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An impressive line-up of speakers descended on Dublin on November 9 and 10 to present their findings at the Retina 2012 conference, including Professor Eberhart Zrenner from the University Of Tübingen pictured here with his Irish patient Saba. These world-class clinicians and scientists, who are working at the leading edge of scientific research, came from across Europe, the USA and Ireland to the meeting organised by Fighting Blindness that was held at Certus headquarters, St. Stephen’s Green, Dublin.
Jose Alain Sahel
Professor Jose-Alain Sahel of the Vision Institute, Paris, opened the conference with the first of the two keynote presentations of the day with an overview of some of the innovative therapies that his group are developing for inherited retinal disease. At the beginning of his presentation, Jose-Alain emphasised the importance of patient communication and involvement in the development of new therapies as being of the utmost priority. For example, he explained that there are two main types of photoreceptor cells involved in vision, rods and cones. Rods are more numerous and more sensitive than cones, and are useful for our dark adapted vision at night time. For patients however, it is the loss of cones that leads to central vision loss, and devastating complete blindness. The loss of cones is a late, secondary event which starts with the outer segments shortening and may occur many years after initial symptoms of RP.
During his presentation, Jose-Alain quoted Alan Wright of the Medical Research Council in the UK, “Preserving cones would prevent 1.5 million people worldwide from becoming blind, since in an age of artificial lighting, we function very well without rods.”
His group have demonstrated that administration by viral gene therapy of Rod-derived Cone Viability Factor (RdCVF), a potent anti-oxidant, to mouse models of RP led to an increase in cone survival and cone function being preserved. Also interestingly, this effect was seen irrespective of the causative mutation for RP.
This approach is useful for preserving existing cones, but what of patients where the cone cells have already degenerated? Research from Jose-Alain’s team and others in his institute has also shown that in RP, most cone cells are actually dormant, and not dead. His team have employed a technology known as optogenetics in order to re-sensitise these dormant cone cells to light. This again involves using viral gene therapy to deliver a bacterial gene known as halorhodopsin to the cells. They showed that this “biologic implant” can rewire the neural circuitry of the eye and they have identified certain patients that may benefit from this technology. In the future, this therapy may be combined with other therapeutic approaches that either corrects the defective gene that cause the retinal degeneration or with those that increase the survival of cone cells. He is confident that this therapy will be used not only in RP, but in other retinal degenerative diseases.
Finally, Professor Sahel once again emphasised the importance of placing the patient perspective at the heart of new developments. He explained some of the new approaches to document the outcomes of new and potential therapies. In Paris they have developed virtual simulators that reproduce daily life situations, (such as an apartment, street, shop and obstacles) in order to better assess the usefulness of these novel therapies in real life situations.
Our next presentation of the morning by Professor Frans Cremers was of current interest to all at Fighting Blindness. As we embark on our Target 3000 project, it was an honour to listen to Frans who has over 20 years’ experience identifying the mutated genes that are the molecular basis for retinal degenerations and are world authorities in this area. Recently, his group have utilised a technology known as Next-Generation Sequencing in order to identify both existing and new mutations associated with these conditions. This technology is the same that will be employed by the research team in Trinity College Dublin as part of the Target 3000 project.
Frans outlined the workflow for their gene sequencing project that is known as RP5000 in the Netherlands. This consists of obtaining informed consent from the individual to take their blood for gene sequencing, performing the next generation sequencing on the patient sample, and analysing the genes that are known to be involved in retinal diseases for mutations. Any information about an identified mutation is then relayed directly back to the patient. In the event where the gene mutation cannot be identified, a follow up by a research group analyses the entire sequence for other disease causing mutations. Frans also presented some of the difficult case studies outlining the methodology that was employed where his team have identified mutations in isolated forms of RP where there is no family history.
Professor Wolfgang Drexler from the Medical University in Vienna was next to take to the stage in order to speak about a fascinating medical imaging technique known as Optical Coherence Tomography (OCT). This technology has found a very successful application in ophthalmology by allowing the clinician to produce a highly detailed picture of the retina, which is essentially a non-invasive biopsy. OCT allows unprecedented visualisation of each individual cell in the retina, which aids the ophthalmologist not only in their diagnosis but also provides a crucial tool in ophthalmology clinical research. Wolfgang noted that not only does OCT offer a resolution of the retina that is 10 to 100 times better than ultrasound or MRI, it can be performed at a much higher speed which is preferable for the patient. Wolfgang ended his talk by bringing the conference attendees on a journey inside and through a blood vessel reconstructed in 3D by OCT, demonstrating the imaging power of this cutting-edge imaging technology.
