Retina 2016 Public Engagement Day—Saturday, November 12

The Retina 2016 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 giving an overview of the agenda for the day. He encouraged people to engage with Fighting Blindness and add their voice to the work of the organisation.

The first session of the day was an interview with Paralympic sprinters Orla Comerford and Jason Smyth, facilitated by RTE Sport’s Darragh Maloney (pictured above). Darragh first asked Orla to talk about her connection to Fighting Blindness; Orla explained that when she was first diagnosed with Stargardt disease, her dad Ger became involved with fundraising for the organisation, even taking on the huge task of trekking Everest Base Camp, before joining the Board of Directors.

Jason spoke about the responsibility he feels as an experienced athlete to motivate and inspire younger athletes like Orla who are coming through, who will in turn do the same for athletes coming after them. He also spoke about the platform they have as Paralympic athletes to show people what can be achieved. It can be very easy when you are struggling with losing your vision to get caught up in what you can’t do but there are so many things that you can achieve despite that. Jason commented that he feels privileged to be in this position and have the opportunity to inspire people and raise awareness about vision loss.

Both Jason and Orla described their experiences of competing in the Paralympic Games in Rio last September and the fantastic atmosphere and buzz of performing in front of such big crowds. For Orla it was her Paralympic Games debut and she made the final in the T13 100m. For Jason it was his third Paralympic Games and his fifth gold medal, also in the T13 100m.

Both athletes spoke about the years of hard work that go into that 10 second race and how their vision affects the way they train. Jason showed his latest gold medal to the attendees, describing it, and how it sounds, for those who couldn’t see it.

Thank you to Jason and Orla for sharing their stories and to Darragh for chairing the panel.

Next up, Dr David Gamm, a clinician scientist from the University of Wisconsin gave an update on stem cells. He explained that the retina is like a specialised part of the brain and unfortunately the cells that populate the retina, like the brain and spinal cord, have no ability to regenerate themselves, you’re born with what you are going to have for life. Degeneration of these cells occurs in all people, but happens at a faster rate in some and can cause disease. He explained that he is driven by the people for whom there are currently no treatments available.

He cautioned that “The word stem cell is often thrown around very loosely, like it’s magic”, but that having this attitude can allow people to be taken advantage of, as the term stem cell is used to refer to lots of different types of cells. He stressed the need for people to educate themselves so that they can be informed consumers.

He explained that “Your body is made up of lots of different cells or building blocks. Most of them already know what they want to be in life. They are already middle aged and they have a job and that is the job they are going to have. But when you are younger you can learn new tricks and perhaps a cell can be commandeered to do different things. A stem cell is a cell that has at least one other thing that it can become. Pluripotent stem cells have the ability to become any cell in your body.” This allows researchers to start thinking about making “spare parts” for the tissues that don’t regenerate themselves such as the retina. “Induced pluripotent stem cells are cells that are already grown up and know what they want to do in life but have been reprogrammed back to a state where they can become other cells. So you are turning back the hands of time for those particular cells.” He further explained that the next challenge is how to get those cells to become what you want them to be, like a photoreceptor or a retinal pigment epithelial cell (RPE) and beyond this,  it’s one thing to have spare parts but yet another to put them together and get them to function. Current research is looking at how to ‘install’ what has been created in a dish into the retina.

Prof John Flannery from the University of California, Berkeley gave an overview of some of the promising vision research that is taking place around the world. He started by discussing progress in the field of gene therapy. Prof Flannery stated that people often ask him why scientists are looking at the conditions that are being investigated in clinical trials. He explained that the tools currently being used to deliver gene therapy are viruses. A virus only has a certain size capacity and so scientists are investigating the genes that are small enough to fit in the virus. They may not be the most common conditions but they are the conditions that scientists have the tools needed to try and deliver the repair for that disease to the retina.

