RETINA 2016: Best Educational Meeting of the Year
We are delighted to announce our recent win at the Irish Healthcare Awards. Recognising projects that make a positive contribution to the patient and clinical community, the Fighting Blindness Retina 2016 conference was awarded ‘Best Educational Meeting of the Year’. This is a fantastic achievement and great recognition for the organisation and its annual event. It acknowledges the tremendous dedication of the Fighting Blindness team over the years to ensure its continued growth and relevance. Now an internationally recognisable multi-dimensional meeting, the Retina conference serves to raise the profile of retinal research and promote a spirit of education, partnership and collaboration among scientists, clinicians, patients, industry, government and regulators. Huge thanks to all who contributed to the success of the Retina 2016 conference.
RETINA 2017: A meeting of minds on the past, present and future
Now in its 18th year, the Fighting Blindness Retina 2017 conference, a three-day international ophthalmology gathering, took place in Dublin from 12-14th October. More than 400 people, representing every stakeholder group, attended at least one element of Retina 2017.
Kicking off on World Sight Day, was an engaging and interactive roundtable meeting entitled “Access for patients in Ireland to the forefront of new treatments through clinical trials”. Chaired by Fighting Blindness’ Prof Brendan Buckley, a highly informative and explorative discussion was greatly enhanced by the presence of a wide range of knowledge and expertise in the room. Together representatives from patient organisations, regulators, industry, academia and the clinical community exchanged opinion on how best to develop research and provide easier access to therapies for Irish individuals with sight-limiting conditions. Topics explored included the current model for Health Technology Assessment (HTA) and the necessity to identify a means which clearly demonstrates the value of a therapeutic product for rare diseases. Continuing from this, the importance of patient reported outcomes and the need to capture the impact of disease was highlighted. The re-alignment of patient, clinician and researcher expectations was also discussed. It was agreed by all that the European Reference Networks (ERN-EYE) will play a significant and important role in addressing many of these topics discussed.
RETINA 2017: Scientific Programme Day
Friday’s scientific programme was another great mix of cutting edge research developments and sharing of personal journeys of sight loss. A host of leading international experts in vision research from countries across the globe including the US, Canada, UK, Switzerland, France, Italy, Ireland and the UK participated in a unique mix of medical, scientific and patient perspective presentations for the prevention and treatment of retinal degenerations. The programme concentrated both on expanding our basic understanding of vision and on describing practical translational research. Speakers presented updates in the areas of retinal gene therapy development, patient reported outcome measures, disease mechanisms, stem cell-based therapies, adaptive optics, robotic surgery, therapeutics and clinical applications.
One of the key attractions for attending delegates is the unique and ideal platform the conference provides to meet with budding professionals and ignite future collaborations. Fighting Blindness is committed to exposing and engaging the next generation of vision researchers and many networking and career enhancing opportunities were provided for early stage researchers and clinicians to interact with pioneering experts in the field of retinal research.
Recognised in memory of Fighting Blindness founding member, Geraldine Duggan, the ‘Young Investigators Award’ was presented to Kelly Mulfaul, a PhD researcher at Trinity College Dublin. Working under the supervision of Dr Mathew Campbell, she presented work where the group have used an oxidative model of retinal degeneration (mimicking conditions observed in AMD) to show the protective effect through the inhibition of a membrane protein that plays a role in the immune response. With such a focus on technical presentations, it is very easy for scientific meetings to become introspective and abstract.
Ms Avril Daly, CEO Retina International gave an overview of ERN-EYE, a European Reference
Network dedicated to Rare Eye Diseases. With a strong patient-centric approach, this virtual network links centres of expertise and professionals in different UK and European countries and facilitate the sharing of experience, medical research, teaching, training and resources. The ERN-EYE aims to create clear governance structures for care coordination and improve access to diagnosis and treatment.
In the days prior to the retina conference, the first ERN-EYE workshop took place at Mont Ste-Odile in France. Many of our retina speakers and guests had travelled directly from this to the Retina Conference. Ms Christina Fasser, President Retina International shared with the audience that the “Odile” workshop was very successful and allowed major advances in the network’s activities. Closing the conference, Prof Buckley concluded the meeting had highlighted some of the most exciting developments in treating sight loss. He spoke of the need to get on with things, and to “think better, think faster”, as progress is frustratingly slow for patients with sight loss.