The focus of Professor Nicolás Cuenca’s laboratory in the University of Alicante is on developing new therapeutic compounds that reduce the rate of retinal degeneration. During degeneration the retina responds to injury by remodelling, beginning with subtle changes in the neuronal structure and later by large scale reorganisation. One of the key stages during this process is the loss of photoreceptor cells by cell death. Nicolás presented a compelling story where he presented data about a compound known as TUDCA which is a potent antioxidant that is found in high quantities in the bile of black bears and has been synthetically available since 1954. Animals treated with TUDCA demonstrated lower numbers of photoreceptor cell death compared to controls. He also showed that TUDCA prevents the reorganisation of the retina seen in late stage of retinal injury and maintains the network of blood vessels of the retina in a mouse model of RP. Similarly, Nicolás presented data on another compound known as safranal, which is an extract from saffron, noted for its antioxidant properties. He noted that dietary supplementation with safranal slowed photoreceptor cell degeneration and this work suggests that safranal could be useful to retard retinal degeneration in patients with RP.
Professor Cuenca ended his presentation by speaking about his team’s research focusing on pro-insulin as a therapy for RP. As many of Fighting Blindness members are aware, RP is characterised by a variety of mutations in at least 35 different genes. The broad genetic nature of the disease has long frustrated scientists and clinicians in developing therapeutic strategies for this disease. This has led his team to explore mechanisms that focus on maintaining photoreceptor numbers rather than treating the individual gene mutations. His team were the first to demonstrate that gene therapy delivery of the human gene pro-insulin (which is a hormone precursor to insulin) could preserve photoreceptor cells, leading to treated subjects maintaining 49% more photoreceptors than non-treated controls.
Professor Jane Farrar of Trinity College Dublin was on hand to adeptly fly the flag for Irish ocular research with her presentation. She, along with Professor Pete Humphries and Dr. Paul Kenna of Trinity have spent many pioneering years identifying the genetic basis of retinal degenerations and are now in the process of progressing this research towards the development of gene based therapies for these disorders. As mentioned previously, RP poses a huge challenge for gene therapy, for example in rhodopsin-linked autosomal dominant RP alone there are over 150 individual mutations in the rhodopsin gene that can cause the disorder. Jane explained how they have circumvented this problem using a novel and clever method. They employ clinically safe and effective gene therapy vectors to deliver a molecule that “silences” both the faulty and normal gene copies of Rhodopsin. At the same time they deliver a copy of Rhodopsin that codes for the normal protein but is subtly altered so it does not become silenced itself. They term this approach suppression and replacement (S&R). Jane discussed the excellent preclinical data in animal models and the plan to progress towards human clinical trials in the very near future.
Jane also spoke about the development of gene therapy for the mitochondrial disorder Leber Hereditry Optic Neuropathy (LHON). The mitochondria are often referred to as the “powerhouses of the cell” because the mitochondria take in glucose and produce energy. In LHON, a mutation in the mitochondrial DNA leads to a loss of energy transfer to the optic nerve and a degeneration of the cells, resulting in loss of vision. In their work, Jane explained how they employ viral technology to deliver a gene that provides energy back to the eye cells, preventing those cells from dying and has demonstrated the effectiveness of this treatment in a mouse model of LHON. This study also delivers the gene by direct injection into the eye, which is a more clinically relevant method of delivery as the therapy is directly targeted to the retinal ganglion cells. This animal study is the first step forward in the preparation towards a future clinical trial.
Our next speaker of the day, Professor Robin Ali, is a regular visitor to Ireland in his role as Chief Scientific Advisor to Fighting Blindness. The primary focus of Robin’s team in University College London and Moorfields Eye Hospital is the development of novel treatments for retinal disease. Over the past fifteen years they have been at the forefront of investigating the basic aspects of gene transfer to the eye and have already developed gene therapy protocols in over a dozen different animal models of retinal degenerations. They are now transferring this extensive knowledge to human clinical trials.
In 2008, Robin and his collaborators were the first in the world to perform a gene therapy clinical trial for inherited blindness, involving the disorder Leber Congenital Amaurosis (LCA) with RPE65 mutations. LCA is an acute form of inherited blindness resulting in a severe loss of sight from birth onwards. This initial trial proved the safety of the experimental therapy, but also encouragingly led to a regaining of some sight in the treated adults. Robin explained how they have now extended this trial to treat patients from the ages of 5 years old, in order to deliver the therapy before the rapid loss of photoreceptor cells.
