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Inherited retinal disease: genetic testing and a new era of therapy

Summary of the impact

Research at the UCL Institute of Ophthalmology over the last 20 years has resulted in the identification of a large number of novel genes that cause inherited retinal disease. These genes have been incorporated into diagnostic tests, which have allowed molecular diagnosis, improved genetic counselling including pre-natal/pre-implantation diagnosis, better information about prognosis and have informed decisions about which diseases should be prioritised for clinical trials of novel treatments. The identification of these genes has greatly improved understanding of disease mechanisms, an essential prerequisite for developing new treatment approaches such as gene therapy.

Submitting Institution

University College London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Technological

Research Subject Area(s)

Medical and Health Sciences: Neurosciences, Ophthalmology and Optometry

Improving vision of patients with angle-closure glaucoma

Summary of the impact

Glaucoma is one of the major causes of blindness world-wide and is characterised by visual loss arising from death of retinal ganglion cells. One important form, angle-closure glaucoma, is particularly prevalent in Asia. Based on experience of large-scale epidemiological surveys, UCL researchers devised a classification for angle-closure glaucoma that has become the international standard for this condition. The research been used as the basis for the development of the current framework for the management of angle-closure glaucoma, informing the development of both new and revised guidelines used around the world.

Submitting Institution

University College London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Ophthalmology and Optometry

The Moorfields Regression Analysis improves the management of glaucoma

Summary of the impact

Prevention of blindness caused by glaucoma requires an early diagnosis, for which we have developed new clinical techniques. The Moorfields Regression Analysis (MRA) is an algorithm that we developed for the Heidelberg Retina Tomograph, an imaging device for glaucoma diagnostics. The MRA made it possible, for the first time, to accurately quantify structural damage caused by glaucoma. The MRA allows earlier diagnosis of glaucoma, and has been adopted worldwide.

Submitting Institution

University College London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Neurosciences, Ophthalmology and Optometry

Applying epidemiology to understand visual impairment in childhood: burden, aetiology, diagnosis, management and outcomes.

Summary of the impact

Our research into the epidemiology of childhood visual impairment has transformed understanding of the epidemiology, outcomes and impact of childhood visual impairment in the UK. As a result, changes have been made to the Newborn and Infant Physical Examination Programme and the National Vision Screening Programme. Our work has underpinned the development of new quality standards for paediatric ophthalmology services issued by the Royal College of Ophthalmologists. Our studies on congenital cataract have improved the management of this condition nationally. We have involved visually impaired service users and patient groups directly in our research to improve quality of life measures and patient engagement.

Submitting Institution

University College London

Unit of Assessment

Public Health, Health Services and Primary Care

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Ophthalmology and Optometry, Public Health and Health Services

Diagnosis and treatment of Nystagmus: improving medical effectiveness and patient quality of care

Summary of the impact

Infantile nystagmus (IN), previously known as congenital nystagmus, is a condition that impairs vision by causing continual and involuntary oscillatory movements of the eyes. IN begins in infancy and is a lifelong disorder, affecting over 88,000 people in the UK. Leicester is the leading UK centre for research into the underlying mechanisms and treatment of IN: discovering the genetic mutations behind some of the common forms of nystagmus; pioneering early diagnosis of IN; and conducting randomised clinical trials into drug treatments and other therapies. The centre provides advanced scientific and medical knowledge, and support and advice to sufferers of this physically and psychologically debilitating condition. The work has resulted in new methods of diagnosis which are more comfortable and convenient for patients and enable cost-savings for healthcare providers; and has led to the testing and subsequent prescription of pharmacological treatments which offer patients improvements in quality of life.

Submitting Institution

University of Leicester

Unit of Assessment

Psychology, Psychiatry and Neuroscience

Summary Impact Type

Health

Research Subject Area(s)

Medical and Health Sciences: Clinical Sciences, Neurosciences, Ophthalmology and Optometry

Spatiotemporal Undersampling for Highly Accelerated MRI

Summary of the impact

Imaging speed is of critical importance in most Magnetic Resonance (MR) imaging applications. King's College London (KCL) researchers have developed spatiotemporal undersamplings, or "k-t" methods, for three-dimensional (3D) imaging and corresponding image reconstruction methods that have increased the speed of imaging significantly, so that particular scans are now 5-7 fold faster. This has directly impacted the experience of the patient whose overall examination time has been reduced from more than 1 hour to less than 30 minutes depending on the application. The technology has been patented and has been implemented by Philips Healthcare, one of the three major manufacturers of MR equipment. A clinical solution platform for 3D MR cardiac perfusion and quantitative flow imaging, based on the technology developed at KCL, has also been launched by the Swiss company, GyroTools LLC.

Submitting Institution

King's College London

Unit of Assessment

General Engineering

Summary Impact Type

Technological

Research Subject Area(s)

Physical Sciences: Other Physical Sciences
Medical and Health Sciences: Cardiorespiratory Medicine and Haematology, Neurosciences

Transformational Biomedical Diagnostics with Optical Coherence Tomography

Summary of the impact

The Applied Optics Group (AOG) at Kent has been at the forefront of fundamental research into optical coherence tomography (OCT) for eye-imaging since 1996. The group has invented and developed diagnostic OCT with scanning laser ophthalmoscopy (OCT/SLO). The combination of these two techniques at Kent was crucial to the development of a new generation of instrumentation, which was commercialised in 2006 and now routinely used in eye clinics worldwide. It is essential technology in the rapid and accurate diagnosis and treatment of eye diseases that would otherwise not be possible.

The new instrumentation provides rapid images at higher resolution that are much less sensitive to patient movement. The direct impact is on the doctors who have access to more information on the patients condition in much less time, as well as patients whose rapid diagnosis increases their treatment success rate. We estimate that around five million patients worldwide have benefitted from this technology. There is indirect impact via the profits to the University and to the company that holds the licence to manufacture the instruments.

Submitting Institution

University of Kent

Unit of Assessment

Physics

Summary Impact Type

Technological

Research Subject Area(s)

Physical Sciences: Other Physical Sciences
Medical and Health Sciences: Ophthalmology and Optometry

Physiotherapy for the Eyes

Summary of the impact

Research carried out at the University of Aberdeen has directly resulted in a new therapy for stroke patients who have suffered partial sight loss. The sight rehabilitation device developed through the research has so far been used to treat around 300 UK stroke patients, who reported significant improvements in their quality of life. The therapy has been publicized by the UK Stroke Association and at national and international events. The research also led to commercial impacts through the creation of a spin-out company, Sight Science Ltd, which was later acquired by its only worldwide competitor, NovaVision Inc, protecting jobs and forging a long-term commercial partnership.

The specific impacts on commerce have been: substantial industrial investment in research and development, job creation and protection within UK industry, commercialisation of a new product, and long term partnership contract with industry with provisions for commercialisation of future products.

Submitting Institution

University of Aberdeen

Unit of Assessment

Psychology, Psychiatry and Neuroscience

Summary Impact Type

Technological

Research Subject Area(s)

Medical and Health Sciences: Clinical Sciences, Neurosciences, Ophthalmology and Optometry

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