UCL EyeTherapy Blog

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    Welcome to the UCL EyeTherapy blog

    By Prateek Buch, on 22 June 2012

    Welcome! On this blog you will find:

    Don’t forget to visit our main research website where you will find all the latest information on our work to develop novel treatments for sight loss

    Our latest posts are below – do let us know what you think!

    email: eye.info@ucl.ac.uk        Phone: 0207 608 7982

    Professor Ali honoured for his contribution to research into retinal disease

    By Andi M Skilton, on 8 September 2014

    Prof Robin Ali








    Professor Robin Ali, PhD, Professor of Human Molecular Genetics and Head of the Department of Genetics, UCL Institute of Opthalmology has been awarded the Pioneer Award for his work in proof-of-concept studies that have demonstrated the feasibility of using gene therapy and cell transplantation to treat dysfunction and degeneration of the cells of the retina as well as his work on the first clinical trial for inherited retinal degeneration.

    The award is presented by the journal of Human Gene Therapy (the official journal of the European Society of Gene and Cell Therapy and British Society for Gene and Cell Therapy, among others) who are commemorating their 25th anniversary by recognising leadership and contributions to the field of gene therapy to treat retinal degeneration leading to blindness. Professor Ali is joined by co-recipiants Jean Bennett, MD, PhD, Perelman School of Medicine, University of Pennsylvania, and William Hauswirth, PhD, University of Florida College of Medicine.

    Achromatopsia might not be as progressive as previously thought

    By Andi M Skilton, on 8 September 2014

    A recent publication from the UCL Institute of Ophthalmology, Moorfields Eye Hospital, and the Medical College of Wisconsin indicates that for the majority of people with achromatopsia, the condition may not be as progressive as previously suggested.

    Data from this study by Aboshiha et al. demonstrated that for the majority of people with achromatopsia (a rare, inherited genetic disease of the eye) vision and the structure of the retina (the light-sensitive layer at the back of the eye) doesn’t worsen over time, and in the small number of people where it does, these changes in vision are slow and unrelated to a person’s age or to the genetic cause of their condition.

    Published in the journal of Investigative Ophthalmology and Visual Science, this UK and US collaboration is the largest and longest follow up of patients with achromatopsia published to date with 38 people (20 men and 18 women, aged between 6 and 52) with genetically confirmed achromatopsia assessed for progression over an average of approximately two years.

    Until fairly recently achromatopsia was described as being stationary i.e. that it did not change over time. However, a number of recently published studies using new retinal imaging techniques have suggested a possible worsening of achromatopsia as people age. Nearly all previous studies have been small cross-sectional studies (i.e. a range of different people were monitored and data collected at a set point in time) where as this study is longitudinal (i.e. we have monitored a range of different people but collected data over a period of time), which has helped to clarify the role of progression in achromatopsia.

    Prof Michel Michaelides, Professor of Ophthalmology at the UCL Institute of Ophthalmology and Consultant Ophthalmologist at Moorfields, lead the study –

    “In conditions where there is progressive worsening as people get older we often need to treat as early as possible to see a benefit. Currently there are no treatments for achromatopsia but due to promising results reported for gene therapy studies in animals, there are plans for human clinical trials in the near future. The data from this study indicates that because progression of achromatopsia is indeed quite minimal more people may be able to benefit from treatments in the future then we previously thought.”

    Achromatopsia causes the dysfunction of the light sensitive cone cells in the eye in approximately 1 in 30,000 people and is characterised by involuntary and repetitive movement of the eyes (nystagmus), poor clarity of vision (visual acuity) and sensitivity to light (photophobia). People with achromatopsia have mutations in one of five genes important for vision: CNGA3 and CNGB3, which account for 70% of all cases, as well as GNAT2, PDE6C and PED6H.

    In 2013 the UCL Institute of Ophthalmology received a £2.1 million grant from the Medical Research Council to conduct an early phase I/II gene therapy clinical trial over the next five years in people with achromatopsia caused by defects in the CNGB3 gene. The clinical trial will assess if adding normal CNGB3 into the cells of the eye is safe and has any potential benefit for vision.