As part of the scientific programme, two Fighting Blindness Ambassadors bravely spoke to the audience about their experiences of living with sight loss. Dr Sinead Kane, who earlier this year became the first vision-impaired athlete to complete the World Marathon Challenge — seven marathons on seven continents in seven days —spoke about not letting vision loss stop her achieving her athletic and academic goals, and creating her “own opportunities”. “You can’t choose how you are born but you can choose how you live your life. You can either choose to be disabled by your vision impairment or you can choose to go out and live some sort of a full life and challenge the status quo that ‘people with disabilities can’t do things’,”
Angela Ginnell, who has been diagnosed with Stargardts disease eloquently shared her story and encouraged the audience to continue with their research studies as ‘what might be the tiniest change in cells can have the hugest impact on your life’
RETINA 2017: Public Engagement Day
Fighting Blindness is committed to providing opportunities to support and to empower and this year the Public Engagement Day set out to combine outreach in education, advocacy and support. The Retina 2017 Public Engagement Day was our biggest yet, with over 300 people in attendance.
Fighting Blindness CEO Kevin Whelan opened the event by welcoming attendees and encouraged all to engage with Fighting Blindness and add their voice to the work of the organisation.
The Public Engagement Day got off to a truly inspirational start with a spine-tingling piano recital from Orla O’Sullivan. Orla is to her knowledge, the only music teacher in the world to be diagnosed with both sight and hearing loss. She graciously gave attendees an insight into the life events which left her with limited sight and hearing. But with determination, belief and the right support network, Orla has demonstrated that a loss of sight should not pose a barrier to living a fulfilling and rewarding life.
While acknowledging that this can often be a dark and lonely place, she has overcome challenges to live a happy life with her partner and son. Undoubtedly like many others, she wishes she had perfect vision to greater experience the world around her. However, her imagination helps to fill the gaps and has proved to be an inspiration. Her support network has enabled her to realise her gift for music, which first started when her mother put her fingers on the piano keys as a baby. The vibrations of the piano were central to Orla accessing the world of music. That gift has truly flourished, giving her the confidence to fulfil her dreams. She understands the needs of people living with visual and hearing impairments and is working on a new system to enable them to learn music just like any other individual. Orla’s determination and musical talent will undoubtedly inspire many others to pursue their dreams.
“I have retinal degeneration, now what?”
Fighting Blindness recognises the importance of knowledge to individuals and their family members who seek a deeper understanding of sight loss conditions. As part of the Public Engagement Day
at Retina 2017, attendees were given the unique opportunity to learn from one of the world’s leading ophthalmologists and researchers, Dr Elise Héon, on inherited retinal degeneration (IRD). Speaking of the diagnosis and implications of IRDs, Dr Héon offered reassurance and expressed understanding of the plight of individuals living with an IRD, offering insights on diagnosis, management and potential treatments.
After receiving a warm welcome from attendees, Dr Héon outlined that we have made great progress in the clinical management and research of IRDs. Dr Héon stressed the importance of correctly diagnosing an IRD and how genetic testing must be partnered with clinical assessment in order to achieve this. As part of our Target 5000 project, we at Fighting Blindness are making great strides to ensure genetic testing is provided for all individuals living in Ireland with an IRD.
She encouraged individuals living with IRDs to adopt a pro-active approach to their condition, advising regular follow-up visits to assess any eye changes over time. She outlined how critical this would be to examining the effectiveness of any potential intervention they might receive. With this in mind, Dr Héon outlined how these conditions are now regarded as “Actionable Diseases”, meaning that action can now be taken to make a difference. This revolutionary concept for IRDs is a marked transformation from a previous era she acknowledged, where no interventions were thought to be available.
“Inherited retinal diseases are actionable diseases… and now they are coming to the forefront. There are many different treatments and the world ophthalmic community is coming together to develop better standards and processes to ensure that every patient is assessed in the same way.”
Dr Elise Héon, Hospital for Sick Children, Toronto, Canada
An update from the Target 5000 team
Of great and personal interest to many of the attendees on the Public Engagement Day is Target 5000. Now in its fifth year, Kevin Whelan, CEO of Fighting Blindness acknowledged that initially a research initiative, Target 5000 has evolved into a much larger, multi-discipline programme delivering a vital clinical service. Dr Laura Brady, Fighting Blindness Research Manager provided an update on the many successes under each of the four goals of Target 5000. In addressing frustrations around the pace of change and communication of the process, she identified the obstacles which have impacted its steady and timely progression and the steps being taken to overcome these.
In total, close to 1500 participants affected by a variety of inherited retinal degenerations have been recruited and samples collected for genotyping.