He cautioned people about becoming disheartened if the read about trials where participants haven’t had any improvements in vision. Some trials, for example for Leber  congenital amaurosis (LCA) have shown gains in vision, while in some other trials the goal is to stop disease progression, not to improve vision. The results to date from a Stargardt gene therapy trial report that people aren’t getting any better but it seems to be slowing progression of the disease. The same is expected from a gene therapy trial in the US for Usher syndrome Type 1B. However in an on-going choroideremia trial there may be some expectations that the participants will gain vision. A clinical trial for x-linked retinoschisis is also on-going, there are no results as yet but no negative reports to date.

Prof Flannery also spoke about three groups that are currently working on an area called optogenetics. This is exciting for patients because it doesn’t require people to have a specific gene mutation. The aim is to add a light receptive function to cells in the retina that normally don’t respond to light. The premise is that a new gene is added to the neurons that normally convey the signal from photoreceptors to your brain, this new gene makes the neurons respond to light. For almost every retinal disease we know of people lose rod and cone photoreceptors and this causes loss of vision. However it seems that the neurons that convey the signal actually survive for many years after this, so the basic principle for optogenetics is to make these surviving cells light sensitive.

An optogenetics clinical trial will start in Paris in the coming year. There are some patients that have no rod photoreceptors but they have surviving macular and foveal cones that don’t function. The aim here is to do optogenetics on surviving central cones and to add light receptive function to the inner part of the cone photoreceptors. The expectation is that participants would have an increase in visual acuity straight away.

There are two trials in the planning stages for achromatopsia and blue cone monochromacy. These trials should start in the next year to two years with the expectation of increases in visual acuity also, because of promising results in primates.

For people who have a dominant disease Prof Flannery believes the most exciting research on the horizon is called CRISPR, a gene editing technique that sets about fixing the underlying defect within the gene rather than adding normal copies of a defective gene. adding normal copies of a defective gene. This is a very exciting technique and although it hasn’t been tested in humans, it has been shown to work in animals and scientists believe it will be very promising in the future.

Breakout Sessions

The condition specific breakout sessions were once again one of the most valuable parts of the day for many people. They provide a  unique opportunity to ask questions of the doctors and scientists present.

There were some excellent questions in the session that focussed on retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Usher syndrome and choroideremia, generating insightful discussions between experts and people affected. Questions predominately centred on genetics and the importance of understanding inheritance patterns. Attendees also heard about the many advances currently taking place in the ocular field including gene therapy, optogenetics, CRISPR technology, and stem cell therapy.

Discussions in the session for age-related macular degeneration, diabetes-related sight loss and related conditions focussed on treatments that are currently available for these conditions. 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.

There was a very interactive discussion is 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. Attendees at the session were told that Fighting Blindness is in the process of recruiting a genetic counsellor to deliver diagnoses back to participants in the project and that this process should accelerate in 2017. 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 wearing good sunglasses to protect eyes form the sun.

In the session dedicated to retinal detachment, foveoschisis, retinoblastoma, cataracts and glaucoma the audience heard about the advanced surgical techniques that are evolving and will ultimately lead to much better prospects. There was also a discussion around high myopia and the risk of developing eye conditions as a consequence.

The session focusing on Leber hereditary optic neuropathy (LHON) and euthyroid disease mainly discussed currently available therapies along with questions about those being developed and in clinical trials, such as gene therapy.

Thank you to all the doctors and scientists who participated in the breakout sessions.

The afternoon session began with Dr Sally Ann Lynch, Consultant Clinical Geneticist Temple Street Children’s Hospital. Sally Ann described what makes up the human genome, how our DNA works and the difference between something that is hereditary and something that is genetic.

The second talk of the afternoon came from psychotherapist Katrina Connolly who spoke about the importance of self-care. You can read about this presentation on page 16.

Caitríona Dunne, Communications and Advocacy Executive with Fighting Blindness spoke next and explained that advocacy simply means that we represent you our members and the issues that are important to you. However to do this effectively we need you to tell us what these issues are. Fighting Blindness will be introducing new projects in 2017 including a survey and focus groups and Caitriona encouraged everyone to get involved and provide information that will shape our advocacy strategy in the future.

