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
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
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
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
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
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
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.