For approximately 65% of participants, a research grade genetic diagnosis has been established. For the remaining 23-35% of which a genetic cause has not been identified, various strategies to address this cohort are being undertaken.
Dr Brady shared with the audience that Fighting Blindness has committed funding to a joint research collaboration between Trinity College Dublin and Radboud University, Nijmegen, The Netherlands. Together the research teams will combine their complimentary skills and expertise to identify and functionally validate the genetic defects in cases which a likely causative mutation has not been identified.
A key priority for Fighting Blindness and the Target 5000 team is the delivery of important clinical and genetic information back to individuals. To achieve this, a series of steps were required and an infrastructure set in place. Firstly, it was necessary that positive research grade results from Trinity College Dublin be clinically validated. At the time, there were no facilities in Ireland that could assist with providing this service. This challenge is currently being met using a third-party service provider, a certified laboratory for genetic testing in Manchester.
Secondly, the interpretation and delivery of a genetic diagnosis to an individual requires time with a clinical geneticist and genetic counsellor. Given the significant patient population for IRDs in Ireland, this need cannot be met by the current clinical genetics services in the State. Fighting Blindness committed last year to the funding of a Genetic Counsellor for a period of two years. The appointment of an ophthalmology specific genetic counsellor would play a vital role in accelerating this process and result in the provision of a better service for patients. However, ensuring the optimal and appropriate clinical governance model for this position has been a slow and complex process for the Target 5000 team. Kevin Whelan, CEO of Fighting Blindness reaffirmed their commitment to ensure this critical resource is in place as soon as possible.
“Target 5000 is one of the most exciting, collaborative all-Ireland projects running in ophthalmology,”
Mr David Keegan, Mater Misericordiae University Hospital Dublin
Retina International RED Alert genetic testing toolkit
Earlier this year, Retina International launched the RED Alert genetic testing toolkit (http://www.retina-international.org/toolkit-redalert). RED stands for Rare Eye Diseases. CEO Avril Daly spoke to delegates about how this new toolkit endeavours to inform people globally about genetic testing and answers some of the most frequently asked questions about the service.
Following on from the lively discussion from Dr Elise Héon, Kevin Whelan and Dr Laura Brady earlier in the day, Avril also emphasised the critical importance of genetic testing for people living with sight loss conditions. Avril acknowledged the tangible improvements which have been made in research to date, noting the recent progress made in gene therapy for inherited retinal diseases (IRDs). She described how a coordinated effort between clinical staff, researchers and people living with sight loss will ensure that this degree of progress continues into the future. Reaffirming the position from Dr Héon’s talk that IRDs are “Actionable Diseases”, she outlined that they are only actionable if people know what condition they have. From this, they can make more informed choices and obtain a clearer perspective of their condition, including their prognosis. She described how genetic testing is a fundamental component of diagnosis and how the Target 5000 project serves to deliver this vital service for people in Ireland.
Fighting Blindness fully understands the importance of genetic testing and we are committed to ensuring people in Ireland living with IRDs have access to this service. For further information please e-mail firstname.lastname@example.org or call: 01 6789004.
Fighting Blindness Call for Action
Taking all the above into consideration and alongside the huge advances being made in developing new gene therapies for patients with inherited retinal disease, we are now approaching a stage where recognition by the government is needed to invest in formal clinical structures. This will enable IRD patients to avail of the clinical and molecular genetic expertise which currently exists and to deliver the therapeutic options which will be available to patients in the future.
During the conference, Fighting Blindness urged the Government to prioritise the funding of clinical genetic services, including clinical consultant geneticists and genetic counsellors, for the estimated 5,000 people with inherited retinal conditions in Ireland. The call came against a backdrop of Ireland having among the lowest numbers of genetic staff per 100,000 population in Europe. As a result, current waiting lists for clinical genetic services in Ireland stretch up to 18 months and longer.
Devices and Technology
Fighting Blindness recognises the importance of ensuring that people living with sight loss are aware of the supports available to help them in their daily lives. Just as advances are being made in clinical and scientific research, the technology which assists people in completing everyday tasks continues to improve. The pace with which advances are being made paves the way for a very exciting and even more accessible future. At the Public Engagement Day, Mr Cearbhall O’Meadhra and Ms Mary Lavelle spoke about the Exchange Club, a discussion group which provides the opportunity for people to learn about assistive technologies and devices.
