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UCL EyeTherapy Blog


A blog by the Gene and Cell Therapy Group at the UCL Institute of Ophthalmology Department of Genetics


Archive for the 'News' Category

‘Defining Future Eye Research’ – a Chance for You to Help Tackle Slight Loss

PrateekBuch26 March 2013


Scientific research has enhanced our understanding of the causes of sight loss, enabling the development of novel treatments. For this research to be effective, it is crucial that investigators listen to with people affected by sight loss, to help set priorities in the future direction of research. Such engagement was evident at our first Retina Patient Day last year, and we’re pleased to note a further opportunity to help shape the future of eye research – the James Lind Alliance is bringing together patients, carers and researchers to identify and prioritise the top 10 ‘unanswered questions’ relating to sight loss.

The Alliance has set up the Sight Loss and Vision Priority Setting Partnership together with a wide range of organisations involved in tackling sight loss. This Partnership is seeking to understand your priorities for future research into eye health. In consultation with people affected by sight loss, their partners, relatives and carers and eye health professionals, the Partnership has built lists of ‘unanswered questions’ relating to many types of sight loss. You now have a chance to rank these questions in order of priority – to help shape the future direction of sight loss research.

This vital exercise will inform groups like the Gene and Cell Therapy Group at the UCL Institute of Ophthalmology as we investigate sight loss in the future. To participate in this consultation, please visit http://www.sightlosspsp.org.uk/. There, you will find a list of different types of sight loss in the right-hand side menu. Clicking on the type of sight loss you are interested in will download a Word document with two forms, A and B. Form A is a list of ‘uncertainties,’ or unanswered questions, from which you are asked to choose ten as priorities for future research. Form B asks you to rank the questions you’ve chosen from 1 to 10 in order of priority, and has instructions on how to complete and return both Forms including deadlines for submission.

Some important deadlines include:

  • Age-related macular degeneration (AMD) – April 12th 2013
  • Inherited retinal disease (including retinitis pigmentosa (RP), achromatopsia, Leber congenital amaurosis (LCA) and Stargardt disease) – April 15th 2013
  • Childhood-onset eye disorders (including amblyopia, coloboma and aniridia) – April 17th 2013
  • Ocular inflammatory diseases (including uveitis, birdshot retinopathy and Behçet’s disease) – March 28th 2013

This consultation is an excellent chance for your voice to be heard by the researchers investigating causes of and treatments for sight loss – and the funding bodies that support their research. Here’s Professor James Bainbridge, leading consultant ophthalmologist at Moorfields Eye Hospital and Professor of Retinal Studies, on the importance of engaging with people affected by sight loss when setting research priorities:

“Knowing which questions people with sight loss want answered helps us direct our research efforts into areas that will improve peoples’ lives. It is vital to engage people affected by sight loss in the design of future research to ensure that our efforts are closely directed to their needs.”

Please return the forms to sightlossandvisionpsp@fightforsight.org.uk, and direct any enquiries regarding the consultation to Fight for Sight on 0207 264 3900.

EyeTherapy at the Edinburgh International Science Festival – are Stem Cells a Cure for Blindness?

PrateekBuch26 March 2013


We’re really pleased that Dr. Rachael Pearson, who leads our cell therapy research team, will be presenting a talk on her research into cell therapy for sight loss at the prestigious Edinburgh International Science Festival. Dr. Pearson will discuss our pioneering work into the use of cell transplantation to repair the damage caused by retinal disease – research that shows how immature photoreceptor cells can restore vision when injected into models of inherited sight loss.

Transplanted photoreceptor cells can integrate into the retina and can restore vision in models of sight loss

Transplanted photoreceptor cells can integrate into the retina and can restore vision in models of sight loss

Here’s Dr. Pearson on what she plans to present as part of one of the largest science festivals in Europe:

“I am very much looking forward to presenting our most recent findings on developing stem cell-based therapies for the treatment of retinal degeneration and discussing these with the audience. It is a great honour to have been asked by the Royal Society to show case the research we are conducting at UCL Institute of Ophthalmology”.

The talk takes place at the National Museum of Scotland at 5.30pm on March 27th, and is presented in association with the Royal Society.

A Gene Therapy Clinical Trial for Achromatopsia

PrateekBuch25 March 2013

We are pleased to have been awarded a major research grant from the Medical Research Council (MRC), to develop gene therapy for achromatopsia. Affecting around  1/30000 people, achromatopsia is an inherited condition that causes the complete absence of colour vision from birth, a severe reduction in central visual acuity, extreme sensitivity to light and significant impairment of daylight vision from an early age.

Roughly half of all achromatopsia cases in the UK are associated with damage to the CNGB3 gene – the 4 other genes associated with the disease are much rarer, making the CNGB3 form of the condition amenable to treatment.

We will use the funding (£2.1 million) over the next five years to produce and test an engineered viral vector suitable for use in the clinic, and conduct a Phase I/II clinical trial of gene therapy in patients with achromatopsia caused by defects in the CNGB3 gene.

In laboratory models, CNGB3 gene replacement using AAV is one of the most effective therapies being developed for sight loss caused by defects in the light-sensitive photoreceptor cells of the retina. In a study published in the journal Human Molecular Genetics we showed that gene delivery using an engineered adeno-associated virus (AAV) can restore vision in a model of achromatopsia lacking CNGB3. Our study showed long-term restoration of sight as measured by improvements in the ability of treated mice to track a visual stimulus. Dogs with a similar defect have been treated using AAV gene therapy by a group in the United States.

As well as the MRC funding for the trial, we have secured ethical approval for the study from the National Research Ethics Committee (NRES). We will soon begin production and safety testing of the clinical grade virus to be used in the clinic, after which we can seek full regulatory approval from the Medicines and Healthcare products Regulatory Agency (MHRA) to begin the trial.

We plan to use a different sub-type of AAV than in our previous gene therapy trial aimed at the RPE65 form of Leber congenital amaurosis (LCA). This sub-type has been shown to be more effective at delivering genes to the light-sensitive photoreceptors of the retina than the sub-type used in our previous gene therapy trial, which targeted a defect in the retinal pigment epithelium (RPE).

Commenting on the prospect of a new trial for achromatopsia, Professor Robin Ali said: “This funding from the MRC is crucial for our programme. It will help us demonstrate that gene therapy can be used to treat photoreceptor cell defects, having shown it can be safe and effective in treating RPE defects.”

We will provide further updates on progress towards a clinical trial for achromatopsia both here and on our website.