    2 Lazy 2 Run? We’re biking it for blood cancer!

    By Andi M Skilton, on 29 August 2014


    2 Lazy 2 Run Cycling Club

    2 Lazy 2 Run CC (left to right): Paul Waldron, Peter Gardner, Sander Smith, Katlyn Green, Manjit Mehat, Matteo Rizzi and Sophia-Martha kleine Holthaus

    On Sunday 31 August a group of not so elite athletes from the Gene and Cell Therapy group will be taking part in the London Bikeathon 2014 to raise funds for Leukaemia & Lymphoma Research.

    The 2 Lazy 2 Run CC will be cycling 52 miles – that’s more than a marathon, no mean feet given that many of them haven’t cycled for some time. No wonder they’re not running!

    The money raised will go towards supporting Leukaemia & Lymphoma Research who are the UK’s leading charity dedicated to improving the lives of patients with all types of blood cancer including leukaemia, lymphoma and myeloma.

    Leukaemia & Lymphoma Research first started research into blood cancers in 1960 and your support means they can continue their ground-breaking research, which benefits patients today – and in the future.

    If you would like to support 2 Lazy 2 Run CC then please visit their fundraising page below and donate as little or as much as you wish:

    You can also find out more about Leukaemia & Lymphoma Research on their website:

    The Art of Eyes

    By Andi M Skilton, on 7 August 2014

    Embryonic stem cell-derived photoreceptors

    The eye is an object of great beauty as shown by the Ophthalmologist in their July/August 2014 issue. This month’s issue features a photo essay called The Art of the Eyes and includes examples of the work from a number research labs capturing the complex and beautiful detail of the eye and its cells. The essay includes images of embryonic stem-cell-derived photoreceptors produced by our own Dr Colin Chu and Dr Anai Gonzales-Cordero, who’s work graces the cover (pictured).

    In memoriam

    By Andi M Skilton, on 5 August 2014


    Dr Yoshiki Sasai (1962 – 2014)

    It is with great sadness today that we remember and pay tribute to our collaborator Dr Yoshiki Sasai.
    Yoshiki was a world leading stem cell researcher and Deputy Director of the Riken Center for Developmental Biology in Kobe, Japan.
    Through his hard work and dedication over many years, Yoshiki made an enormous contribuution to the field of regenerative medicine, which remain as a lasting testament to an accomplished scientist. 
    We will remember Yoshiki fondly and with respect and our thoughts are with his family, friends and colleagues during this difficult time.

    International Clinical Trials Day: Our Work in Summary

    By Andi M Skilton, on 20 May 2014



    Today, 20 May 2014, is International Clinical Trials Day. This landmark day remembers the pioneering work of James Lind a Scottish naval physician who, in the 1700s, conducted the first controlled clinical study that identified that citrus fruit (containing Vitamin C) was effective in treating scurvy.

    Each year, a number of organisations mark this day with a focus on improving understanding and communication on the importance of controlled clinical trials including the National Institute for Health Research (NIHR) and its NHS partners who are launching their ‘OK to ask’ campaign encouraging patients to ask their doctors about research.

    In support of this day, here at the Gene and Cell Therapy group at UCL Institute of Ophthalmology, we want to highlight our own commitment to improving clinical outcomes for patients with severe vision loss by providing an overview of our on-going clinical trial programme.

    In partnership with the NIHR Moorfields Biomedical Research Centre our clinical trial programme has been running since 2007. We now have two pioneering phase I clinical trials in progress – one treating Leber Congenital Amaurosis Type 2 (LCA2) with gene therapy and the other treating Stargardt Macular Degeneration (SMD) Disease using retinal pigment epithelium (RPE)-derived from embryonic stem cells (ESCs).

