Report From Fighting Blindness Event at Irish Embassy, Washington D.C.

In June 2014 Fighting Blindness CEO, Avril Daly, and Head of Fundraising, Tony Ward, travelled to the United States to attend Visions 2014, the national conference of the Foundation Fighting Blindness. While in the US the Irish Embassy in Washington D.C. hosted a networking reception for Fighting Blindness. Cathy O’Connor, ICT and Communications Policy Counsellor with the Embassy of Ireland in the United States, wrote the following report about the event.

Last week I hosted a reception in the Embassy for Fighting Blindness in Ireland. It was well attended with representatives from academia, government, research, industry and Irish networks. The main purpose of the event was to provide a networking opportunity for Avril Daly and Tony Ward of Fighting Blindness during their visit to the US to attend the Visions 2014 conference in Denver, Colorado.

The first speaker of the evening was Tony Ward, who is one of 224,000 people in Ireland living with severe sight loss. Tony has been involved with the organisation since he was diagnosed with retinitis pigmentosa (RP), a rare genetic form of blindness, in 1994. Tony gave an overview of the work undertaken by Fighting Blindness since its inception in 1983. The ongoing work in basic research, funded by Fighting Blindness, has led to breakthroughs that have helped to bring about the era of human clinical trial development. He spoke about progress bringing new challenges and new approaches to research. One of these is the need to ensure patients are prepared for the advent of clinical trials and that they are equipped with the best information about their condition to enable access to appropriate trials when they become available. In the case of inherited retinal disease, where there is a genetic component, it is essential for patients to have not only a clinical diagnosis but also a genetic one. Fighting Blindness is funding a project to do just that. Target 3000 aims to identify the estimated 3,000 people in Ireland who have a rare retinal disease and provide next generation exome sequencing and a genetic diagnosis to everyone affected. This will give people the best possible information to make informed decisions about the management of their condition. This data will then be stored on the National Inherited Retinopathies Register. Fighting Blindness is working with Trinity College Dublin, the Royal Victoria Eye and Ear Hospital in Dublin, the Mater Hospital, Dublin and Queens University Belfast on an all-Ireland register. The key objectives of this project are not only empowering patients through knowledge, but enabling further exploration of genetic eye disease while placing Ireland in the best possible position to attract clinical trials which will further promote innovation.

Tony went on to give a poignant account of his own journey with sight loss. He told the audience that twenty years ago, on June 18, 1994, he was a 28 year old accountant visiting Giants Stadium with his friends to watch Ireland beat Italy 1-0 on that historic World Cup night. When he returned from the USA, he noted he could not fill in ledgers, which were then done manually, and made an appointment with an ophthalmologist who diagnosed him with RP.  Although a very rare condition, when Tony told a colleague of his diagnosis she put him in contact with a young man named John Delany who also had RP. John met Tony and encouraged him to attend the Fighting Blindness AGM that year. With trepidation Tony went along “I thought it would be chaotic”, he said “a room full of blind people – tea coffee chairs, this would not be good, but it was nothing like that. It was just a gathering of people of all ages and all stages of sight loss who were chatting about life like any other group, I never looked back.” At that time John Delany was retraining as a psychotherapist. Having gained considerable experience at the department of Psychiatry in St James’s Hospital Dublin, he has recently taken up a position as Senior Counselling Manager at the Insight Counselling Centre at Fighting Blindness. Tony and John are now colleagues.

Tony then introduced Anne Taylor from the National Federation for the Blind in the USA. Anne gave a wonderful presentation on the latest mobile communications technology supporting people with varying degrees of sight loss, and the benefits of super-fast broadband for people who are visually impaired. Not only are there voice recognition apps but ones for every magazine and newspaper you can think of, all easily accessed on her phone. She also uses an app where a dollar bill or any paper currency can be held against a phone screen to let you know its denomination. There is also an app to locate addresses and guide people accurately. It was fascinating to the audience and shows how, while we wait for treatments, technology is advancing to such a degree that it is changing the lives of people in the vision impaired community globally.

Next Tony introduced Dr Stephen Rose, Chief Scientific Officer at Foundation Fighting Blindness. Dr Rose gave an insightful and engaging overview of the research being undertaken by Foundation Fighting Blindness and the significant advancements in the areas of gene therapy, cell therapy, compound therapy and optogenetics, which have been funded since its formation in 1971 by patients affected by sight loss, just like Fighting Blindness in Ireland. He spoke of the joint projects undertaken over the years by the two groups. Foundation Fighting Blindness with Fighting Blindness have funded the genetics department in Trinity College Dublin, which discovered the first gene responsible for RP in 1989. This breakthrough resulted in the development of the spin out company Genable Technologies, which has long been supported by both charities. Genable is developing technology for patients with rhodopsin (RHO)-linked autosomal dominant retinitis pigmentosa (adRP), is now at pre-trial stage. Dr Rose acknowledged the many eminent Irish-American researchers who are leading the field of development of therapies for rare retinal disease and noted that Dr Michael Redmond, who discovered the gene responsible for a rare childhood form of RP, Leber congenital amourosis (LCA), was present at the event. In summing up, Dr Rose talked about the benefits of collaboration of the two organisations, representing the USA and Ireland, both north and south, as we enter this new and exciting phase of development, and he thanked Avril Daly and Tony Ward for the invitation to speak.

Following the event Avril Daly explained further the importance of the development of registers, particularly for conditions that are rare. She explained that without support for these we will not be in a position to attract human clinical trials for new and innovative potential treatments to Ireland. She pointed out that we have the clinical and scientific networks and we have the facilities, such as the Dublin Centre for Clinical Research. Charities are supporting the development of infrastructures but this is unsustainable without start support.

Avril emphasised that the collection, and appropriate registration and storage of genetic and other data, is vital in the development of good healthcare systems. She highlighted the imminent publication of the National Rare Disease Plan for Ireland by the Department of Health on July 3 and emphasised the changes this plan could make to the lives of patients, their carers and the medical profession as well as research and innovation, and stressed the need for implementation.

Avril noted that Fighting Blindness has established and facilitates an Ophthalmic Clinical Trials Network where world class researchers and clinicians from the island  of Ireland are working together to bring clinical trials for rare genetic eye disease to Ireland. The work of the National Coalition for Vision Health in Ireland, which Fighting Blindness co-chairs with NCBI, was also discussed. This multi-stakeholder group is made up of representatives from the Irish College of Ophthalmology (ICO), the Association of Optometrists in Ireland, the HSE, NCBI, Irish Guide Dogs, Child Vision and Fighting Blindness, with the objective of developing an integrated national vision strategy for delivery of better ophthalmic care in Ireland.

For more information about any of the above, please contact Avril Daly or Tony Ward at avril.daly@fightingblindness.ie or tony.ward@ fightingblindness.ie.

Cathy O’Connor, Counsellor, ICT, Energy and Science Policy Embassy of Ireland, Washington DC