During his presentation, Robin outlined his research group’s strategy of beginning their initial studies in rare conditions such as LCA that are more amenable to therapy and moving towards developing treatments involving gene therapy for some of the more common, but also more complicated disorders. One such disorder is X-linked Retinitis Pigmentosa, which is known to be caused by mutations in three genes. Robin presented data regarding one of these genes, RPGR, and their efforts to work on a continuous pipeline of treatments. Robin noted that the main challenge is to increase the number of gene therapies in clinical trials and to optimise these therapies for the patient.
The expertise of the group of Professor John Flannery of the University of California, Berkely is directed towards refining viral gene therapy. John explained that although gene therapy has gone through a period of exciting advancement, especially with three landmark clinical trials for Leber’s Congenital Amaurosis (LCA), there are still a number of technical shortcomings that need to be overcome in order to deliver this form of treatment successfully to other retinal diseases. For example, highly efficient gene delivery to photoreceptors currently requires a subretinal injection (injection in the space under the retina) which is invasive for the patient and can induce retinal damage. The Flannery lab noted that müller cells are a cell type that spans the entire retina, however they are difficult cells to infect with current viral therapy. In order to engineer new viral therapies, John explained how his team harness the process that created viruses in the first place: evolution. They used this “directed evolution” method to create a pool of mutants and screened them for those that had the ability to only infect the müller cells. Using this targeted approach, they have successfully delivered by injection into the vitreous (the thick clear substance that fills the centre of the eye) a replacement copy of RS1 in animal models of X-linked retinoschisis. This codes for retinoschisin, mutations in which cause this rare dehabilitating retinal degeneration, characterised by splitting of the retina and loss of central vision.
Another strand of research that John’s team are interested in is restoring light responsiveness to a cell type known as retinal ganglion cells that may help individuals at end stage degeneration i.e. where there are no functioning photoreceptor cells. Although blindness occurs following loss of photoreceptor cells, much of the architecture of the retina actually remains intact, and retinal ganglion cells are the longest surviving cells in most hereditary retinal disorders. His team introduced a light channel by gene therapy to these cells in mice and recently in dogs and showed that it could restore several light responses of the visual system. While at early stage, this work may be of huge benefit to individuals where there are all the photoreceptor cells have degenerated fully.
Our keynote speaker of the afternoon, Professor Eberhart Zrenner from the University Of Tübingen, delivered a fascinating and engaging talk entitled “What blind Retinitis Pigmentosa patients can see when using the new subretinal wireless implant Alpha-IMS.” Eberhart is the co-ordinating director of an international team that are developing microchips to be surgically implanted beneath the transparent top membrane of the retina and into the macular region. This is the area of the eye where clear sharp central vision is formed. The heart of the retinal implant is approximately 3 x 3 mm2 large and consists of a silicon chip with 1,500 light sensitive elements. The chip senses light and transmits light signals back to the brain. The implant is controlled by a handheld, battery powered device which receives signals from a small device that is implanted under the skin behind the ear.
All components of the retinal chip must be biocompatible and demonstrate long term stability for many years. This is a huge technological challenge, which has led the team to explore the use of new materials and combinations. The components that are in contact with the surrounding tissue must be in a sealed protective layer to protect the device from the corrosive environment of the body. Eberhart explained that the retinal implants are well tolerated, and reassuringly remarked that although it is seven years since the first chips were implanted, they still look like new.
Eberhart then played some footage of one of the success stories of the retinal chip, a Finnish man named Miikka Terho, who was implanted with the retinal implant in 2010. Miika was able to distinguish between letters, a clock and amusingly his own name. When researchers placed letters reading MIKA in front of him, Miikka replied, “Do you think I’m a Formula 1 driver?”, as the research staff had confused the spelling of his name with fellow Finn, the race car driver Mika Hakkinen. Although the images generated by the retinal chip are in black and white and are not high resolution, most patients have trained their brain to interpret the images that they see. Eberhart then played more video clips showing how his patients are adapting; a woman points out her cutlery, her drink and her plate in a café; a young man can tell that his fiancé is smiling and laughing; a father plays with his young daughter and spots her bracelet which is reflective and easy to distinguish.