    LCA2 and gene therapy

    LCA is an untreatable, inherited eye disorder that affects around 1 in 80,000 people. Shortly after birth patients experience a progressive loss of vision caused by a mutation in at least one of a number of possible genes. For mutations in the gene RPE65 successful studies in animals have shown that gene therapy, which involves injecting a harmless virus containing a normal RPE65 gene into the eye, can restore some aspects of vision.

    This research led to a first-of-its-kind clinical study in humans in 2008 led by Professor Robin Ali, Head of the Department of Genetics, UCL Institute of Ophthalmology. Early results published in the New England Journal of Medicine, show that the experimental treatment appears to be well tolerated and can improve sight.

    SMD and stem cell therapy

    In another first of its kind study in humans, started back in 2012, Professor James Bainbridge, Professor of Retinal studies at UCL Institute of Ophthalmology and Consultant Ophthalmologist at Moorfields Eye Hospital NHS Foundation Trust, has been assisting Advanced Cell Technology (ACT), a US based company, investigate the potential of stem cells for people affected by macular degeneration. SMD is another untreatable condition where onset begins in early childhood (between the ages of six and 12 years). In children with SMD the macula, which is responsible for our central and fine vision, begins to degenerate causing loss of vision that extends into adulthood.

    Participants attend Moorfields regularly for sight assessment and ocular imaging in our pioneering retinal imaging facility. Over the next two years we will continue to collect data to identify any safety concerns and any indication of benefit.

    The future

    These important and innovative trials are only the first step in demonstrating the extent to which gene and cell therapies for inherited eye disease can slow, halt or even reverse severe vision loss. Our early data suggests that these treatments are well tolerated and further studies will be required to show the extent to which they will benefit patients.

    We are committed to ensuring that we continue to be innovators in this field and further clinical studies into other inherited forms of vision loss are planned. Our group has previously shown that gene therapy can restore vision in a mouse model of achromatopsia and in 2013 we were delighted to announce that we had received funding from the Medical Research Council for the development of a gene therapy to treat the most common form of achromatopsia in humans (caused by a mutation in the gene CNGB3).

    Achromatopsia affects 1 in 30,000 people and causes the complete absence of colour vision from birth, a severe reduction in central visual, extreme sensitivity to light and impaired vision in daylight. We are currently seeking the necessary approvals to begin a clinical study in humans and hope to begin recruiting the first patients later this year.

    Closing comments from Professor James Bainbridge

    “We hope that in the future we will be able to extend these technologies to other diseases of the retina. The data we collect from these early clinical trials are already proving invaluable to our research both increasing our understating of how the retina functions and helping us to refine and improve our techniques, the benefits of which we hope to be able to pass onto other clinicians so that they in turn will be able to improve the outcomes for their patients with advanced vision loss.”

    To keep updated with our research please continue to check back on our blog and our website. You can also follow us on Twitter and Facebook and sign up to our annual newsletter. 

    Dr. Adam Dubis: A Researcher With a Vision for Optical Imaging

    By Andi M Skilton, on 16 May 2014

    Adam-Dubis-People-Behind-the-ScienceThis month our own Dr Adam Dubis is profiled as one of the ‘People Behind the Science’. Adam is a Research Associate here at the UCL Institute of Ophthalmology and is the Advanced Human Retinal Imaging Specialist at Moorfields Eye Hospital NHS Foundation Trust. Listen to how Adam got to where he is today and the innovative work he is doing in optical tomography and adaptive optics – which is so essential to our understanding of how potential gene and cell therapies for severe vision loss repair the damage caused by inherited eye disease.

    Prof. Robin Ali sheds light on repairing the retina with stem cells for the ISSCR

    By Andi M Skilton, on 9 May 2014

    Prof Robin AliThis month is Healthy Vision Month and the International Society for Stem Cell Research (ISSCR) are highlighting advancements related to stem cell research and retina repair.

    The ISSCR has invited our own Professor Robin Ali, Head of the Department of Genetics, UCL Institute of Ophthalmology to be an expert contributor on the subject.

