Exploring a potential treatment for Usher Syndrome
Usher syndrome is the most common cause of deaf-blindness and affects an estimated 400,000 people worldwide. It is usually diagnosed in childhood, often in very young children. This project is a new and pioneering approach to the challenge of finding effective treatments.
January 2018 - December 2020
Charity information: Retina UK
Children born with Usher Syndrome face significant challenges as both their vision and hearing are impaired. The shock of diagnosis, followed by progressive sight loss, can be very difficult for the individual affected and their family. Finding a way to prevent loss of vision is vital, and we believe that work towards the development of viable treatments should be a priority. Sadly the level of funding available in the UK for research does not reflect this urgency.
This project, led by talented researcher Dr Mariya Moosajee at the UCL Institute of Ophthalmology and Moorfields Eye Hospital, aims to try a new approach to the exploration of possible treatments. This innovative investigation will test whether a non-viral alternative to traditional gene therapy is viable, not just for the treatment of Usher Syndrome, but for a wide range of inherited sight loss conditions. The aim is to create progress towards effective treatments for those affected.
To develop artificial 'optic cups' affected by Usher Syndrome.
Activities» The skilled research team will draw on previous experience of creating artificial eye tissue in the lab to develop a suitable model for testing.
What success will look like
The team will test whether the artificial tissue is exhibiting the changes expected in Usher Syndrome. They anticipate enhancing their own understanding of the condition.
To develop a safe and effective non-viral gene delivery system for larger genes.
Activities» The team will test whether a non-viral delivery system can hold larger genes like those causing Usher Syndrome, and whether the approach is safe.
What success will look like
The team will assess whether the gene has been successfully inserted, whether it is influencing the artificial Usher Syndrome models and whether any adverse side effects are noted.
Looking to the future, this project may provide an effective, flexible and safe alternative to traditional gene therapy, not just for Usher Syndrome but for a range of inherited sight loss conditions including retinitis pigmentosa (RP). Should it prove successful, it is possible that the approach could be developed to the point of clinical trials within as little as five years. Ultimately, this work has the potential to transform the lives of people facing the prospect of progressive sight loss.
As with any research, there is the possibility that the outcomes may not be as hoped. This risk is mitigated by the fact that the research is being conducted at the leading centre for eye research in the world, by a talented and respected researcher and on the basis of previous scientific discovery. Any outcome will enhance our understanding of Usher Syndrome and the role of non-viral gene therapy in the treatment of a range of conditions.
We will share regular reports in layman's terms from the research team, who will also be generating scientific reports and papers. Updates will be shared in our Look Forward magazine, our website, via social media, e-newsletters and press releases.
Budget - Project Cost: £20,000Loading graph....
Amount Heading Description £12,500 Researcher salary Proportion of 1st year salary costs for post-doctoral fellow £6,925 Consumables Proportion of 1st year consumables costs, including DNA sequencing and microscopy £200 Travel Proportion of 1st year travel costs to scientific conferences £375 Licensing Proportion of 1st year licensing and ethics costs
This project will take place at the UCL Institute of Ophthalmology and Moorfields Eye Hospital. Despite the lack of funding allocated to eye research in the UK compared to the USA, this institution is now the leading centre for eye research in the world and has been involved in many of the key scientific breakthroughs in recent years. Its reputation is such that it can attract the brightest and best ophthalmic researchers from around the world.
This project has the potential to benefit not only the 400,000 people worldwide living with Usher Syndrome, but the estimated 1.5 million who are living with a related inherited sight loss condition such as retinitis pigmentosa (RP), cone-rod dystrophy, Stargardt disease and more. This community faces the progressive and unpredictable loss of their sight, the sense that the majority of people value the most, and many want to see accelerated progress in the development of potential treatments.
RP Fighting Blindness specialises in funding research into conditions such as Usher syndrome. Currently, just 0.93% of UK research funding is allocated to eye research, and just 0.56% to ear research. Surprisingly, the six largest charities within the sight loss sector do not fund any medical research, so it falls to smaller charities like RP Fighting Blindness to stimulate, fund and evaluate complex medical research projects, drawing on the skills of our expert Medical Advisory Board.
Read more about the Charity running this project.
Dr Mariya Moosajee
Dr Moosajee is the principal investigator on this project. She has designed the study and will monitor and evaluate its results.
Tina Houlihan is Chief Executive at RP Fighting Blindness. She will review the regular reports from the research team to monitor progress.
Deborah Laing is Senior Fundraising Manager at RP Fighting Blindness, and will ensure that updates are disseminated to donors and key stakeholders.
The Big Give Christmas Challenge is your opportunity to support an exciting new project exploring a possible treatment for sight loss caused by Usher syndrome. Be part of something amazing!