Professor Zrenner emphasised that although the development of retinal chip technology is still very much in its infancy, it has shown promising results. He expressed the certainty that the technology is already improving the mobility and quality of life of his patients. He concluded his presentation with a personal anecdote reminiscing about watching the first televised World Cup Final in 1954 where West Germany beat Hungary 3-2 in Switzerland. “Although it was black and white and the picture wasn’t very good…..it was still great!”
We in Fighting Blindness would like to thank all of our speakers and attendees who helped make Retina 2012 such a great success this year. The opportunity for interaction with the highest calibre scientists and clinicians involved in vision research will help to inspire our next generation of Irish researchers. We would also like to express thanks to all our members and supporters for their optimism and drive in helping Fighting Blindness ensure that these new developments will lead to patient-focused treatments in the fastest possible timeframe.
Retina 2014 was our biggest and most successful conference to date with three days of activity running from Thursday, November 6 to Saturday, November 8. The conference once again brought together our leading vision researchers and eye doctors from across Ireland, along with invited international speakers and guests. One of the highlights was our Saturday public engagement meeting, where our members had the opportunity to hear about advances in retina research direct from the individuals involved.
Pictured above L-R; Prof Brendan Buckley, Prof Donald Zack, Dr Maria Meehan, Prof Robert MacLaren, Avril Daly, Minister Leo Varadkar, Dr Giuliana Silvestri, Mr David Keegan, Dr Matthew Campbell, Dr Mark Pennesi, Prof Marius Ader, Prof Gustavo Aguirre, Mr Tim Jackson.
Thursday, November 6: Clinical Trials Meeting
Following a successful initial meeting last year, we once again held a small clinical trials meeting at ICON Clinical Research in Leopardstown, Dublin. The purpose of this workshop was to discuss some of the roadblocks that face the development of clinical trials and that will influence the ultimate success rate of these trials, with a focus on diseases of the retina. We were delighted to have a number of our Irish scientists and clinicians in attendance along with our international speakers. Representatives from the broader clinical trials environment also gave their input into the meeting including attendees from the Irish medicines regulator the HPRA and also from the government organisation Enterprise Ireland, who are responsible for developing innovation and investing in Irish enterprise. As a patient-led organisation, it was important to have the patient voice centrally involved in the discussion, and a number of patient representatives gave strong testimonies during the meeting regarding their personal, lived experiences with vision impairment and their expectations regarding efficacy of new therapies. We would like to sincerely thank Prof Brendan Buckley, Chief Medical Officer at ICON Plc and Fighting Blindness Medical and Scientific Advisory Board members for facilitating and supporting this meeting.
Friday, November 7: Scientific Programme
The Scientific Programme of Retina 2014 took place in Croke Park from 8am to 5pm and was very well attended with over 120 researchers, clinicians and students.
We began the day with a breakfast meeting entitled ‘Translating Basic Vision Research’. We were delighted to have Siobhan Gaynor, the Operations Manager at Genable Technologies Ltd and Dr Ruth McMahon, Commercialisation Specialist at Enterprise Ireland, speak in this session about the important steps that scientists involved in research need to be aware of early in their careers in order to translate their laboratory findings to a treatment application. This was a very informative session which generated a lot of discussion amongst the audience and really set the tone for the rest of the day.
Fighting Blindness CEO, Avril Daly and Consultant Ophthalmic Surgeon and Fighting Blindness Board Member Mr David Keegan then welcomed everyone to Retina 2014 before introducing Minister for Health, Mr Leo Varadkar, T.D. to officially open the conference. Speaking during his opening address, Minister Varadkar said, “This is an exciting time for the vision health community, especially patients and families who are affected by sight loss. The innovative and pioneering work presented today is incredibly important and gives hope to the 224,000 people affected by sight loss in Ireland, and to future generations affected by genetic eye disease. It’s really encouraging to hear about the huge progress being made in treating blindness, thanks to the dedication of those working in research and vision health, and the commitment of organisations like Fighting Blindness.”
Following the Minister’s address, some of the world’s leading vision researchers presented their work. An overview of each presentation is outlined below.