    On a webcast yesterday, Thursday 15 May,  Prof Ali discussed the group’s work into photoreceptor transplantation over the last 10 years. The gene and cell therapy group at UCL Institute of Opthalmology has previously demonstrated that precursor rod cells (a type of photoreceptor responsible for night time and dim light vision) when transplanted into mice which can not see in dim light, are able to make the necessary connections to restore night vision.

    The group has now gone on to refine a technique to generate and purify sufficient numbers of embryonic stem cell (ESC)-derived rod cells, at the right stage of development, for transplant into adult mice with degenerated retinas. The process involves generating balls of cells from ESCs called embryoid bodies that organise themselves into structures called optic cups and from which early, rod cells can be harvested. The ultimate goal of this work in mice will be to find ways to develop the technique sufficiently so it can be applied to the production of clinical grade human embryonic stem cells for transplantation.

    There is a good precedent for using stem cell therapy to repair eye damage. Transplanting corneal stem cells to repair chemical burns of the cornea, has been very successful in restoring vision. But the retina – a multi-layered neural network – is a much more complicated structure, so repairing it poses greater challenges.

    A number of different strategies and various types of stem cells are under investigation for the purpose of transplantation. ESCs are best suited for making new retinal cells and data from small, early clinical trials with these cells look promising. However, longer term studies into the tolerability of such transplants are ongoing. It is hoped that in the future there are a number of severe visual impairments that might benefit from such transplants.

    You can watch the full webcast on the ISSCR public channel as well as read the accompanying blog:

    You can also learn more about the research of Prof. Ali and colleagues on our blog and website:

    Registration now open for AMD DAY 2014!

    By Andi M Skilton, on 25 April 2014


    We are delighted to announce that we are excepting applications to attend our Age-Related Macular Degeneration Day happening on Saturday July 2014 at the Queen Elizabeth II Conference Centre, Westminster, London.

    This free one-day event provides an opportunity for people with Age-Related Macular Degeneration (AMD) to interact with charities, researchers and healthcare professionals. Patients will hear first-hand the progress being made in world-leading research into gene and stem cell therapies to treat different forms of macular degeneration and be able to discuss the future of our research to ensure it focuses on the aspects of AMD that are most important to people living with AMD.

    The uniqueness of this day is that our patients have set the agenda to ensure our panel of specialists (doctors, scientists, counsellors and nurses) focus on the topics most important to you.

    To register and find out more about AMD Day and our research into AMD please visit our website:

    AMD Day is organised by the Department of Genetics, UCL Institute of Ophthalmology and is funded by the NIHR Moorfields Biomedical Research Centre, a grant from the Wellcome Trust and by the Macular Society.

    UCL Institute of Ophthalmology attends SET for Britain

    By Andi M Skilton, on 21 March 2014

    Screen Shot 2014-03-21 at 15.32.25

    SET for Britain logo

    On Monday 17 March, our own Dr Anai Gonzalez-Cordero was one of the hundreds of early-career scientists in Britain invited to Westminster to present their research to Members of both Houses of Parliament (MPs) at SET for Britain.

    Dr Gonzalez-Cordero (one of 60 Biologists and Biomedical scientists in attendance) presented her work on the development of cell therapy techniques to treat vision loss, specifically the transplant of embryonic stem cell (ESC)-derived photoreceptors into the eye to replace those that have lost their normal function.

    Of the day, Dr Gonzalez-Cordero said, “It was a great pleasure to be asked to take part along with so many other talented scientists engaged in really fascinating areas of research. At UCL Institute of Ophthalmology our research into transplanting ESC-derived photoreceptors into the adult diseased retina is still in the early stage of investigation. It was very exciting to have the chance to discuss our work with important decision makers in government and help them to understand why we think these approaches, in the future, may go on to help people with severe vision loss.”

    SET for Britain is an annual event and the result of a collaboration between the Parliamentary and Scientific Committee, Society of Biology, the Royal Academy of Engineering, the Royal Society of Chemistry and the Institute of Physics. It seeks to encourage and support those at the start of their scientific career by providing a forum where scientists can present and discuss their own “ground-breaking and frontier” research with MPs.