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Monogenetic Diseases

Summary of the impact

Research at the Centre for Cutaneous Research at Queen Mary has led to gene discovery and molecular diagnosis for a number of single gene skin disorders and associated syndromes including hearing loss, inflammatory bowel disease, cardiomyopathy and oesophageal cancer. It has identified GJB2 mutations (encoding Cx26) as major cause of genetic hearing loss (20-50% of all cases) and ABCA12 mutations with the (often fatal) recessive skin condition Harlequin Ichthyosis. Impacts include: 1) increased medical and scientific awareness/knowledge of the inherited basis of these conditions, 2) changes in clinical practice and molecular diagnosis, 3) improved information for patients, parents and the public.

Submitting Institution

Queen Mary, University of London

Unit of Assessment

Clinical Medicine

Summary Impact Type

Health

Research Subject Area(s)

Biological Sciences: Genetics
Medical and Health Sciences: Neurosciences

Neurosolutions: a commercial partnership between academia and industry to develop novel drugs for neurological disorders

Summary of the impact

Based on electrophysiological research conducted at the University of Warwick from 2000, Neurosolutions was founded as a spin-out company in 2001. As well as developing its own novel compounds, Neurosolutions provides specialised translational biomedical research services to the biotechnology and pharmaceutical industries to facilitate preclinical drug development of novel strategies to treat neurological disorders. In 2005, Neurosolutions floated on the Australian Stock Exchange (ASX) as Neurodiscovery to support the clinical development in-house of two compounds (both are patent-protected): NSL-043 for neuropathic pain (which completed 2 phase I studies in 2008-2009) and NSL-101 for dental pain (which completed phase II trials in 2009-2010). In 2010, Neurosolutions expanded its operations to Montreal, Canada. Neurosolutions is a profit- making contract research organisation with 15 full-time staff based in the UK and in Montreal, has annual revenues averaging £1.4M per annum and has earned around £7.5M in contracts from the biotechnology and pharmaceutical industries since its launch.

Submitting Institution

University of Warwick

Unit of Assessment

Clinical Medicine

Summary Impact Type

Technological

Research Subject Area(s)

Medical and Health Sciences: Neurosciences

Countering the Spread of Chemical and Biological Weapons

Summary of the impact

This case study documents the research and impact of Sussex members of the Harvard Sussex Program (HSP) on chemical and biological weapons (CBW). Since 2008, HSP has provided a wide range of benefits to CBW expert and policy communities, through information gathering and dissemination, advisory work, outreach events, and briefings and reviews, as well as single-issue advocacy and policy innovation. At the same time, HSP has contributed to changes in national and international CBW policies through its research on such issues as yellow rain, incapacitating agents, and processes of Science and Technology review.

Submitting Institution

University of Sussex

Unit of Assessment

Politics and International Studies

Summary Impact Type

Societal

Research Subject Area(s)

Medical and Health Sciences: Public Health and Health Services
Studies In Human Society: Policy and Administration, Sociology

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