Prof Gustavo Aguirre
Professor of Medical Genetics and Ophthalmology, University of Pennsylvania School of Veterinary Medicine, USA
Prof Aguirre is an esteemed veterinarian researcher whose seminal work in identifying, then treating dogs with a form of Leber congenital amaurosis was a critical step in moving gene-based treatments into human clinical trials for retinal disease. Gus updated the conference on his latest research where his lab has identified a number of other retinal diseases in dogs, which act as a model for learning more about the human equivalent conditions. These include dog models of Best disease, achromatopsia, and a form of X-linkedretinitis pigmentosa caused by mutations in the RPGR gene. Proving the efficacy of gene based treatments in dogs provides a key pathway for translation of this work towards therapy development in humans.
Prof Robert MacLaren
Professor of Ophthalmology at the University of Oxford, Consultant Ophthalmologist at Oxford Eye Hospital, UK
Prof MacLaren gave an update on the impressive initial results from his phase 1 clinical trial for choroideremia. In this trial, published earlier this year, six men with the condition were injected with a viral construct containing the REP1 gene. Robert explained the surgery involved in this technique. Firstly, a controlled surgical retinal detachment is preformed involving the creation of a “bleb” and the gene therapy is then delivered to make direct contact with the photoreceptor cells of the retina. Two patients in this trial had quite advanced choroideremia and thinning of their retinas. Detachment of the retina normally leads to reduced vision; however these patients both had significant gains in vision. The team suggests that this justifies the use of this approach and lends support for further assessment of gene therapy for choroideremia.
Dr Giuliana Silvestri
Consultant Ophthalmic Surgeon and Reader, Royal Victoria Hospital and Queen’s University Belfast
Dr Silvestri has been a longstanding leader and champion of research into conditions affecting the retina over the past number of years in Northern Ireland. In her presentation Julie outlined the history of work in Northern Ireland where the early need was recognised for a comprehensive database for retinitis pigmentosa, by Mr Brian Page in 1988. This work was subsequently expanded by Julie’s own team in order to provide clinical diagnoses and access to genetic counselling services. Julie gave a number of examples where the knowledge provided by molecular diagnosis has impacted directly on patient management, showing the power of such an approach. We are delighted that Julie will continue to input her expertise and experience by the recent integration of her work within the all-Ireland project known as Target 5000, which is spearheaded by Fighting Blindness.
Dr Matthew Campbell
Research Assistant Professor in Genetics, Department of Genetics, Trinity College, Dublin
Dr Campbell kindly acknowledged the PhD research scholarship he received from Fighting Blindness back in 2002 which lay the foundation for the many accolades he has received on his way to establishing his own research programme last year. The subject of Matthew’s presentation was that of the inflammasome. He introduced these protein complexes that are often referred to as the ‘defence guardians’ of the body. Matthew and his team have researched the complex manner in which the inflammasome can regulate progression from the dry form to the wet, more advanced form of age-related macular degeneration (wet AMD). His team have discovered that one particular inflammasome, known as NLRP3, can regulate the production of a molecule known as IL-18, which when administered to mice has been shown to work more effectively, in combination with current treatment injections, at stopping the development of the wet form of this prevalent condition. His team have teamed up with a large pharmaceutical company to work on proving intravritreal (injection into the eye) safety of this compound before progression to a future human clinical trial.
Prof Marius Ader
Cell Replacement in the Mammalian Retina Research Group Leader (CRTD), Dresden, Germany
Prof Ader was delighted to speak in Dublin, where he had spent a number of happy years as a postdoctoral research fellow in Prof Jane Farrar’s laboratory in Trinity College, Dublin, before his return to Germany in 2007. Many promising gene therapies focus on maintaining visual function; however there are currently no established therapies available to replace visual function once it is lost. Marius’s research concentrates on cell replacement strategies to replace the critical photoreceptor cells in mouse models of retinal degeneration. Unlike other studies in this area, his team focus on transplantation of the cone photoreceptor cells that function in daylight conditions, unlike the rod cells which we mostly rely on for our evening and night vision. Marius explained that advances in the field have overcome previous concerns over the generation of sufficient numbers of transplantable cells, and the focus has shifted towards increasing the amount of transplanted cells that become functionally integrated into the degenerated retina. Promising results from these studies provide the first proof-of-concept for the feasibility for the restoration of daylight vision after transplantation in the mammalian retina.
