main aniridia gene Pax6. She is chairing the EAC Scientific Committee and is Patron of Aniridia Network. She explained
“We are trying not to make the programme too full as we know the aniridia community enjoys having discussion time with clinicians and scientists.”
Likewise, a researcher declared “What I like most about these events is sharing and talking with patients and families.”
At previous events patients enjoyed “learning new things and meeting amazing professionals and others in similar situations.”
Parents of children with aniridia valued “the chances to meet others, making connections and touching base with professionals interested in aniridia.”
The EAC was first held in Oslo in 2012 then Venice in 2014, Duisberg 2016 and Paris in 2018. It is the world’s only forum for scientific discussion of aniridia, outside the USA.
The subsequent EAC is expected to be held in Alicante, Spain in mid May 2022.
The organiser, Aniridia Network will also hold their 2021 annual general meeting during the weekend event. The charity aims to make people hopeful, confident, well-informed and supported about aniridia. It works with those who have the condition plus their families, doctors, educators and other support providers. Since 2001 the entirely volunteer run organisation has been improving knowledge about aniridia and reducing its debilitating effects.
Aniridia Network also started global Aniridia Day (21 June) and was a founding member of Aniridia Europe.
Aniridia Europe is a federation of national associations that strive to:
- spread details of aniridia and treatments,
- support research and development guidelines,
- create new aniridia associations.
- The EAC logo and photographs from previous European Aniridia Conferences are available for publishing
- Spokespeople are available for interview
- Aniridia Factsheet