From the discussion, the audience were reminded that a person’s quality of life is an essential aspect of life which should not be forgotten whilst waiting for a treatment to come along. Huge advances in technology have translated in significant improvements for the quality of life of people. Mary and Cearbhall outlined how the Exchange Club provides a means of sharing advice and support on new technologies. All are invited to attend these discussions, which take place in the Fighting Blindness office on Mondays from 11am to 1pm and in Cork on Saturdays in the library.
Cearbhall explained how these clubs bring together people with different interests and varying levels of expertise, with experience of many different devices including iPhones, laptops and screen readers. He also mentioned that people can dial into an exchange club from the comfort of their home, if there were issues in being able to attend such meetings.
The discussion explained how the Exchange Club allows for people to explore new apps or devices which can make life easier, provide more independence and enable people to enjoy tasks which sight loss may have once restricted, like reading for example. This discussion garnered many questions from the audience, which is a testimony to the importance of the club in sharing insights and advice on technologies which can improve the quality of people’s lives immediately.
“Exchanging information is the best way to learn” Cearbhall O’Meara, Technology Exchange Club
Condition-specific breakout sessions The condition specific breakout sessions were once again one of the most valuable parts of the day for many people.
Fighting Blindness understands how the Public Engagement Day provides a unique and unrivalled opportunity to facilitate discussions between leading ophthalmologists, clinicians and members of the public outside of the normal constraints of a clinic appointment.
There were some excellent questions in the session that focused on retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Usher syndrome and choroideremia, generating important and insightful discussions between experts and people affected. Questions centred predominately on genetics, genetic testing and the importance of understanding inheritance patterns. The panellists devoted significant time in explaining the complexities and time consuming process around genetic testing and interpretation of genetic data. They cautioned that a genetic diagnosis does not always provide all the answers and should be interpreted alongside clinical assessment and natural history.
From this, the importance of natural history studies was emphasised and attendees were encouraged to attend follow up visits as part of Target 5000. Attendees also heard about the many advances currently taking place in the ocular field including gene therapy, neuroprotective drugs, optogenetics, CRISPR technology and stem cell therapy. Some discussion took place around participation in clinical trials and attendees were advised that they need to know clinical trials are not treatments, they are a continuation of research studies to test a treatment to first see if it is safe and then effective.
Discussions in the session for age-related macular degeneration (AMD), diabetes-related sight loss and macular edema focused on treatments that are currently available for these conditions and the role of genetics in AMD. People asked questions about other potential treatments that are being researched, including stem cell therapies. There was also some discussion about secondary devices that can help people’s vision, including magnifiers and surgical devices. The importance of having a record of your eye health was emphasised with recommended check-up every one to two years. Attendees were encouraged to take control of their environmental factors, eat healthy with lots of greens, daily exercise and if you smoke, stop immediately.
There was a very interactive discussion in the session dedicated to Stargardt disease, cone-rod
dystrophy and achromatopsia. There were questions about inheritance patterns in these conditions and particular interest in progress of the Target 5000 project which many people are involved in.
People who have Stargardt disease were also counselled about the dangers of consuming excessive amounts of vitamin A and advised never to take any vitamin supplement that contains vitamin A. All attendees were informed about the importance of wearing good sunglasses to protect eyes form the sun.
A session dedicated to retinal detachment, retinal injury and other conditions allowed people the opportunity to ask an experienced clinician very specific questions about their own conditions. The audience heard about the advanced surgical techniques that are evolving and will ultimately lead to much better prospects.
Prof Jane Farrar and Dr Paul Kenna gave a detailed introduction to mitochondrial dynamics and mechanisms during the session focusing on Leber hereditary optic neuropathy (LHON) and mitochondrial disease. This was followed by discussion on currently available therapies along with questions about those being developed and in clinical trials, such as gene therapy.
We recognise the importance of knowledge and awareness of each sight loss condition and this is something we endeavour to promote as we look towards 2018.
Closing the conference, the audience were treated with a wonderful performance by the Visionaries Choir with renditions of the Beatles ‘When I’m 64’ and ‘Imagine’ and the more recent Ed Sheerans ‘Thinking out Loud’.
Thank you to all the Retina 2017 speakers, panellists, sponsors, delegates, volunteers and everyone who supported the event. Thank you to our wonderful Fighting Blindness ambassadors and media spokespeople who helped us promote the Retina 2017 Conference in November and raise much-needed awareness of the work of Fighting Blindness, and sight loss in Ireland.
A full report of this discussion will be made available in the coming months.
“It has been a great and informative experience that will benefit me in my future. Thank you for making this all possible for the people of Ireland.” Attendee at the Retina Public Engagement Day.