Mr Tim Jackson
Consultant Ophthalmic Surgeon, King’s College Hospital and Senior Clinical Lecturer, King’s College London, UK
Mr Jackson’s presentation focused on his surgical and scientific experience in the area of bionic vision, also known as artificial vision. Tim gave an overview of the main approaches in this field, which vary in where the chip is placed in the retina; some are placed under the macula (sub-retinal) and some are placed on it (epi-retinal). He also explained that this placement affects external prosthesis – the epi-retinal devices require external glasses, in contrast to the sub-retinal which does not. Tim acknowledged that huge advances in this field have been made and will continue apace, however the vision regained at the moment is quite rudimentary, and functions primarily as an aid to mobility rather than a replacement of vision. Tim finished his presentation by thanking the many patients who, after being informed about the lengthy and invasive surgery for the sub-retinal device, took part in his clinical trial site; further increasing the scientific and clinical knowledge in the area of artificial vision.
Dr Mark Pennesi
Assistant Professor in Genetics, Casey Eye Institute, Oregon Health and Science University, USA
As someone who has a clear understanding of both the clinical and scientific aspects of retina research, Dr Pennesi gave an inspiring presentation detailing some of the many gene therapy clinical trials that he is working on for inherited retinal conditions, under the direction of Dr Richard Weleber in the Casey Eye Institute in Oregon. Gene therapy for a form of Leber congenital amaurosis, LCA2, recruited children as young as six years old in a recently-closed clinical trial, pointing to the safety of the approach in this group. His team are currently involved in a Stargardt disease and an Usher syndrome Type 1B gene therapy clinical trial where ABCR and MYO7A genes respectively are delivered via lentiviral constructs. Twenty patients have now been treated between these two trials and no adverse consequences have yet been reported, with results to follow. Expansion is to follow with clinical trials for conditions such as X-linked retinoschisis and achromatopsia currently being planned. Mark however, cautioned enthusiasm by emphasising the urgent need for investment in natural history studies of conditions affecting the retina. These natural history studies provide information on the natural course of a disease allowing researchers to design ‘smarter’ clinical trials and aid in the approval of new therapies.
Prof Donald Zack
Professor of Genetic Engineering and Molecular Ophthalmology at the Wilmer Eye Institute, Johns Hopkins University, USA
Prof Zack opened his presentation by acknowledging the huge strides that have been made in identifying the more than 200 genes that, when mutated, can cause retinal degeneration, leading to the exciting advances in gene therapy that had been described earlier in the day. However, the limits to this approach are clear as not every gene mutation will be amenable to gene therapy and such therapies may not be viable as they may only be appropriate for a small fraction of patients. Don and his team take a different approach, they are interested in developing neuroprotective therapies that are suitable for many different genetic subtypes of the one condition, for example subtypes of retinitis pigmentosa. In his presentation, he described a technology known as high-content screening in order to discern between thousands of drug compounds for their role in promoting the survival of photoreceptor cells, with the hope of identifying molecules that can be taken to the next step as leads for clinical drug development. Don also outlined new advances in modelling retinal diseases using induced pluripotent stem (iPS) cells. This relatively new and promising approach involves generating retinal cells from people affected by retinal conditions and can lead to greater understanding by studying retinal degeneration mechanisms. This system could offer a reliable and more-high throughput model for the further testing of promising drug candidates for their effectiveness at slowing down retinal degenerations.
The scientific programme of Retina 2014 was closed by Ms Christina Fasser, President of Retina International. Christina has been a leading voice in the effort to focus attention on the need for scientific research to find a cure or treatment for retinal blindness for over 25 years. She spoke about the importance of patients’ involvement in driving and leading clinical research and advocating for access to therapies when they become available.
Saturday, November 8: Public Engagement Day
Over 200 people attended the Public Engagement Day of Retina 2014 in Croke Park. This was the biggest turnout yet for the annual event and we were delighted to welcome back our long-time members and supporters as well as meet so many patients and families who are new to the organisation.
This was the fourth successive year of the Public Engagement Day, which gives people the opportunity to meet scientists and doctors and hear about new developments, details of clinical trials, discuss topical issues relating to services and healthcare, as well as meeting other patients living with similar conditions.
Fighting Blindness CEO, Avril Daly opened the day’s activities at 10:30am. Avril welcomed everyone to the event and introduced the Fighting Blindness staff who each gave a brief description of their role in the organisation.
Prof Gustavo Aguirre from the University of Pennsylvania in the USA then gave a fascinating overview of the history of gene therapy with his talk ‘The Story of Gene Therapy – Where Are We Now?’
