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Haemophilia, an inherited bleeding disease, is treated by frequent and extremely expensive infusions of recombinant versions of the missing factors. Advances in gene therapy have now been achieved at UCL, with successful treatment of Haemophilia B in 10 severely affected patients. The novel factor IX expression cassette has been patented and licensed to an industrial partner (UniQure). Savings to the NHS in excess of £1.5m have already been made and increase every month. Pre-clinical advances have also been made in Haemophilia A, and the factor VIII expression cassette has been patented and licensed to an industrial partner (BioMarin).
Professor William Stimson has led research into rapid diagnostic tests for the food industry from 1996 to the present day. These tests reduce the time for microbiological testing of food pathogens from 2-5 days to within a working day. The new technology is fully automated, uses less material and involves fewer manipulations than previously available kits, leading to a reduction in cost and time. A spin out company, Solus Scientific Solutions Ltd., has attracted €1.36M EUROSTARS funding for further Research & Development, and has created 24 jobs. Sales of testing kits produced revenue of £3.4 million by year end 2012, and have increased since this date.
Impact: Economic. The EaStCHEM spin-out company Deliverics has commercialised biodegradable transfection reagents for both the "research tool" and the "RNAi therapeutics" markets (globally valued at £400M and £4 billion respectively). Beneficiaries are the pharmaceutical and biotechnology sectors, and clinicians. The turnover since 2010/11 is £330k and the company currently has five employees.
Significance: Deliveric's agents out-perfom existing materials in term of efficacy and reduced levels of toxicity. They are not hampered by the immunogenicity, manufacturing issues, and carcinogenicity previously seen for viral vectors used as delivery agents. This presents a wide ranging ability to deliver nucleic acids into cells and tissues for biological applications.
Research; date; attribution: EaStCHEM research (2008) led by Bradley reported a family of non-viral DNA delivery agents that offered a highly-efficient and non-toxic method of delivering siRNA/DNA into mammalian cells and tissues. Development and patenting of this technology led to the spin-out of Deliverics Ltd. in 2010.
Reach: International customer base (20 research groups and 10 companies) including specially appointed distributors in Spain (Albyn Medical), South Korea (CoreSciences), and US (Galen).
Until recently, prenatal diagnosis of genetic conditions required analysis of fetal genetic material obtained following invasive testing, with a risk of miscarriage. Non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA in maternal plasma has transformed prenatal diagnosis for many women. Testing the maternal blood sample avoids the miscarriage risk. At UCL, we have led the implementation into clinical practice of NIPD for serious sex-linked and autosomal dominant disorders. After a successful application for UK Gene Testing Network (UKGTN) Gene Dossier approval for fetal sex determination in 2011, this is now the standard of care across the UK.
Research at Swansea University on light therapy has contributed to an extensive market in laser and intense pulsed light (IPL) products for the therapeutic and cosmetic treatment of skin conditions. Impacts include: globally registered intellectual property; local manufacturing of a wide range of laser and IPL products; their distribution to over 40 countries; and resulting benefits to health in treating acne, rejuvenating skin and removing hair. The research undertaken by Swansea University and its companies pioneered this market in partnership with Procter & Gamble and Unilever; and established a joint venture with Sony UK to manufacture these laser and IPL products in South Wales. The Welsh government views this collaboration as an exemplar for the resurgence of UK specialist manufacturing.
Bacteria of the Clostridium genus are of pathogenic, medical and industrial importance. Development by University of Nottingham School of Life Science researchers of three patented methods for genetic manipulation of clostridial species has led to licensing agreements for commercial exploitation of the methodology to enhance strains for chemical commodity and biofuel production and for targeted cancer therapy. These methods are providing significant world-wide impact by facilitating commercial R&D investment and technology developments in fields ranging from healthcare, through chemicals manufacture, to the environment.
Jayne's team have co-ordinated a sequence of randomised clinical trials, that have defined the standard of care for ANCA vasculitis treatment and shaped national and international guideline statements, NHS national commissioning guidance and an on-going NICE assessment. Together with Ken Smith his group have pioneered the use of the B cell-depleting agent rituximab, in vasculitis, contributing key evidence that led to its licence approval (USA and EU) for this indication. Ken Smith's group supported by Jayne's clinical team have discovered novel therapeutic biomarkers, patented and being assessed in Phase II clinical studies, that promise to deliver "personalised medicine" in this and related conditions. These activities have harmonised the management of vasculitis, are improving patient outcomes, and have provided a resource for on-going scientific and clinical studies.
Research at the UCL Institute of Child Health (ICH) has led to the successful treatment of children with primary immunodeficiency diseases for whom there was little chance of "cure" by the only other possible means: haematopoietic stem cell transplantation (HSCT). Beginning in 2002, we have treated 32 patients with four different primary immunodeficiency disorders. In total we have treated 12 patients with severe combined immunodeficiency (SCID-X1), 13 patients with adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID), 5 patients with chronic granulomatous disease (CGD) and 2 patients with Wiskott-Aldrich syndrome (WAS). Most of the patients have been successfully treated and are at home, off all therapy. We are now starting to develop this technology to treat a wider range of related disorders.
Mouse disease models provide an invaluable tool to the medical sciences, underpinning the understanding of disease mechanisms and the development of therapeutic interventions. A new cultivation protocol for deriving mouse embryonic stem (ES) cells was developed by Dr Nichols between 2006 and 2009. This has facilitated the production of ES cells from disease model mice that can be manipulated in vitro and used to establish modified transgenic mice with the required genetic profile, in a single generation. This method reduces the number of mice needed, as well as associated costs and staff time, by 90%. Dr Nichols has trained industry delegates from international transgenics companies and transgenic facility managers in the new technology. As a consequence, a minimum of 26820 fewer mice have been used in experiments, and a minimum of £536k have been saved since 2009.
Investigators at UCL have developed new diagnostic tests, new treatments and new methods for monitoring treatment of inborn errors of metabolism. Certain of these tests are now used to screen all newborns in the UK, all infants with liver disease and all infants with drug-resistant epilepsy. This is improving outcome for >120 UK children per year. For untreatable disorders, prenatal tests prevent the birth of a second affected child in the family.