Panel Discussion

Mr David Keegan, Mater Misericordiae University Hospital then chaired a panel discussion on the topic of “Patient and Public Involvement in Research and the Importance of Patient Reported Outcomes”. Joining him in the discussion were Emily Liu, Spark Therapeutics; Dr Paul Kenna, Royal Victoria Eye and Ear Hospital; Christina Fasser, President of Retina International; Ms Giuliana Silvestri, Belfast Health and Social Care Trust; Dr Avril Kennan, Head of Research and Advocacy, DEBRA Ireland.

David opened the panel by highlighting the importance of patient reported outcomes in discussions around research and development in retinal disease. He asked the room to consider what a good outcome or treatment for them would be, underlining the fact that this is a very personal thing and is different for everyone. For example, for one person, the ability to recognise a face might be of extreme importance but for another, not the main consideration.

Christina commented that we as patients are the end consumers and a treatment should serve each person individually. However, she acknowledged each person is at a very different point in the journey: some are at the beginning, while others are at the end, with little or no remaining sight. Therefore what is very helpful for one person, for example increased light perception, may be unsatisfactory or of no real benefit for another. Depending on age and stage of disease, we have different expectations. Some wish to restore has been lost, some wish to preserve what they have left. This is why we need partnership with scientists and clinicians, we need to be clear about what brings added value and is an improvement to our lives.

Avril Kennan stated that in a broad sense, research has always been in the hands of the people “in the white coats” but we are realising more and more that patients need to be included in the process which will ultimately be for them. For example, while there has been a long-term focus on an  ultimate cure, perhaps there are other aspects that would make a huge difference in a person’s life and should become a bigger focus. Avril spoke of her experience in DEBRA Ireland where, based on feedback from their members, they are now looking at a different area of research because that is what people have highlighted as immediate and valuable.

Giuliana spoke of her experience running clinics and involving patients in research and how on many occasions they have been surprised to find that what the doctors and scientists assumed would be important, turned out to be quite different from what patients themselves identified as important. She also spoke of how valuable it it is to receive patient feedback after clinics, because even though what is suggested might not be possible, it is useful information for the doctors and those directing clinical work.

Paul spoke of how grateful he was as a clinician for the initiative of Fighting Blindness many years ago in, as he described it, taking management of the research that was being done into their conditions. One very practical example he gave of patient input was around the regularity of electroretinogram (ERGs). People expressed that they weren’t keen on the procedure and so now Paul has decreased the frequency with which he performs them.

Emily Liu described drug development as a consumer business where a person trusts the expert to know how to do a job – comparing it for example to who we ask to cut our hair. However, she pointed out, we don’t expect them to cut it without any direction or influence on what our own desires are. Patient reported outcomes in this regard are crucial to bring that voice from the patients in order to give direction and guidance to how the drug development companies progress.

Christina closed the panel discussion by giving a report from a recent meeting that Retina International held with Foundation Fighting Blindness in the USA, the US Food and Drug Administration (FDA) and European Medicines Agency (EMA). The meeting focussed on patient reported outcomes and was a very positive beginning to building relationships in this area between scientists, doctors, patients and regulatory authorities.

Christina finished by talking about the difficulties of living with deteriorating vision or having a loved one who is blind or vision impaired. She highlighted the importance of having the support of family and friends and supporting each other.

Fighting Blindness Research Officer Laura Brady then closed the Retina 2016 Conference, thanking everyone who attended and supported the event over the three days. Laura gave a special thank you to all those who sponsored the conference, particularly Science Foundation Ireland and headline sponsors Novartis. She thanked all attendees for their input to the day and encouraged anyone who had follow up questions to contact the Fighting Blindness office on 01 6789 004 or A huge round of applause was given for the amazing volunteers without whom the Public Engagement Day simply wouldn’t be possible. Laura wished everyone a safe journey home before introducing the Visionaries Choir who closed the conference with a fantastic performance that received more than one standing