An expert panel discussion about our Target 5000 research project was chaired by Fighting Blindness Research Manager Dr Maria Meehan. The panel included Dr Paul Kenna, Royal Victoria Eye and Ear Hospital, Dublin, Mr David Keegan, Mater Hospital, Dublin, Miss Giuliana Silvestri, Royal Victoria Hospital, Belfast and Dr Matthew Carrigan, Trinity College, Dublin.
This covered the importance of genetic sequencing in terms of diagnostic accuracy and opportunities to participate in potential trials as they arise. It also dealt with the important relationships between patients, doctors and scientists, under the oversight of Fighting Blindness, to establish a patient registry. It was a chance for specific questions to be asked and answered especially in terms of timelines and future possibilities.
Paul and David updated the group on the progress that has happened since the last meeting and explained the different stages of the project. With the help of two Fighting Blindness supported clinicians, Dr Emma Duignan and Dr Tahira Saad, over 600 Irish people are now part of this growing project. Giuliana gave an overview of her continued efforts in Northern Ireland to characterise the population of NI and expressed her delight in teaming up with David and Paul on developing an all-Ireland register of inherited retinal disease. Matthew gave an overview of the huge technical challenges that he faces in managing the data generation that such a project produces, and the procedure through which candidate genes can be identified that may be causative for a condition. The discussion ended with a ‘call to action’ for anyone who has not yet signed up for Target 5000, but would like to get involved, to contact Fighting Blindness on 01 6789 004 email@example.com for more information.
We were pleased to host condition-specific breakout sessions in the following areas:
- age-related macular degeneration
- retinitis pigmentosa
- Usher syndrome
- other inherited conditions
In these groups an Irish doctor, an Irish scientist and some of our international experts answered very specific questions that people had about their own condition. There were some excellent questions in each session, generating important and insightful discussions between experts and patients.
National Vision Coalition
This year has seen some incredible strides being made at policy development and healthcare delivery levels as Fighting Blindness has been a driving force within the strong National Vision Coalition. We were pleased to have consultant ophthalmologist Mr David Keegan from the Mater Hospital to give specific updates on the progress of the coalition and future plans to ensure the implementation of a National Vision Strategy.
To have patient organisations and service users directly involved and leading this process is an enormously positive position in ensuring that patient needs and benefit are informing these high level decisions which will affect our members. A broad and energetic discussion around this topic at the conference has provided valuable feedback for the coalition to work with and we urge people to get in touch to discuss these aspects of advocacy with us and to get involved.
An incredibly potent time during the meeting centred around the encouraging, moving and deeply personal account that was shared by Fighting Blindness member Carol Brill. Carol bravely shared her own story of living with Usher syndrome, a condition which results in retinitis pigmentosa and associated hearing loss. Carol spoke about the challenges she has faced and overcome. Her empowered attitude to live every day as a gift was appreciated by every person attending and we are grateful to Carol for sharing so gracefully and eloquently.
The Retina 2014 Conference was officially closed Ms Christina Fasser, President of Retina International.
Thank you to all our speakers, guests and all those who contributed to Retina 2014. Please click here to download the full Retina 2014 Conference Programme. For further details about any of the above, please contact firstname.lastname@example.org or 01 6789 004.
Retina 2015 will take place in Croke Park, Dublin, on Friday, November 6 and Saturday, November 7 2015.
Robin Ali is Professor of Human Molecular Genetics at UCL Institute of Ophthalmology, London where he is also Head of Department of Genetics. He also holds faculty positions at UCL Institute of Child Health and the Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital.
The main focus of his research is the development of gene and cell therapy for the treatment of retinal disorders. Robin Ali and members of his team have received numerous prizes and awards for their work on developing new treatments for retinal degeneration including the Pfizer /ARVO Karl Camras Translational Award in 2010 and Alcon Research Institute Award in 2009. In 2007 he was elected to the UK Academy of Medical Sciences and in 2009 appointed Senior Investigator of The UK National Institute of Health Research.
He serves on the advisory boards of a number of funding bodies including the UK Medical Research Council (Neurosciences and Mental Health Board and the Translational Stem Cell Research Committee) as well as the advisory boards of pharmaceutical and biotech companies, including Alcon Pharmaceuticals and ReGenX.
He is also Associate Director of Research at Fighting Blindness. He obtained his BSc (1988) and PhD in Genetics (1993) at University College London, continued by postdoctoral training at the MRC National Institute for Medical Research and UCL Institute of Ophthalmology and established his laboratory at UCL Institute of Ophthalmology in 1999.